[ { "LocusId": "HMNR7_VWA1", "ReferenceRegion": "chr1:870158-870178", "LocusStructure": "(GGCGCGGAGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GGCGCGGAGC", "Disease": "HMNR7", "NormalMax": 2, "PathologicMin": 3, "Gene": "VWA1" }, { "LocusId": "SCA37_DAB1", "ReferenceRegion": ["chr1:57245935-57245970", "chr1:57245970-57245973"], "LocusStructure": "(AAAAT)*(GAAAT)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA37_DAB1_AAAAT", "SCA37_DAB1"], "PathologicRegion": "chr1:57245970-57245973", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GAAAT", "Disease": "SCA37", "NormalMax": 30, "PathologicMin": 31, "Gene": "DAB1" }, { "LocusId": "OPDM5_ABCD3", "ReferenceRegion": "chr1:94266544-94266567", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "OPDM5", "NormalMax": 44, "PathologicMin": 118, "Gene": "ABCD3" }, { "LocusId": "NIID_NOTCH2NLC", "ReferenceRegion": "chr1:148519695-148519738", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "NIID", "NormalMax": 37, "PathologicMin": 66, "Gene": "NOTCH2NLC" }, { "LocusId": "NME_NAXE", "ReferenceRegion": "chr1:155728131-155728159", "LocusStructure": "(GGGCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GGGCC", "Disease": "NME", "NormalMax": 7, "PathologicMin": 200, "Gene": "NAXE" }, { "LocusId": "FAME2_STARD7", "ReferenceRegion": ["chr2:96703674-96703677", "chr2:96703677-96703732"], "LocusStructure": "(AAATG)*(AAAAT)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME2_STARD7", "FAME2_STARD7_AAAAT"], "PathologicRegion": "chr2:96703674-96703677", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "AAATG", "Disease": "FAME2", "NormalMax": 273, "PathologicMin": 274, "Gene": "STARD7" }, { "LocusId": "FRA2A_AFF3", "ReferenceRegion": "chr2:100563685-100563738", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "FRA2A", "NormalMax": 20, "PathologicMin": 300, "Gene": "AFF3" }, { "LocusId": "SD5_HOXD13", "ReferenceRegion": "chr2:176581179-176581224", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "SD5", "NormalMax": 15, "PathologicMin": 22, "Gene": "HOXD13" }, { "LocusId": "GDPAG_GLS", "ReferenceRegion": "chr2:191369982-191370024", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCA", "Disease": "GDPAG", "NormalMax": 38, "PathologicMin": 680, "Gene": "GLS" }, { "LocusId": "SCA7_ATXN7", "ReferenceRegion": ["chr3:63956302-63956333", "chr3:63956333-63956345"], "LocusStructure": "(CAG)*(CCG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA7_ATXN7", "SCA7_ATXN7_CCG"], "PathologicRegion": "chr3:63956302-63956333", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "SCA7", "NormalMax": 27, "PathologicMin": 37, "Gene": "ATXN7" }, { "LocusId": "DM2_CNBP", "ReferenceRegion": ["chr3:131917482-131917557", "chr3:131917557-131917597", "chr3:131917597-131917635"], "LocusStructure": "(CAGG)*(CAGA)*(CA)*", "VariantType": ["Repeat", "Repeat", "Repeat"], "VariantId": ["DM2_CNBP", "DM2_CNBP_CAGA", "DM2_CNBP_CA"], "PathologicRegion": "chr3:131917482-131917557", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAGG", "Disease": "DM2", "NormalMax": 26, "PathologicMin": 75, "Gene": "CNBP" }, { "LocusId": "BPES_FOXL2", "ReferenceRegion": "chr3:141687011-141687054", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "NGC", "Disease": "BPES", "NormalMax": 14, "PathologicMin": 15, "Gene": "FOXL2" }, { "LocusId": "FAME4_YEATS2", "ReferenceRegion": ["chr3:186521667-186521702", "chr3:186521702-186521706"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME4_YEATS2_TTTTA", "FAME4_YEATS2"], "PathologicRegion": "chr3:186521702-186521706", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME4", "NormalMax": 999, "PathologicMin": 1000, "Gene": "YEATS2" }, { "LocusId": "HD_HTT", "ReferenceRegion": ["chr4:3073603-3073681", "chr4:3073687-3073723"], "LocusStructure": "(CAG)*CAACAG(CCG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["HD_HTT", "HD_HTT_CCG"], "PathologicRegion": "chr4:3073603-3073681", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "HD", "NormalMax": 26, "PathologicMin": 36, "Gene": "HTT" }, { "LocusId": "CANVAS_RFC1", "ReferenceRegion": ["chr4:39318077-39318132", "chr4:39318132-39318136"], "LocusStructure": "(AAAAG)*(AAGGG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["CANVAS_RFC1_AAAAG", "CANVAS_RFC1"], "PathologicRegion": "chr4:39318132-39318136", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "AAGGG", "Disease": "CANVAS", "NormalMax": 11, "PathologicMin": 400, "Gene": "RFC1" }, { "LocusId": "CCHS_PHOX2B", "ReferenceRegion": "chr4:41719745-41719805", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "CCHS", "NormalMax": 20, "PathologicMin": 26, "Gene": "PHOX2B" }, { "LocusId": "FAME7_RAPGEF2", "ReferenceRegion": ["chr4:162693303-162693388", "chr4:162693388-162693405"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME7_RAPGEF2_TTTTA", "FAME7_RAPGEF2"], "PathologicRegion": "chr4:162693388-162693405", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME7", "NormalMax": 59, "PathologicMin": 60, "Gene": "RAPGEF2" }, { "LocusId": "FAME3_MARCHF6", "ReferenceRegion": ["chr5:10295525-10295585", "chr5:10295585-10295593"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME3_MARCHF6_TTTTA", "FAME3_MARCHF6"], "PathologicRegion": "chr5:10295585-10295593", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME3", "NormalMax": 790, "PathologicMin": 791, "Gene": "MARCHF6" }, { "LocusId": "SCA12_PPP2R2B", "ReferenceRegion": "chr5:147414733-147414780", "LocusStructure": "(GCT)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCT", "Disease": "SCA12", "NormalMax": 32, "PathologicMin": 51, "Gene": "PPP2R2B" }, { "LocusId": "SCA1_ATXN1", "ReferenceRegion": "chr6:16200188-16200282", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA1", "NormalMax": 35, "PathologicMin": 39, "Gene": "ATXN1" }, { "LocusId": "CCD_RUNX2", "ReferenceRegion": "chr6:45257567-45257618", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "CCD", "NormalMax": 17, "PathologicMin": 20, "Gene": "RUNX2" }, { "LocusId": "SCA17_TBP", "ReferenceRegion": "chr6:171935458-171935569", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCA", "Disease": "SCA17", "NormalMax": 40, "PathologicMin": 49, "Gene": "TBP" }, { "LocusId": "HFG_HOXA13-III", "ReferenceRegion": "chr7:27335684-27335720", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-III", "NormalMax": 18, "PathologicMin": 22, "Gene": "HOXA13" }, { "LocusId": "HFG_HOXA13-II", "ReferenceRegion": "chr7:27335813-27335849", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-II", "NormalMax": 12, "PathologicMin": 18, "Gene": "HOXA13" }, { "LocusId": "HFG_HOXA13-I", "ReferenceRegion": "chr7:27335912-27335954", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-I", "NormalMax": 14, "PathologicMin": 22, "Gene": "HOXA13" }, { "LocusId": "FRA7A_ZNF713", "ReferenceRegion": "chr7:56047900-56047939", "LocusStructure": "(GCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCG", "Disease": "FRA7A", "NormalMax": 22, "PathologicMin": 450, "Gene": "ZNF713" }, { "LocusId": "OPDM1_LRP12", "ReferenceRegion": "chr8:105716409-105716441", "LocusStructure": "(CGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CGC", "Disease": "OPDM1", "NormalMax": 45, "PathologicMin": 85, "Gene": "LRP12" }, { "LocusId": "FAME1_SAMD12", "ReferenceRegion": ["chr8:119495247-119495347", "chr8:119495347-119495353"], "LocusStructure": "(TAAAA)*(TGAAA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME1_SAMD12_TAAAA", "FAME1_SAMD12"], "PathologicRegion": "chr8:119495347-119495353", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGAAA", "Disease": "FAME1", "NormalMax": 104, "PathologicMin": 105, "Gene": "SAMD12" }, { "LocusId": "FTDALS1_C9orf72", "ReferenceRegion": "chr9:27584063-27584155", "LocusStructure": "(GGCCCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGCCCC", "Disease": "FTDALS1", "NormalMax": 23, "PathologicMin": 251, "Gene": "C9orf72" }, { "LocusId": "FRDA_FXN", "ReferenceRegion": ["chr9:81210818-81210834", "chr9:81210834-81210861"], "LocusStructure": "(A)*(GAA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FRDA_FXN_A", "FRDA_FXN"], "PathologicRegion": "chr9:81210834-81210861", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GAA", "Disease": "FRDA", "NormalMax": 33, "PathologicMin": 56, "Gene": "FXN" }, { "LocusId": "HSAN-VIII_PRDM12", "ReferenceRegion": "chr9:142886568-142886595", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCC", "Disease": "HSAN VIII", "NormalMax": 14, "PathologicMin": 18, "Gene": "PRDM12" }, { "LocusId": "OPML1_NUTM2B-AS1", "ReferenceRegion": "chr10:80695718-80695748", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "OPML1", "NormalMax": 16, "PathologicMin": 161, "Gene": "NUTM2B-AS1" }, { "LocusId": "JBS_CBL", "ReferenceRegion": "chr11:119226662-119226696", "LocusStructure": "(CGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CGG", "Disease": "JBS", "NormalMax": 79, "PathologicMin": 101, "Gene": "CBL" }, { "LocusId": "DRPLA_ATN1", "ReferenceRegion": "chr12:6947903-6947941", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "DRPLA", "NormalMax": 35, "PathologicMin": 48, "Gene": "ATN1" }, { "LocusId": "FRA12A_DIP2B", "ReferenceRegion": "chr12:50468095-50468118", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "FRA12A", "NormalMax": 23, "PathologicMin": 273, "Gene": "DIP2B" }, { "LocusId": "SCA2_ATXN2", "ReferenceRegion": "chr12:111575873-111575940", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "CTG", "Disease": "SCA2", "NormalMax": 30, "PathologicMin": 35, "Gene": "ATXN2" }, { "LocusId": "OPDM4_RILPL1", "ReferenceRegion": "chr12:123532573-123532603", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "OPDM4", "NormalMax": 16, "PathologicMin": 120, "Gene": "RILPL1" }, { "LocusId": "SCA8_ATXN8OS", "ReferenceRegion": ["chr13:69361213-69361243", "chr13:69361243-69361270"], "LocusStructure": "(CTA)*(CTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"], "PathologicRegion": "chr13:69361243-69361270", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA8", "NormalMax": 50, "PathologicMin": 71, "Gene": "ATXN8OS" }, { "LocusId": "HPE5_ZIC2", "ReferenceRegion": "chr13:99196358-99196404", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "HPE5", "NormalMax": 15, "PathologicMin": 25, "Gene": "ZIC2" }, { "LocusId": "SCA27B_FGF14", "ReferenceRegion": "chr13:101377549-101377792", "LocusStructure": "(GAA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GAA", "Disease": "SCA27B", "NormalMax": 179, "PathologicMin": 320, "Gene": "FGF14" }, { "LocusId": "OPMD_PABPN1", "ReferenceRegion": "chr14:17522488-17522519", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "GCN", "Disease": "OPMD", "NormalMax": 10, "PathologicMin": 12, "Gene": "PABPN1" }, { "LocusId": "SCA3_ATXN3", "ReferenceRegion": "chr14:86300519-86300603", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA3, MJD", "NormalMax": 44, "PathologicMin": 60, "Gene": "ATXN3" }, { "LocusId": "ALS1_NIPA1", "ReferenceRegion": "chr15:20458510-20458536", "LocusStructure": "(GCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCG", "Disease": "ALS1", "NormalMax": 10, "PathologicMin": 11, "Gene": "NIPA1" }, { "LocusId": "MIR7-2_CHNG3", "ReferenceRegion": "chr15:86324038-86324057", "LocusStructure": "(TTTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTG", "Disease": "CHNG3", "NormalMax": 4, "PathologicMin": 5, "Gene": "MIR7-2" }, { "LocusId": "CPEO_POLG", "ReferenceRegion": ["chr15:87088402-87088408", "chr15:87088408-87088411", "chr15:87088411-87088452"], "LocusStructure": "(GCT)*(GTT)*(GCT)*", "VariantType": ["Repeat", "Repeat", "Repeat"], "VariantId": ["CPEO_POLG_GCT", "CPEO_POLG_GTT", "CPEO_POLG"], "PathologicRegion": "chr15:87088411-87088452", "HGNCId": null, "InheritanceMode": [], "DisplayRU": "GCT", "Disease": "CPEO", "NormalMax": 10, "PathologicMin": 11, "Gene": "POLG" }, { "LocusId": "DBQD2_XYLT1", "ReferenceRegion": ["chr16:17477909-17477909", "chr16:17477909-17478002"], "LocusStructure": "(GCC)*(GCC)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["DBQD2_XYLT1_GCC", "DBQD2_XYLT1"], "PathologicRegion": "chr16:17477909-17478002", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCC", "Disease": "DBQD2, BSS", "NormalMax": 20, "PathologicMin": 72, "Gene": "XYLT1" }, { "LocusId": "FAME6_TNRC6A", "ReferenceRegion": ["chr16:24890366-24890416", "chr16:24890416-24890430"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME6_TNRC6A_TTTTA", "FAME6_TNRC6A"], "PathologicRegion": "chr16:24890416-24890430", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME6", "NormalMax": 1099, "PathologicMin": 1100, "Gene": "TNRC6A" }, { "LocusId": "SCA31_BEAN1", "ReferenceRegion": "chr16:72284666-72284761", "LocusStructure": "(TGGAA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGGAA", "Disease": "SCA31", "NormalMax": 109, "PathologicMin": 110, "Gene": "BEAN1" }, { "LocusId": "SCA_THAP11", "ReferenceRegion": "chr16:73638636-73638724", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "SCA", "NormalMax": 38, "PathologicMin": 45, "Gene": "THAP11" }, { "LocusId": "SCA4_ZFHX3", "ReferenceRegion": "chr16:78605502-78605569", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "SCA4", "NormalMax": 26, "PathologicMin": 46, "Gene": "ZFHX3" }, { "LocusId": "HDL2_JPH3", "ReferenceRegion": "chr16:93675723-93675776", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "HDL2", "NormalMax": 28, "PathologicMin": 40, "Gene": "JPH3" }, { "LocusId": "FAME8_RAI1", "ReferenceRegion": ["chr17:17754961-17755051", "chr17:17755051-17755053"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME8_RAI1_TTTTA", "FAME8_RAI1"], "PathologicRegion": "chr17:17755051-17755053", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME8", "NormalMax": 8, "PathologicMin": 9, "Gene": "RAI1" }, { "LocusId": "RCPS_EIF4A3", "ReferenceRegion": "chr17:81047404-81047534", "LocusStructure": "(CCTCGCTGTGCCGCTGCCGA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "CCTCGCTGTGCCGCTGCCGA", "Disease": "RCPS", "NormalMax": 12, "PathologicMin": 14, "Gene": "EIF4A3" }, { "LocusId": "CPUM_TYMS", "ReferenceRegion": "chr18:821235-821905", "LocusStructure": "(GATGGT)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GATGGT", "Disease": "CPUM", "NormalMax": 172, "PathologicMin": 210, "Gene": "TYMS" }, { "LocusId": "FECD3_TCF4", "ReferenceRegion": "chr18:55789233-55789288", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "FECD3", "NormalMax": 39, "PathologicMin": 51, "Gene": "TCF4" }, { "LocusId": "MRUPAV_PLIN4", "ReferenceRegion": "chr19:4494212-4497342", "LocusStructure": "(TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC", "Disease": "MRUPAV", "NormalMax": 31, "PathologicMin": 37, "Gene": "PLIN4" }, { "LocusId": "SCA6_CACNA1A", "ReferenceRegion": "chr19:13333136-13333176", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA6", "NormalMax": 18, "PathologicMin": 21, "Gene": "CACNA1A" }, { "LocusId": "OPDM2_GIPC1", "ReferenceRegion": "chr19:14622655-14622692", "LocusStructure": "(CCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CCG", "Disease": "OPDM2", "NormalMax": 32, "PathologicMin": 73, "Gene": "GIPC1" }, { "LocusId": "EDM1-PSACH_COMP", "ReferenceRegion": "chr19:18921630-18921645", "LocusStructure": "(GTC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GTC", "Disease": "EDM1, PSACH", "NormalMax": 5, "PathologicMin": 6, "Gene": "COMP" }, { "LocusId": "DM1_DMPK", "ReferenceRegion": "chr19:48597739-48597756", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "DM1", "NormalMax": 34, "PathologicMin": 50, "Gene": "DMPK" }, { "LocusId": "SCA36_NOP56", "ReferenceRegion": ["chr20:2683189-2683230", "chr20:2683230-2683248"], "LocusStructure": "(GGCCTG)*(CGCCTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA36_NOP56", "SCA36_NOP56_CGCCTG"], "PathologicRegion": "chr20:2683189-2683230", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGCCTG", "Disease": "SCA36", "NormalMax": 14, "PathologicMin": 650, "Gene": "NOP56" }, { "LocusId": "CJD_PRNP", "ReferenceRegion": ["chr20:4738606-4738633", "chr20:4738633-4738705"], "LocusStructure": "(CCTCAGGGCGGTGGTGGCTGGGGGCAG)*(CCTCATGGTGGTGGCTGGGGGCAG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["CJD_PRNP_CCTCAGGGCGGTGGTGGCTGGGGGCAG", "CJD_PRNP"], "PathologicRegion": "chr20:4738633-4738705", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CCTCATGGTGGTGGCTGGGGGCAG", "Disease": "CJD", "NormalMax": 4, "PathologicMin": 5, "Gene": "PRNP" }, { "LocusId": "EPM1_CSTB", "ReferenceRegion": "chr21:42132054-42132091", "LocusStructure": "(CGCGGGGCGGGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "CGCGGGGCGGGG", "Disease": "EPM1", "NormalMax": 3, "PathologicMin": 30, "Gene": "CSTB" }, { "LocusId": "TOF_TBX1", "ReferenceRegion": "chr22:20143615-20143660", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "TOF", "NormalMax": 15, "PathologicMin": 25, "Gene": "TBX1" }, { "LocusId": "SCA10_ATXN10", "ReferenceRegion": "chr22:46280059-46280134", "LocusStructure": "(ATTCT)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "ATTCT", "Disease": "SCA10", "NormalMax": 32, "PathologicMin": 800, "Gene": "ATXN10" }, { "LocusId": "PRTS_ARX", "ReferenceRegion": "chrX:24597766-24597802", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "PRTS", "NormalMax": 12, "PathologicMin": 20, "Gene": "ARX" }, { "LocusId": "EIEE1_ARX", "ReferenceRegion": "chrX:24597886-24597934", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "EIEE1", "NormalMax": 16, "PathologicMin": 17, "Gene": "ARX" }, { "LocusId": "DMD_DMD", "ReferenceRegion": ["chrX:30882677-30882743", "chrX:30882743-30882751"], "LocusStructure": "(TTC)*(T)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["DMD_DMD", "DMD_DMD_T"], "PathologicRegion": "chrX:30882677-30882743", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "TTC", "Disease": "DMD", "NormalMax": 33, "PathologicMin": 59, "Gene": "DMD" }, { "LocusId": "SBMA_AR", "ReferenceRegion": "chrX:65975147-65975250", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCA", "Disease": "SBMA", "NormalMax": 34, "PathologicMin": 38, "Gene": "AR" }, { "LocusId": "XDP_TAF1", "ReferenceRegion": "chrX:69887153-69887230", "LocusStructure": "(AGAGGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "AGAGGG", "Disease": "XDP", "NormalMax": 34, "PathologicMin": 35, "Gene": "TAF1" }, { "LocusId": "VACTERLX_ZIC3", "ReferenceRegion": "chrX:135876774-135876804", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCN", "Disease": "VACTERLX", "NormalMax": 10, "PathologicMin": 12, "Gene": "ZIC3" }, { "LocusId": "XLMR_SOX3", "ReferenceRegion": "chrX:138816203-138816248", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "XLMR", "NormalMax": 15, "PathologicMin": 22, "Gene": "SOX3" }, { "LocusId": "FXS_FMR1", "ReferenceRegion": "chrX:146176677-146176769", "LocusStructure": "(CGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XD"], "DisplayRU": "CGG", "Disease": "FXS, FXTAS, POF1", "NormalMax": 44, "PathologicMin": 201, "Gene": "FMR1" }, { "LocusId": "FRAXE_AFF2", "ReferenceRegion": "chrX:146765190-146765342", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCC", "Disease": "FRAXE", "NormalMax": 39, "PathologicMin": 201, "Gene": "AFF2" }]