[ { "LocusId": "HMNR7_VWA1", "ReferenceRegion": "chr1:1435798-1435818", "LocusStructure": "(GGCGCGGAGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GGCGCGGAGC", "Disease": "HMNR7", "NormalMax": 2, "PathologicMin": 3, "Gene": "VWA1" }, { "LocusId": "SCA37_DAB1", "ReferenceRegion": ["chr1:57367043-57367078", "chr1:57367078-57367121"], "LocusStructure": "(AAAAT)*(GAAAT)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA37_DAB1_AAAAT", "SCA37_DAB1"], "PathologicRegion": "chr1:57367078-57367121", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GAAAT", "Disease": "SCA37", "NormalMax": 30, "PathologicMin": 31, "Gene": "DAB1" }, { "LocusId": "OPDM5_ABCD3", "ReferenceRegion": "chr1:94418421-94418444", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "OPDM5", "NormalMax": 44, "PathologicMin": 118, "Gene": "ABCD3" }, { "LocusId": "NIID_NOTCH2NLC", "ReferenceRegion": "chr1:149390802-149390842", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "NIID", "NormalMax": 37, "PathologicMin": 66, "Gene": "NOTCH2NLC" }, { "LocusId": "NME_NAXE", "ReferenceRegion": "chr1:156591765-156591783", "LocusStructure": "(GGGCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GGGCC", "Disease": "NME", "NormalMax": 7, "PathologicMin": 200, "Gene": "NAXE" }, { "LocusId": "FAME2_STARD7", "ReferenceRegion": ["chr2:96197066-96197069", "chr2:96197069-96197124"], "LocusStructure": "(AAATG)*(AAAAT)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME2_STARD7", "FAME2_STARD7_AAAAT"], "PathologicRegion": "chr2:96197066-96197069", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "AAATG", "Disease": "FAME2", "NormalMax": 273, "PathologicMin": 274, "Gene": "STARD7" }, { "LocusId": "FRA2A_AFF3", "ReferenceRegion": "chr2:100104798-100104824", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "FRA2A", "NormalMax": 20, "PathologicMin": 300, "Gene": "AFF3" }, { "LocusId": "SD5_HOXD13", "ReferenceRegion": "chr2:176093058-176093103", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "SD5", "NormalMax": 15, "PathologicMin": 22, "Gene": "HOXD13" }, { "LocusId": "GDPAG_GLS", "ReferenceRegion": "chr2:190880872-190880920", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCA", "Disease": "GDPAG", "NormalMax": 38, "PathologicMin": 680, "Gene": "GLS" }, { "LocusId": "SCA7_ATXN7", "ReferenceRegion": ["chr3:63912684-63912715", "chr3:63912715-63912727"], "LocusStructure": "(CAG)*(CCG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA7_ATXN7", "SCA7_ATXN7_CCG"], "PathologicRegion": "chr3:63912684-63912715", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "SCA7", "NormalMax": 27, "PathologicMin": 37, "Gene": "ATXN7" }, { "LocusId": "DM2_CNBP", "ReferenceRegion": ["chr3:129172576-129172656", "chr3:129172656-129172696", "chr3:129172696-129172734"], "LocusStructure": "(CAGG)*(CAGA)*(CA)*", "VariantType": ["Repeat", "Repeat", "Repeat"], "VariantId": ["DM2_CNBP", "DM2_CNBP_CAGA", "DM2_CNBP_CA"], "PathologicRegion": "chr3:129172576-129172656", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAGG", "Disease": "DM2", "NormalMax": 26, "PathologicMin": 75, "Gene": "CNBP" }, { "LocusId": "BPES_FOXL2", "ReferenceRegion": "chr3:138946019-138946062", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "NGC", "Disease": "BPES", "NormalMax": 14, "PathologicMin": 15, "Gene": "FOXL2" }, { "LocusId": "FAME4_YEATS2", "ReferenceRegion": ["chr3:183712187-183712222", "chr3:183712222-183712226"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME4_YEATS2_TTTTA", "FAME4_YEATS2"], "PathologicRegion": "chr3:183712222-183712226", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME4", "NormalMax": 999, "PathologicMin": 1000, "Gene": "YEATS2" }, { "LocusId": "HD_HTT", "ReferenceRegion": ["chr4:3074876-3074927", "chr4:3074933-3074969"], "LocusStructure": "(CAG)*CAACAG(CCG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["HD_HTT", "HD_HTT_CCG"], "PathologicRegion": "chr4:3074876-3074927", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "HD", "NormalMax": 26, "PathologicMin": 36, "Gene": "HTT" }, { "LocusId": "CANVAS_RFC1", "ReferenceRegion": ["chr4:39348424-39348479", "chr4:39348479-39348483"], "LocusStructure": "(AAAAG)*(AAGGG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["CANVAS_RFC1_AAAAG", "CANVAS_RFC1"], "PathologicRegion": "chr4:39348479-39348483", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "AAGGG", "Disease": "CANVAS", "NormalMax": 11, "PathologicMin": 400, "Gene": "RFC1" }, { "LocusId": "CCHS_PHOX2B", "ReferenceRegion": "chr4:41745972-41746032", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "CCHS", "NormalMax": 20, "PathologicMin": 26, "Gene": "PHOX2B" }, { "LocusId": "FAME7_RAPGEF2", "ReferenceRegion": ["chr4:159342526-159342611", "chr4:159342611-159342618"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME7_RAPGEF2_TTTTA", "FAME7_RAPGEF2"], "PathologicRegion": "chr4:159342611-159342618", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME7", "NormalMax": 59, "PathologicMin": 60, "Gene": "RAPGEF2" }, { "LocusId": "FAME3_MARCHF6", "ReferenceRegion": ["chr5:10356343-10356403", "chr5:10356403-10356411"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME3_MARCHF6_TTTTA", "FAME3_MARCHF6"], "PathologicRegion": "chr5:10356403-10356411", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME3", "NormalMax": 790, "PathologicMin": 791, "Gene": "MARCHF6" }, { "LocusId": "SCA12_PPP2R2B", "ReferenceRegion": "chr5:146878727-146878759", "LocusStructure": "(GCT)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCT", "Disease": "SCA12", "NormalMax": 32, "PathologicMin": 51, "Gene": "PPP2R2B" }, { "LocusId": "SCA1_ATXN1", "ReferenceRegion": "chr6:16327633-16327724", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA1", "NormalMax": 35, "PathologicMin": 39, "Gene": "ATXN1" }, { "LocusId": "CCD_RUNX2", "ReferenceRegion": "chr6:45422750-45422801", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "CCD", "NormalMax": 17, "PathologicMin": 20, "Gene": "RUNX2" }, { "LocusId": "SCA17_TBP", "ReferenceRegion": "chr6:170561906-170562017", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCA", "Disease": "SCA17", "NormalMax": 40, "PathologicMin": 49, "Gene": "TBP" }, { "LocusId": "HFG_HOXA13-III", "ReferenceRegion": "chr7:27199678-27199732", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-III", "NormalMax": 18, "PathologicMin": 22, "Gene": "HOXA13" }, { "LocusId": "HFG_HOXA13-II", "ReferenceRegion": "chr7:27199825-27199861", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-II", "NormalMax": 12, "PathologicMin": 18, "Gene": "HOXA13" }, { "LocusId": "HFG_HOXA13-I", "ReferenceRegion": "chr7:27199924-27199966", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-I", "NormalMax": 14, "PathologicMin": 22, "Gene": "HOXA13" }, { "LocusId": "FRA7A_ZNF713", "ReferenceRegion": "chr7:55887600-55887639", "LocusStructure": "(GCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCG", "Disease": "FRA7A", "NormalMax": 22, "PathologicMin": 450, "Gene": "ZNF713" }, { "LocusId": "OPDM1_LRP12", "ReferenceRegion": "chr8:104588970-104588999", "LocusStructure": "(CGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CGC", "Disease": "OPDM1", "NormalMax": 45, "PathologicMin": 85, "Gene": "LRP12" }, { "LocusId": "FAME1_SAMD12", "ReferenceRegion": ["chr8:118366812-118366912", "chr8:118366912-118366918"], "LocusStructure": "(TAAAA)*(TGAAA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME1_SAMD12_TAAAA", "FAME1_SAMD12"], "PathologicRegion": "chr8:118366912-118366918", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGAAA", "Disease": "FAME1", "NormalMax": 104, "PathologicMin": 105, "Gene": "SAMD12" }, { "LocusId": "FTDALS1_C9orf72", "ReferenceRegion": "chr9:27573484-27573546", "LocusStructure": "(GGCCCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGCCCC", "Disease": "FTDALS1", "NormalMax": 23, "PathologicMin": 251, "Gene": "C9orf72" }, { "LocusId": "FRDA_FXN", "ReferenceRegion": ["chr9:69037270-69037286", "chr9:69037286-69037304"], "LocusStructure": "(A)*(GAA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FRDA_FXN_A", "FRDA_FXN"], "PathologicRegion": "chr9:69037286-69037304", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GAA", "Disease": "FRDA", "NormalMax": 33, "PathologicMin": 56, "Gene": "FXN" }, { "LocusId": "HSAN-VIII_PRDM12", "ReferenceRegion": "chr9:130681605-130681641", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCC", "Disease": "HSAN VIII", "NormalMax": 14, "PathologicMin": 18, "Gene": "PRDM12" }, { "LocusId": "OPML1_NUTM2B-AS1", "ReferenceRegion": "chr10:79826383-79826404", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "OPML1", "NormalMax": 16, "PathologicMin": 161, "Gene": "NUTM2B-AS1" }, { "LocusId": "JBS_CBL", "ReferenceRegion": "chr11:119206289-119206323", "LocusStructure": "(CGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CGG", "Disease": "JBS", "NormalMax": 79, "PathologicMin": 101, "Gene": "CBL" }, { "LocusId": "DRPLA_ATN1", "ReferenceRegion": "chr12:6936716-6936775", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "DRPLA", "NormalMax": 35, "PathologicMin": 48, "Gene": "ATN1" }, { "LocusId": "FRA12A_DIP2B", "ReferenceRegion": "chr12:50505001-50505024", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "FRA12A", "NormalMax": 23, "PathologicMin": 273, "Gene": "DIP2B" }, { "LocusId": "SCA2_ATXN2", "ReferenceRegion": "chr12:111598949-111599019", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "CTG", "Disease": "SCA2", "NormalMax": 30, "PathologicMin": 35, "Gene": "ATXN2" }, { "LocusId": "OPDM4_RILPL1", "ReferenceRegion": "chr12:123533720-123533750", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "OPDM4", "NormalMax": 16, "PathologicMin": 120, "Gene": "RILPL1" }, { "LocusId": "SCA8_ATXN8OS", "ReferenceRegion": ["chr13:70139353-70139383", "chr13:70139383-70139429"], "LocusStructure": "(CTA)*(CTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"], "PathologicRegion": "chr13:70139383-70139429", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA8", "NormalMax": 50, "PathologicMin": 71, "Gene": "ATXN8OS" }, { "LocusId": "HPE5_ZIC2", "ReferenceRegion": "chr13:99985448-99985494", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "HPE5", "NormalMax": 15, "PathologicMin": 25, "Gene": "ZIC2" }, { "LocusId": "SCA27B_FGF14", "ReferenceRegion": "chr13:102161574-102161726", "LocusStructure": "(GAA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GAA", "Disease": "SCA27B", "NormalMax": 179, "PathologicMin": 320, "Gene": "FGF14" }, { "LocusId": "OPMD_PABPN1", "ReferenceRegion": "chr14:23321472-23321503", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "GCN", "Disease": "OPMD", "NormalMax": 10, "PathologicMin": 12, "Gene": "PABPN1" }, { "LocusId": "SCA3_ATXN3", "ReferenceRegion": "chr14:92071010-92071052", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA3, MJD", "NormalMax": 44, "PathologicMin": 60, "Gene": "ATXN3" }, { "LocusId": "ALS1_NIPA1", "ReferenceRegion": "chr15:22786677-22786703", "LocusStructure": "(GCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCG", "Disease": "ALS1", "NormalMax": 10, "PathologicMin": 11, "Gene": "NIPA1" }, { "LocusId": "MIR7-2_CHNG3", "ReferenceRegion": "chr15:88569433-88569452", "LocusStructure": "(TTTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTG", "Disease": "CHNG3", "NormalMax": 4, "PathologicMin": 5, "Gene": "MIR7-2" }, { "LocusId": "CPEO_POLG", "ReferenceRegion": ["chr15:89333579-89333585", "chr15:89333585-89333588", "chr15:89333588-89333629"], "LocusStructure": "(GCT)*(GTT)*(GCT)*", "VariantType": ["Repeat", "Repeat", "Repeat"], "VariantId": ["CPEO_POLG_GCT", "CPEO_POLG_GTT", "CPEO_POLG"], "PathologicRegion": "chr15:89333588-89333629", "HGNCId": null, "InheritanceMode": [], "DisplayRU": "GCT", "Disease": "CPEO", "NormalMax": 10, "PathologicMin": 11, "Gene": "POLG" }, { "LocusId": "DBQD2_XYLT1", "ReferenceRegion": ["chr16:17470907-17470907", "chr16:17470907-17470922"], "LocusStructure": "(GCC)*(GCC)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["DBQD2_XYLT1_GCC", "DBQD2_XYLT1"], "PathologicRegion": "chr16:17470907-17470922", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCC", "Disease": "DBQD2, BSS", "NormalMax": 20, "PathologicMin": 72, "Gene": "XYLT1" }, { "LocusId": "FAME6_TNRC6A", "ReferenceRegion": ["chr16:24613438-24613488", "chr16:24613488-24613532"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME6_TNRC6A_TTTTA", "FAME6_TNRC6A"], "PathologicRegion": "chr16:24613488-24613532", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME6", "NormalMax": 1099, "PathologicMin": 1100, "Gene": "TNRC6A" }, { "LocusId": "SCA31_BEAN1", "ReferenceRegion": "chr16:66490396-66490466", "LocusStructure": "(TGGAA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGGAA", "Disease": "SCA31", "NormalMax": 109, "PathologicMin": 110, "Gene": "BEAN1" }, { "LocusId": "SCA_THAP11", "ReferenceRegion": "chr16:67842862-67842950", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "SCA", "NormalMax": 38, "PathologicMin": 45, "Gene": "THAP11" }, { "LocusId": "SCA4_ZFHX3", "ReferenceRegion": "chr16:72787694-72787758", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "SCA4", "NormalMax": 26, "PathologicMin": 46, "Gene": "ZFHX3" }, { "LocusId": "HDL2_JPH3", "ReferenceRegion": "chr16:87604282-87604329", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "HDL2", "NormalMax": 28, "PathologicMin": 40, "Gene": "JPH3" }, { "LocusId": "FAME8_RAI1", "ReferenceRegion": ["chr17:17808358-17808448", "chr17:17808448-17808460"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME8_RAI1_TTTTA", "FAME8_RAI1"], "PathologicRegion": "chr17:17808448-17808460", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME8", "NormalMax": 8, "PathologicMin": 9, "Gene": "RAI1" }, { "LocusId": "RCPS_EIF4A3", "ReferenceRegion": "chr17:80147009-80147139", "LocusStructure": "(CCTCGCTGTGCCGCTGCCGA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "CCTCGCTGTGCCGCTGCCGA", "Disease": "RCPS", "NormalMax": 12, "PathologicMin": 14, "Gene": "EIF4A3" }, { "LocusId": "CPUM_TYMS", "ReferenceRegion": "chr18:666891-667632", "LocusStructure": "(GATGGT)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GATGGT", "Disease": "CPUM", "NormalMax": 172, "PathologicMin": 210, "Gene": "TYMS" }, { "LocusId": "FECD3_TCF4", "ReferenceRegion": "chr18:55586153-55586229", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "FECD3", "NormalMax": 39, "PathologicMin": 51, "Gene": "TCF4" }, { "LocusId": "MRUPAV_PLIN4", "ReferenceRegion": "chr19:4510727-4513659", "LocusStructure": "(TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC", "Disease": "MRUPAV", "NormalMax": 31, "PathologicMin": 37, "Gene": "PLIN4" }, { "LocusId": "SCA6_CACNA1A", "ReferenceRegion": "chr19:13207858-13207898", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA6", "NormalMax": 18, "PathologicMin": 21, "Gene": "CACNA1A" }, { "LocusId": "OPDM2_GIPC1", "ReferenceRegion": "chr19:14496041-14496075", "LocusStructure": "(CCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CCG", "Disease": "OPDM2", "NormalMax": 32, "PathologicMin": 73, "Gene": "GIPC1" }, { "LocusId": "EDM1-PSACH_COMP", "ReferenceRegion": "chr19:18786034-18786050", "LocusStructure": "(GTC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GTC", "Disease": "EDM1, PSACH", "NormalMax": 5, "PathologicMin": 6, "Gene": "COMP" }, { "LocusId": "DM1_DMPK", "ReferenceRegion": "chr19:45770204-45770266", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "DM1", "NormalMax": 34, "PathologicMin": 50, "Gene": "DMPK" }, { "LocusId": "SCA36_NOP56", "ReferenceRegion": ["chr20:2652732-2652757", "chr20:2652757-2652775"], "LocusStructure": "(GGCCTG)*(CGCCTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA36_NOP56", "SCA36_NOP56_CGCCTG"], "PathologicRegion": "chr20:2652732-2652757", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGCCTG", "Disease": "SCA36", "NormalMax": 14, "PathologicMin": 650, "Gene": "NOP56" }, { "LocusId": "CJD_PRNP", "ReferenceRegion": ["chr20:4699370-4699397", "chr20:4699397-4699493"], "LocusStructure": "(CCTCAGGGCGGTGGTGGCTGGGGGCAG)*(CCTCATGGTGGTGGCTGGGGGCAG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["CJD_PRNP_CCTCAGGGCGGTGGTGGCTGGGGGCAG", "CJD_PRNP"], "PathologicRegion": "chr20:4699397-4699493", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CCTCATGGTGGTGGCTGGGGGCAG", "Disease": "CJD", "NormalMax": 4, "PathologicMin": 5, "Gene": "PRNP" }, { "LocusId": "EPM1_CSTB", "ReferenceRegion": "chr21:43776442-43776479", "LocusStructure": "(CGCGGGGCGGGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "CGCGGGGCGGGG", "Disease": "EPM1", "NormalMax": 3, "PathologicMin": 30, "Gene": "CSTB" }, { "LocusId": "TOF_TBX1", "ReferenceRegion": "chr22:19766762-19766807", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "TOF", "NormalMax": 15, "PathologicMin": 25, "Gene": "TBX1" }, { "LocusId": "SCA10_ATXN10", "ReferenceRegion": "chr22:45795354-45795424", "LocusStructure": "(ATTCT)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "ATTCT", "Disease": "SCA10", "NormalMax": 32, "PathologicMin": 800, "Gene": "ATXN10" }, { "LocusId": "PRTS_ARX", "ReferenceRegion": "chrX:25013529-25013565", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "PRTS", "NormalMax": 12, "PathologicMin": 20, "Gene": "ARX" }, { "LocusId": "EIEE1_ARX", "ReferenceRegion": "chrX:25013649-25013697", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "EIEE1", "NormalMax": 16, "PathologicMin": 17, "Gene": "ARX" }, { "LocusId": "DMD_DMD", "ReferenceRegion": ["chrX:31284557-31284605", "chrX:31284605-31284613"], "LocusStructure": "(TTC)*(T)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["DMD_DMD", "DMD_DMD_T"], "PathologicRegion": "chrX:31284557-31284605", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "TTC", "Disease": "DMD", "NormalMax": 33, "PathologicMin": 59, "Gene": "DMD" }, { "LocusId": "SBMA_AR", "ReferenceRegion": "chrX:67545316-67545419", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCA", "Disease": "SBMA", "NormalMax": 34, "PathologicMin": 38, "Gene": "AR" }, { "LocusId": "XDP_TAF1", "ReferenceRegion": "chrX:71453054-71453131", "LocusStructure": "(AGAGGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "AGAGGG", "Disease": "XDP", "NormalMax": 34, "PathologicMin": 35, "Gene": "TAF1" }, { "LocusId": "VACTERLX_ZIC3", "ReferenceRegion": "chrX:137566826-137566856", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCN", "Disease": "VACTERLX", "NormalMax": 10, "PathologicMin": 12, "Gene": "ZIC3" }, { "LocusId": "XLMR_SOX3", "ReferenceRegion": "chrX:140504316-140504361", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "XLMR", "NormalMax": 15, "PathologicMin": 22, "Gene": "SOX3" }, { "LocusId": "FXS_FMR1", "ReferenceRegion": "chrX:147912049-147912111", "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:148500604-148500753", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCC", "Disease": "FRAXE", "NormalMax": 39, "PathologicMin": 201, "Gene": "AFF2" }]