[ { "LocusId": "HMNR7_VWA1", "ReferenceRegion": "chr1:1371178-1371198", "LocusStructure": "(GGCGCGGAGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GGCGCGGAGC", "Disease": "HMNR7", "NormalMax": 2, "PathologicMin": 3, "Gene": "VWA1" }, { "LocusId": "SCA37_DAB1", "ReferenceRegion": ["chr1:57832715-57832750", "chr1:57832750-57832793"], "LocusStructure": "(AAAAT)*(GAAAT)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA37_DAB1_AAAAT", "SCA37_DAB1"], "PathologicRegion": "chr1:57832750-57832793", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GAAAT", "Disease": "SCA37", "NormalMax": 30, "PathologicMin": 31, "Gene": "DAB1" }, { "LocusId": "OPDM5_ABCD3", "ReferenceRegion": "chr1:94883977-94884000", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "OPDM5", "NormalMax": 44, "PathologicMin": 118, "Gene": "ABCD3" }, { "LocusId": "NIID_NOTCH2NLC", "ReferenceRegion": "chr1:145209323-145209354", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "NIID", "NormalMax": 37, "PathologicMin": 66, "Gene": "NOTCH2NLC" }, { "LocusId": "NME_NAXE", "ReferenceRegion": "chr1:156561557-156561575", "LocusStructure": "(GGGCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GGGCC", "Disease": "NME", "NormalMax": 7, "PathologicMin": 200, "Gene": "NAXE" }, { "LocusId": "FAME2_STARD7", "ReferenceRegion": ["chr2:96862804-96862807", "chr2:96862807-96862862"], "LocusStructure": "(AAATG)*(AAAAT)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME2_STARD7", "FAME2_STARD7_AAAAT"], "PathologicRegion": "chr2:96862804-96862807", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "AAATG", "Disease": "FAME2", "NormalMax": 273, "PathologicMin": 274, "Gene": "STARD7" }, { "LocusId": "FRA2A_AFF3", "ReferenceRegion": "chr2:100721260-100721286", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "FRA2A", "NormalMax": 20, "PathologicMin": 300, "Gene": "AFF3" }, { "LocusId": "SD5_HOXD13", "ReferenceRegion": "chr2:176957786-176957831", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "SD5", "NormalMax": 15, "PathologicMin": 22, "Gene": "HOXD13" }, { "LocusId": "GDPAG_GLS", "ReferenceRegion": "chr2:191745598-191745646", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCA", "Disease": "GDPAG", "NormalMax": 38, "PathologicMin": 680, "Gene": "GLS" }, { "LocusId": "SCA7_ATXN7", "ReferenceRegion": ["chr3:63898360-63898391", "chr3:63898391-63898403"], "LocusStructure": "(CAG)*(CCG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA7_ATXN7", "SCA7_ATXN7_CCG"], "PathologicRegion": "chr3:63898360-63898391", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "SCA7", "NormalMax": 27, "PathologicMin": 37, "Gene": "ATXN7" }, { "LocusId": "DM2_CNBP", "ReferenceRegion": ["chr3:128891419-128891499", "chr3:128891499-128891539", "chr3:128891539-128891577"], "LocusStructure": "(CAGG)*(CAGA)*(CA)*", "VariantType": ["Repeat", "Repeat", "Repeat"], "VariantId": ["DM2_CNBP", "DM2_CNBP_CAGA", "DM2_CNBP_CA"], "PathologicRegion": "chr3:128891419-128891499", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAGG", "Disease": "DM2", "NormalMax": 26, "PathologicMin": 75, "Gene": "CNBP" }, { "LocusId": "BPES_FOXL2", "ReferenceRegion": "chr3:138664861-138664904", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "NGC", "Disease": "BPES", "NormalMax": 14, "PathologicMin": 15, "Gene": "FOXL2" }, { "LocusId": "FAME4_YEATS2", "ReferenceRegion": ["chr3:183429975-183430010", "chr3:183430010-183430014"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME4_YEATS2_TTTTA", "FAME4_YEATS2"], "PathologicRegion": "chr3:183430010-183430014", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME4", "NormalMax": 999, "PathologicMin": 1000, "Gene": "YEATS2" }, { "LocusId": "HD_HTT", "ReferenceRegion": ["chr4:3076603-3076654", "chr4:3076660-3076696"], "LocusStructure": "(CAG)*CAACAG(CCG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["HD_HTT", "HD_HTT_CCG"], "PathologicRegion": "chr4:3076603-3076654", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "HD", "NormalMax": 26, "PathologicMin": 36, "Gene": "HTT" }, { "LocusId": "CANVAS_RFC1", "ReferenceRegion": ["chr4:39350044-39350099", "chr4:39350099-39350103"], "LocusStructure": "(AAAAG)*(AAGGG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["CANVAS_RFC1_AAAAG", "CANVAS_RFC1"], "PathologicRegion": "chr4:39350099-39350103", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "AAGGG", "Disease": "CANVAS", "NormalMax": 11, "PathologicMin": 400, "Gene": "RFC1" }, { "LocusId": "CCHS_PHOX2B", "ReferenceRegion": "chr4:41747989-41748049", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "CCHS", "NormalMax": 20, "PathologicMin": 26, "Gene": "PHOX2B" }, { "LocusId": "FAME7_RAPGEF2", "ReferenceRegion": ["chr4:160263678-160263763", "chr4:160263763-160263770"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME7_RAPGEF2_TTTTA", "FAME7_RAPGEF2"], "PathologicRegion": "chr4:160263763-160263770", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME7", "NormalMax": 59, "PathologicMin": 60, "Gene": "RAPGEF2" }, { "LocusId": "FAME3_MARCHF6", "ReferenceRegion": ["chr5:10356455-10356515", "chr5:10356515-10356523"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME3_MARCHF6_TTTTA", "FAME3_MARCHF6"], "PathologicRegion": "chr5:10356515-10356523", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME3", "NormalMax": 790, "PathologicMin": 791, "Gene": "MARCHF6" }, { "LocusId": "SCA12_PPP2R2B", "ReferenceRegion": "chr5:146258290-146258322", "LocusStructure": "(GCT)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCT", "Disease": "SCA12", "NormalMax": 32, "PathologicMin": 51, "Gene": "PPP2R2B" }, { "LocusId": "SCA1_ATXN1", "ReferenceRegion": "chr6:16327864-16327955", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA1", "NormalMax": 35, "PathologicMin": 39, "Gene": "ATXN1" }, { "LocusId": "CCD_RUNX2", "ReferenceRegion": "chr6:45390487-45390538", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "CCD", "NormalMax": 17, "PathologicMin": 20, "Gene": "RUNX2" }, { "LocusId": "SCA17_TBP", "ReferenceRegion": "chr6:170870994-170871105", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCA", "Disease": "SCA17", "NormalMax": 40, "PathologicMin": 49, "Gene": "TBP" }, { "LocusId": "HFG_HOXA13-III", "ReferenceRegion": "chr7:27239297-27239351", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-III", "NormalMax": 18, "PathologicMin": 22, "Gene": "HOXA13" }, { "LocusId": "HFG_HOXA13-II", "ReferenceRegion": "chr7:27239444-27239480", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-II", "NormalMax": 12, "PathologicMin": 18, "Gene": "HOXA13" }, { "LocusId": "HFG_HOXA13-I", "ReferenceRegion": "chr7:27239543-27239585", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "NGC", "Disease": "HFG-I", "NormalMax": 14, "PathologicMin": 22, "Gene": "HOXA13" }, { "LocusId": "FRA7A_ZNF713", "ReferenceRegion": "chr7:55955293-55955332", "LocusStructure": "(GCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCG", "Disease": "FRA7A", "NormalMax": 22, "PathologicMin": 450, "Gene": "ZNF713" }, { "LocusId": "OPDM1_LRP12", "ReferenceRegion": "chr8:105601198-105601227", "LocusStructure": "(CGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CGC", "Disease": "OPDM1", "NormalMax": 45, "PathologicMin": 85, "Gene": "LRP12" }, { "LocusId": "FAME1_SAMD12", "ReferenceRegion": ["chr8:119379051-119379151", "chr8:119379151-119379157"], "LocusStructure": "(TAAAA)*(TGAAA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME1_SAMD12_TAAAA", "FAME1_SAMD12"], "PathologicRegion": "chr8:119379151-119379157", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGAAA", "Disease": "FAME1", "NormalMax": 104, "PathologicMin": 105, "Gene": "SAMD12" }, { "LocusId": "FTDALS1_C9orf72", "ReferenceRegion": "chr9:27573482-27573544", "LocusStructure": "(GGCCCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGCCCC", "Disease": "FTDALS1", "NormalMax": 23, "PathologicMin": 251, "Gene": "C9orf72" }, { "LocusId": "FRDA_FXN", "ReferenceRegion": ["chr9:71652186-71652202", "chr9:71652202-71652220"], "LocusStructure": "(A)*(GAA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FRDA_FXN_A", "FRDA_FXN"], "PathologicRegion": "chr9:71652202-71652220", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GAA", "Disease": "FRDA", "NormalMax": 33, "PathologicMin": 56, "Gene": "FXN" }, { "LocusId": "HSAN-VIII_PRDM12", "ReferenceRegion": "chr9:133556992-133557028", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCC", "Disease": "HSAN VIII", "NormalMax": 14, "PathologicMin": 18, "Gene": "PRDM12" }, { "LocusId": "OPML1_NUTM2B-AS1", "ReferenceRegion": "chr10:81586139-81586160", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "OPML1", "NormalMax": 16, "PathologicMin": 161, "Gene": "NUTM2B-AS1" }, { "LocusId": "JBS_CBL", "ReferenceRegion": "chr11:119076999-119077033", "LocusStructure": "(CGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CGG", "Disease": "JBS", "NormalMax": 79, "PathologicMin": 101, "Gene": "CBL" }, { "LocusId": "DRPLA_ATN1", "ReferenceRegion": "chr12:7045879-7045938", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "DRPLA", "NormalMax": 35, "PathologicMin": 48, "Gene": "ATN1" }, { "LocusId": "FRA12A_DIP2B", "ReferenceRegion": "chr12:50898784-50898807", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "FRA12A", "NormalMax": 23, "PathologicMin": 273, "Gene": "DIP2B" }, { "LocusId": "SCA2_ATXN2", "ReferenceRegion": "chr12:112036753-112036823", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "CTG", "Disease": "SCA2", "NormalMax": 30, "PathologicMin": 35, "Gene": "ATXN2" }, { "LocusId": "OPDM4_RILPL1", "ReferenceRegion": "chr12:124018267-124018297", "LocusStructure": "(GGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGC", "Disease": "OPDM4", "NormalMax": 16, "PathologicMin": 120, "Gene": "RILPL1" }, { "LocusId": "SCA8_ATXN8OS", "ReferenceRegion": ["chr13:70713485-70713515", "chr13:70713515-70713561"], "LocusStructure": "(CTA)*(CTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"], "PathologicRegion": "chr13:70713515-70713561", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA8", "NormalMax": 50, "PathologicMin": 71, "Gene": "ATXN8OS" }, { "LocusId": "HPE5_ZIC2", "ReferenceRegion": "chr13:100637702-100637748", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "HPE5", "NormalMax": 15, "PathologicMin": 25, "Gene": "ZIC2" }, { "LocusId": "SCA27B_FGF14", "ReferenceRegion": "chr13:102813924-102814076", "LocusStructure": "(GAA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GAA", "Disease": "SCA27B", "NormalMax": 179, "PathologicMin": 320, "Gene": "FGF14" }, { "LocusId": "OPMD_PABPN1", "ReferenceRegion": "chr14:23790681-23790712", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD", "AR"], "DisplayRU": "GCN", "Disease": "OPMD", "NormalMax": 10, "PathologicMin": 12, "Gene": "PABPN1" }, { "LocusId": "SCA3_ATXN3", "ReferenceRegion": "chr14:92537354-92537396", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA3, MJD", "NormalMax": 44, "PathologicMin": 60, "Gene": "ATXN3" }, { "LocusId": "ALS1_NIPA1", "ReferenceRegion": "chr15:23086363-23086389", "LocusStructure": "(GCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCG", "Disease": "ALS1", "NormalMax": 10, "PathologicMin": 11, "Gene": "NIPA1" }, { "LocusId": "MIR7-2_CHNG3", "ReferenceRegion": "chr15:89112664-89112683", "LocusStructure": "(TTTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTG", "Disease": "CHNG3", "NormalMax": 4, "PathologicMin": 5, "Gene": "MIR7-2" }, { "LocusId": "CPEO_POLG", "ReferenceRegion": ["chr15:89876810-89876816", "chr15:89876816-89876819", "chr15:89876819-89876860"], "LocusStructure": "(GCT)*(GTT)*(GCT)*", "VariantType": ["Repeat", "Repeat", "Repeat"], "VariantId": ["CPEO_POLG_GCT", "CPEO_POLG_GTT", "CPEO_POLG"], "PathologicRegion": "chr15:89876819-89876860", "HGNCId": null, "InheritanceMode": [], "DisplayRU": "GCT", "Disease": "CPEO", "NormalMax": 10, "PathologicMin": 11, "Gene": "POLG" }, { "LocusId": "DBQD2_XYLT1", "ReferenceRegion": ["chr16:17564764-17564764", "chr16:17564764-17564779"], "LocusStructure": "(GCC)*(GCC)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["DBQD2_XYLT1_GCC", "DBQD2_XYLT1"], "PathologicRegion": "chr16:17564764-17564779", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "GCC", "Disease": "DBQD2, BSS", "NormalMax": 20, "PathologicMin": 72, "Gene": "XYLT1" }, { "LocusId": "FAME6_TNRC6A", "ReferenceRegion": ["chr16:24624759-24624809", "chr16:24624809-24624853"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME6_TNRC6A_TTTTA", "FAME6_TNRC6A"], "PathologicRegion": "chr16:24624809-24624853", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME6", "NormalMax": 1099, "PathologicMin": 1100, "Gene": "TNRC6A" }, { "LocusId": "SCA31_BEAN1", "ReferenceRegion": "chr16:66524299-66524369", "LocusStructure": "(TGGAA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGGAA", "Disease": "SCA31", "NormalMax": 109, "PathologicMin": 110, "Gene": "BEAN1" }, { "LocusId": "SCA_THAP11", "ReferenceRegion": "chr16:67876765-67876853", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "SCA", "NormalMax": 38, "PathologicMin": 45, "Gene": "THAP11" }, { "LocusId": "SCA4_ZFHX3", "ReferenceRegion": "chr16:72821593-72821657", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCC", "Disease": "SCA4", "NormalMax": 26, "PathologicMin": 46, "Gene": "ZFHX3" }, { "LocusId": "HDL2_JPH3", "ReferenceRegion": "chr16:87637888-87637935", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "HDL2", "NormalMax": 28, "PathologicMin": 40, "Gene": "JPH3" }, { "LocusId": "FAME8_RAI1", "ReferenceRegion": ["chr17:17711672-17711762", "chr17:17711762-17711774"], "LocusStructure": "(TTTTA)*(TTTCA)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["FAME8_RAI1_TTTTA", "FAME8_RAI1"], "PathologicRegion": "chr17:17711762-17711774", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TTTCA", "Disease": "FAME8", "NormalMax": 8, "PathologicMin": 9, "Gene": "RAI1" }, { "LocusId": "RCPS_EIF4A3", "ReferenceRegion": "chr17:78120808-78120938", "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": "chr18:53253384-53253460", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "FECD3", "NormalMax": 39, "PathologicMin": 51, "Gene": "TCF4" }, { "LocusId": "MRUPAV_PLIN4", "ReferenceRegion": "chr19:4510739-4513671", "LocusStructure": "(TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC", "Disease": "MRUPAV", "NormalMax": 31, "PathologicMin": 37, "Gene": "PLIN4" }, { "LocusId": "SCA6_CACNA1A", "ReferenceRegion": "chr19:13318672-13318712", "LocusStructure": "(CTG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", "Disease": "SCA6", "NormalMax": 18, "PathologicMin": 21, "Gene": "CACNA1A" }, { "LocusId": "OPDM2_GIPC1", "ReferenceRegion": "chr19:14606853-14606887", "LocusStructure": "(CCG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CCG", "Disease": "OPDM2", "NormalMax": 32, "PathologicMin": 73, "Gene": "GIPC1" }, { "LocusId": "EDM1-PSACH_COMP", "ReferenceRegion": "chr19:18896844-18896860", "LocusStructure": "(GTC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GTC", "Disease": "EDM1, PSACH", "NormalMax": 5, "PathologicMin": 6, "Gene": "COMP" }, { "LocusId": "DM1_DMPK", "ReferenceRegion": "chr19:46273462-46273524", "LocusStructure": "(CAG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CAG", "Disease": "DM1", "NormalMax": 34, "PathologicMin": 50, "Gene": "DMPK" }, { "LocusId": "SCA36_NOP56", "ReferenceRegion": ["chr20:2633378-2633403", "chr20:2633403-2633421"], "LocusStructure": "(GGCCTG)*(CGCCTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA36_NOP56", "SCA36_NOP56_CGCCTG"], "PathologicRegion": "chr20:2633378-2633403", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GGCCTG", "Disease": "SCA36", "NormalMax": 14, "PathologicMin": 650, "Gene": "NOP56" }, { "LocusId": "CJD_PRNP", "ReferenceRegion": ["chr20:4680016-4680043", "chr20:4680043-4680139"], "LocusStructure": "(CCTCAGGGCGGTGGTGGCTGGGGGCAG)*(CCTCATGGTGGTGGCTGGGGGCAG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["CJD_PRNP_CCTCAGGGCGGTGGTGGCTGGGGGCAG", "CJD_PRNP"], "PathologicRegion": "chr20:4680043-4680139", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CCTCATGGTGGTGGCTGGGGGCAG", "Disease": "CJD", "NormalMax": 4, "PathologicMin": 5, "Gene": "PRNP" }, { "LocusId": "EPM1_CSTB", "ReferenceRegion": "chr21:45196323-45196360", "LocusStructure": "(CGCGGGGCGGGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AR"], "DisplayRU": "CGCGGGGCGGGG", "Disease": "EPM1", "NormalMax": 3, "PathologicMin": 30, "Gene": "CSTB" }, { "LocusId": "TOF_TBX1", "ReferenceRegion": "chr22:19754285-19754330", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "GCN", "Disease": "TOF", "NormalMax": 15, "PathologicMin": 25, "Gene": "TBX1" }, { "LocusId": "SCA10_ATXN10", "ReferenceRegion": "chr22:46191234-46191304", "LocusStructure": "(ATTCT)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "ATTCT", "Disease": "SCA10", "NormalMax": 32, "PathologicMin": 800, "Gene": "ATXN10" }, { "LocusId": "PRTS_ARX", "ReferenceRegion": "chrX:25031646-25031682", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "PRTS", "NormalMax": 12, "PathologicMin": 20, "Gene": "ARX" }, { "LocusId": "EIEE1_ARX", "ReferenceRegion": "chrX:25031766-25031814", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "EIEE1", "NormalMax": 16, "PathologicMin": 17, "Gene": "ARX" }, { "LocusId": "DMD_DMD", "ReferenceRegion": ["chrX:31302674-31302722", "chrX:31302722-31302730"], "LocusStructure": "(TTC)*(T)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["DMD_DMD", "DMD_DMD_T"], "PathologicRegion": "chrX:31302674-31302722", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "TTC", "Disease": "DMD", "NormalMax": 33, "PathologicMin": 59, "Gene": "DMD" }, { "LocusId": "SBMA_AR", "ReferenceRegion": "chrX:66765158-66765261", "LocusStructure": "(GCA)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCA", "Disease": "SBMA", "NormalMax": 34, "PathologicMin": 38, "Gene": "AR" }, { "LocusId": "XDP_TAF1", "ReferenceRegion": "chrX:70672904-70672981", "LocusStructure": "(AGAGGG)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "AGAGGG", "Disease": "XDP", "NormalMax": 34, "PathologicMin": 35, "Gene": "TAF1" }, { "LocusId": "VACTERLX_ZIC3", "ReferenceRegion": "chrX:136648985-136649015", "LocusStructure": "(GCN)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCN", "Disease": "VACTERLX", "NormalMax": 10, "PathologicMin": 12, "Gene": "ZIC3" }, { "LocusId": "XLMR_SOX3", "ReferenceRegion": "chrX:139586481-139586526", "LocusStructure": "(NGC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "NGC", "Disease": "XLMR", "NormalMax": 15, "PathologicMin": 22, "Gene": "SOX3" }, { "LocusId": "FXS_FMR1", "ReferenceRegion": "chrX:146993567-146993629", "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:147582124-147582273", "LocusStructure": "(GCC)*", "VariantType": "Repeat", "HGNCId": null, "InheritanceMode": ["XR"], "DisplayRU": "GCC", "Disease": "FRAXE", "NormalMax": 39, "PathologicMin": 201, "Gene": "AFF2" }]