/
variant_catalog_without_offtargets.GRCh38.json
1820 lines (1820 loc) · 53.8 KB
/
variant_catalog_without_offtargets.GRCh38.json
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[
{
"LocusId": "ABCD3",
"ReferenceRegion": "chr1:94418421-94418442",
"LocusStructure": "(GCC)*",
"VariantType": "Repeat",
"RepeatUnit": "GCC",
"Gene": "ABCD3",
"GeneRegion": "5'-UTR",
"GeneId": "ENSG00000117528",
"DiscoveryMethod": "WGS",
"DiscoveryYear": 2023,
"Diseases": [
{
"Symbol": "OPDM",
"Name": "Oculopharyngodistal myopathy (OPDM)",
"Inheritance": "AD",
"PathogenicMin": 118
}
],
"MainReferenceRegion": "chr1:94418421-94418442",
"Inheritance": "AD"
},
{
"LocusId": "AFF2",
"LocusStructure": "(GCC)*",
"ReferenceRegion": "chrX:148500631-148500691",
"RepeatUnit": "GCC",
"VariantType": "Repeat",
"Gene": "AFF2",
"GeneRegion": "5'-UTR",
"GeneId": "ENSG00000155966",
"DiscoveryMethod": "K, L",
"DiscoveryYear": 1993,
"Diseases": [
{
"Symbol": "FRAXE",
"Name": "FRAXE mental retardation",
"Inheritance": "XR",
"OMIM": "309548",
"NormalMax": 25,
"PathogenicMin": 200
}
],
"MainReferenceRegion": "chrX:148500631-148500691",
"Inheritance": "XR"
},
{
"LocusId": "AFF3",
"LocusStructure": "(GCC)*",
"ReferenceRegion": "chr2:100104798-100104822",
"RepeatUnit": "GCC",
"VariantType": "Repeat",
"Gene": "AFF3",
"GeneRegion": "intron",
"GeneId": "ENSG00000144218",
"Diseases": [],
"MainReferenceRegion": "chr2:100104798-100104822"
},
{
"LocusId": "AR",
"LocusStructure": "(GCA)*",
"ReferenceRegion": "chrX:67545316-67545385",
"RepeatUnit": "GCA",
"VariantType": "Repeat",
"Gene": "AR",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000169083",
"DiscoveryMethod": "L, CGA",
"DiscoveryYear": 1991,
"Diseases": [
{
"Symbol": "SBMA",
"Name": "Spinal and bulbar muscular atrophy",
"Inheritance": "XR",
"OMIM": "313200",
"NormalMax": 35,
"PathogenicMin": 40
}
],
"MainReferenceRegion": "chrX:67545316-67545385",
"Inheritance": "XR"
},
{
"LocusId": "ARX_1",
"LocusStructure": "(NGC)*",
"VariantType": "Repeat",
"ReferenceRegion": "chrX:25013649-25013697",
"RepeatUnit": "NGC",
"Gene": "ARX",
"GeneRegion": "coding: polyalanine",
"GeneId": "ENSG00000004848",
"Diseases": [
{
"Symbol": "DEE1",
"Name": "Developmental and epileptic encephalopathy-1",
"Inheritance": "XR",
"OMIM": "308350",
"NormalMax": 16,
"PathogenicMin": 23
},
{
"Symbol": "MRXARX",
"Name": "X-linked mental retardation with or without seizures",
"Inheritance": "XR",
"OMIM": "300419",
"NormalMax": 16,
"PathogenicMin": 18
}
],
"MainReferenceRegion": "chrX:25013649-25013697",
"Inheritance": "XR"
},
{
"LocusId": "ARX_2",
"LocusStructure": "(NGC)*",
"VariantType": "Repeat",
"ReferenceRegion": "chrX:25013529-25013565",
"RepeatUnit": "NGC",
"Gene": "ARX",
"GeneRegion": "coding: polyalanine",
"GeneId": "ENSG00000004848",
"Diseases": [
{
"Symbol": "DEE1",
"Name": "Developmental and epileptic encephalopathy-1",
"Inheritance": "XR",
"OMIM": "308350",
"NormalMax": 12,
"PathogenicMin": 20
},
{
"Symbol": "PRTS",
"Name": "Partington syndrome",
"Inheritance": "XR",
"OMIM": "309510",
"NormalMax": 12,
"PathogenicMin": 20
},
{
"Symbol": "MRXARX",
"Name": "X-linked mental retardation with or without seizures",
"Inheritance": "XR",
"OMIM": "300419",
"NormalMax": 12,
"PathogenicMin": 23
}
],
"MainReferenceRegion": "chrX:25013529-25013565",
"Inheritance": "XR"
},
{
"LocusId": "ATN1",
"LocusStructure": "(CAG)*",
"ReferenceRegion": "chr12:6936716-6936773",
"RepeatUnit": "CAG",
"VariantType": "Repeat",
"Gene": "ATN1",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000111676",
"DiscoveryMethod": "L, ExScr",
"DiscoveryYear": 1994,
"Diseases": [
{
"Symbol": "DRPLA",
"Name": "Dentatorubral-pallidoluysian atrophy",
"Inheritance": "AD",
"OMIM": "125370",
"NormalMax": 23,
"PathogenicMin": 49
}
],
"MainReferenceRegion": "chr12:6936716-6936773",
"Inheritance": "AD"
},
{
"LocusId": "ATXN1",
"LocusStructure": "(TGC)*",
"ReferenceRegion": "chr6:16327633-16327723",
"RepeatUnit": "TGC",
"VariantType": "Repeat",
"Gene": "ATXN1",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000124788",
"DiscoveryMethod": "L, ExScr",
"DiscoveryYear": 1993,
"Diseases": [
{
"Symbol": "SCA1",
"Name": "Spinocerebellar ataxia 1",
"Inheritance": "AD",
"OMIM": "164400",
"NormalMax": 32,
"PathogenicMin": 39,
"IntermediateRange": "36-38"
}
],
"MainReferenceRegion": "chr6:16327633-16327723",
"Inheritance": "AD"
},
{
"LocusId": "ATXN10",
"LocusStructure": "(ATTCT)*",
"ReferenceRegion": "chr22:45795354-45795424",
"RepeatUnit": "ATTCT",
"VariantType": "Repeat",
"Gene": "ATXN10",
"GeneRegion": "intron",
"GeneId": "ENSG00000130638",
"DiscoveryMethod": "L, ExScr",
"DiscoveryYear": 2000,
"Diseases": [
{
"Symbol": "SCA10",
"Name": "Spinocerebellar ataxia 10",
"Inheritance": "AD",
"OMIM": "603516",
"NormalMax": 29,
"PathogenicMin": 800,
"IntermediateRange": "30-799"
}
],
"MainReferenceRegion": "chr22:45795354-45795424",
"Inheritance": "AD"
},
{
"LocusId": "ATXN2",
"LocusStructure": "(GCT)*",
"ReferenceRegion": "chr12:111598949-111599018",
"RepeatUnit": "GCT",
"VariantType": "Repeat",
"Gene": "ATXN2",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000204842",
"DiscoveryMethod": "L, cl",
"DiscoveryYear": 1996,
"Diseases": [
{
"Symbol": "SCA2",
"Name": "Spinocerebellar ataxia 2",
"Inheritance": "AD",
"OMIM": "183090",
"NormalMax": 31,
"PathogenicMin": 35,
"IntermediateRange": "32-34"
}
],
"MainReferenceRegion": "chr12:111598949-111599018",
"Inheritance": "AD"
},
{
"LocusId": "ATXN3",
"LocusStructure": "(CTG)*",
"ReferenceRegion": "chr14:92071010-92071040",
"RepeatUnit": "CTG",
"VariantType": "Repeat",
"Gene": "ATXN3",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000066427",
"DiscoveryMethod": "L, cl",
"DiscoveryYear": 1994,
"Diseases": [
{
"Symbol": "SCA3",
"Name": "Spinocerebellar ataxia 3",
"Inheritance": "AD",
"OMIM": "109150",
"NormalMax": 44,
"PathogenicMin": 56,
"IntermediateRange": "45-55"
}
],
"MainReferenceRegion": "chr14:92071010-92071040",
"Inheritance": "AD"
},
{
"LocusId": "ATXN7",
"LocusStructure": "(GCA)*(GCC)+",
"ReferenceRegion": [
"chr3:63912684-63912714",
"chr3:63912714-63912726"
],
"RepeatUnit": "GCA",
"VariantId": [
"ATXN7",
"ATXN7_GCC"
],
"VariantType": [
"Repeat",
"Repeat"
],
"Gene": "ATXN7",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000163635",
"DiscoveryMethod": "L, cl",
"DiscoveryYear": 1996,
"Diseases": [
{
"Symbol": "SCA7",
"Name": "Spinocerebellar ataxia 7",
"Inheritance": "AD",
"OMIM": "164500",
"NormalMax": 33,
"PathogenicMin": 37,
"IntermediateRange": "34-36"
}
],
"MainReferenceRegion": "chr3:63912684-63912714",
"Inheritance": "AD"
},
{
"LocusId": "ATXN8OS",
"LocusStructure": "(CTA)*(CTG)*",
"ReferenceRegion": [
"chr13:70139353-70139383",
"chr13:70139383-70139428"
],
"RepeatUnit": "CTG",
"VariantId": [
"ATXN8OS_CTA",
"ATXN8OS"
],
"VariantType": [
"Repeat",
"Repeat"
],
"Gene": "ATXN8",
"GeneRegion": "3'-UTR",
"GeneId": "ENSG00000230223",
"DiscoveryMethod": "L, cl",
"DiscoveryYear": 1999,
"Diseases": [
{
"Symbol": "SCA8",
"Name": "Spinocerebellar ataxia 8",
"Inheritance": "AD",
"OMIM": "608768",
"NormalMax": 37,
"PathogenicMin": 80,
"IntermediateRange": "38-79"
}
],
"MainReferenceRegion": "chr13:70139383-70139428",
"Inheritance": "AD"
},
{
"LocusId": "BCLAF3",
"LocusStructure": "(CCG)*",
"ReferenceRegion": "chrX:19990922-19990973",
"RepeatUnit": "CCG",
"VariantType": "Repeat",
"Gene": "BCLAF3",
"GeneRegion": "5'-UTR",
"GeneId": "ENST00000379682",
"Diseases": [],
"MainReferenceRegion": "chrX:19990922-19990973"
},
{
"LocusId": "BEAN1",
"LocusStructure": "(TAAAA)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr16:66490398-66490453",
"RepeatUnit": "TAAAA",
"Gene": "BEAN1",
"GeneRegion": "intron",
"GeneId": "ENSG00000166546",
"DiscoveryMethod": "L",
"DiscoveryYear": 2009,
"Diseases": [
{
"Symbol": "SCA31",
"Name": "Spinocerebellar ataxia 31",
"Inheritance": "AD",
"OMIM": "117210",
"PathogenicMin": 500
}
],
"MainReferenceRegion": "chr16:66490398-66490453",
"PathogenicMotifs": [
"TAGAA",
"TGGAA"
],
"BenignMotifs": [
"TAAAA"
],
"Inheritance": "AD"
},
{
"LocusId": "C9ORF72",
"LocusStructure": "(GGCCCC)*",
"ReferenceRegion": "chr9:27573528-27573546",
"RepeatUnit": "GGCCCC",
"VariantType": "Repeat",
"Gene": "C9orf72",
"GeneRegion": "intron",
"GeneId": "ENSG00000147894",
"DiscoveryMethod": "L, WGS",
"DiscoveryYear": 2011,
"Diseases": [
{
"Symbol": "FTDALS1",
"Name": "Amyotrophic lateral sclerosis and/or frontotemporal dementia",
"Inheritance": "AD",
"OMIM": "105550",
"NormalMax": 23,
"PathogenicMin": 31
}
],
"MainReferenceRegion": "chr9:27573528-27573546",
"Inheritance": "AD"
},
{
"LocusId": "C11ORF80",
"LocusStructure": "(GGC)*",
"ReferenceRegion": "chr11:66744819-66744843",
"RepeatUnit": "GGC",
"VariantType": "Repeat",
"Gene": "C11orf80",
"GeneRegion": "coding: polyalanine",
"GeneId": "ENSG00000173715",
"Diseases": [],
"MainReferenceRegion": "chr11:66744819-66744843"
},
{
"LocusId": "CACNA1A",
"LocusStructure": "(CTG)*",
"ReferenceRegion": "chr19:13207858-13207897",
"RepeatUnit": "CTG",
"VariantType": "Repeat",
"Gene": "CACNA1A",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000141837",
"DiscoveryMethod": "L, ExScr",
"DiscoveryYear": 1997,
"Diseases": [
{
"Symbol": "SCA6",
"Name": "Spinocerebellar ataxia 6",
"Inheritance": "AD",
"OMIM": "183086",
"NormalMax": 18,
"PathogenicMin": 21,
"IntermediateRange": "19-19"
}
],
"MainReferenceRegion": "chr19:13207858-13207897",
"Inheritance": "AD"
},
{
"LocusId": "CBL",
"LocusStructure": "(CGG)*",
"ReferenceRegion": "chr11:119206289-119206322",
"RepeatUnit": "CGG",
"VariantType": "Repeat",
"Gene": "CBL",
"GeneRegion": "promoter",
"GeneId": "ENSG00000110395",
"Diseases": [],
"MainReferenceRegion": "chr11:119206289-119206322"
},
{
"LocusId": "CNBP",
"LocusStructure": "(CAGG)*(CAGA)*(CA)*",
"ReferenceRegion": [
"chr3:129172576-129172656",
"chr3:129172656-129172696",
"chr3:129172696-129172732"
],
"RepeatUnit": "CAGG",
"VariantId": [
"CNBP",
"CNBP_CAGA",
"CNBP_CA"
],
"VariantType": [
"Repeat",
"Repeat",
"Repeat"
],
"Gene": "CNBP",
"GeneRegion": "intron",
"GeneId": "ENSG00000169714",
"DiscoveryMethod": "L, ExScr",
"DiscoveryYear": 2001,
"Diseases": [
{
"Symbol": "DM2",
"Name": "Myotonic dystrophy 2",
"Inheritance": "AD",
"OMIM": "602668",
"NormalMax": 54,
"PathogenicMin": 55
}
],
"MainReferenceRegion": "chr3:129172576-129172656",
"Inheritance": "AD"
},
{
"LocusId": "COMP",
"LocusStructure": "(GTC)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr19:18786034-18786049",
"RepeatUnit": "GTC",
"Gene": "COMP",
"GeneRegion": "coding: poly-aspartic-acid",
"GeneId": "ENSG00000105664",
"Diseases": [
{
"Symbol": "EDM1",
"Name": "Multiple epiphyseal dysplasia",
"Inheritance": "AD",
"OMIM": "132400",
"PathogenicMin": 6
},
{
"Symbol": "PSACH",
"Name": "Pseudoachondroplasia",
"Inheritance": "AD",
"OMIM": "177170",
"Note": "5 repeats are normal. Contractions to 4 repeats are also pathogenic.",
"PathogenicMin": 7
}
],
"MainReferenceRegion": "chr19:18786034-18786049",
"Inheritance": "AD"
},
{
"LocusId": "CSTB",
"LocusStructure": "(CGCGGGGCGGGG)*",
"ReferenceRegion": "chr21:43776443-43776479",
"RepeatUnit": "CGCGGGGCGGGG",
"VariantType": "Repeat",
"Gene": "CSTB",
"GeneRegion": "promoter",
"GeneId": "ENSG00000160213",
"DiscoveryMethod": "L, cl, exp",
"DiscoveryYear": 1997,
"Diseases": [
{
"Symbol": "EPM1",
"Name": "Epilepsy Progressive Myoclonic",
"Inheritance": "AR",
"OMIM": "254800",
"PathogenicMin": 30
}
],
"MainReferenceRegion": "chr21:43776443-43776479",
"Inheritance": "AR"
},
{
"LocusId": "CSNK1E",
"LocusStructure": "(GCC)*",
"ReferenceRegion": "chr22:38317282-38317306",
"RepeatUnit": "GCC",
"VariantType": "Repeat",
"Gene": "CSNK1E",
"GeneRegion": "5'-UTR",
"GeneId": "ENST00000396832",
"Diseases": [],
"MainReferenceRegion": "chr22:38317282-38317306"
},
{
"LocusId": "DAB1",
"LocusStructure": "(AAAAT)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr1:57367043-57367118",
"RepeatUnit": "AAAAT",
"Gene": "DAB1",
"GeneRegion": "intron",
"GeneId": "ENSG00000173406",
"DiscoveryMethod": "L, ExScr",
"DiscoveryYear": 2017,
"Diseases": [
{
"Symbol": "SCA37",
"Name": "Spinocerebellar ataxia 37",
"Inheritance": "AD",
"OMIM": "615945",
"PathogenicMin": 31
}
],
"MainReferenceRegion": "chr1:57367043-57367118",
"PathogenicMotifs": [
"GAAAT"
],
"BenignMotifs": [
"AAAAT"
],
"Inheritance": "AD"
},
{
"LocusId": "DIP2B",
"LocusStructure": "(GGC)*",
"ReferenceRegion": "chr12:50505001-50505022",
"RepeatUnit": "GGC",
"VariantType": "Repeat",
"Gene": "DIP2B",
"GeneRegion": "5'-UTR",
"GeneId": "ENSG00000066084",
"Diseases": [
{
"Symbol": "MRFRA12A",
"Name": "Mental retardation, FRA12A type",
"Inheritance": "AD",
"OMIM": "136630",
"NormalMax": 23,
"PathogenicMin": 350
}
],
"MainReferenceRegion": "chr12:50505001-50505022",
"Inheritance": "AD"
},
{
"LocusId": "DMD",
"LocusStructure": "(TTC)*",
"VariantType": "Repeat",
"ReferenceRegion": "chrX:31284557-31284605",
"RepeatUnit": "TTC",
"Gene": "DMD",
"GeneRegion": "intron",
"GeneId": "ENSG00000198947",
"Diseases": [],
"MainReferenceRegion": "chrX:31284557-31284605"
},
{
"LocusId": "DMPK",
"LocusStructure": "(CAG)*",
"ReferenceRegion": "chr19:45770204-45770264",
"RepeatUnit": "CAG",
"VariantType": "Repeat",
"Gene": "DMPK",
"GeneRegion": "3'-UTR",
"GeneId": "ENSG00000104936",
"DiscoveryMethod": "L, cl",
"DiscoveryYear": 1992,
"Diseases": [
{
"Symbol": "DM1",
"Name": "Myotonic dystrophy 1",
"Inheritance": "AD",
"OMIM": "160900",
"NormalMax": 34,
"PathogenicMin": 50,
"IntermediateRange": "35-49"
}
],
"MainReferenceRegion": "chr19:45770204-45770264",
"Inheritance": "AD"
},
{
"LocusId": "EIF4A3",
"LocusStructure": "(CCTCGCTGTGCCGCTGCCGA)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr17:80147059-80147139",
"RepeatUnit": "CCTCGCTGTGCCGCTGCCGA",
"Gene": "EIF4A3",
"GeneRegion": "5'-UTR",
"GeneId": "ENSG00000141543",
"Diseases": [
{
"Symbol": "RCPS",
"Name": "Richieri-Costa-Pereira syndrome",
"Inheritance": "AR",
"OMIM": "268305",
"NormalMax": 11,
"PathogenicMin": 14
}
],
"MainReferenceRegion": "chr17:80147059-80147139",
"Inheritance": "AR"
},
{
"LocusId": "FGF14",
"LocusStructure": "(AAG)*",
"VariantType": "RareRepeat",
"ReferenceRegion": "chr13:102161574-102161724",
"RepeatUnit": "AAG",
"Gene": "FGF14",
"GeneRegion": "intron",
"GeneId": "ENSG00000102466",
"Diseases": [
{
"Symbol": "SCA27B",
"Name": "Spinocerebellar ataxia 27B",
"Inheritance": "AD",
"OMIM": "620174",
"PathogenicMin": 335,
"IntermediateRange": "250-335",
"NormalMax": 250
}
],
"MainReferenceRegion": "chr13:102161574-102161724",
"VariantId": "FGF14",
"Inheritance": "AD"
},
{
"LocusId": "FMR1",
"LocusStructure": "(CGG)*",
"ReferenceRegion": "chrX:147912050-147912110",
"RepeatUnit": "CGG",
"VariantType": "Repeat",
"Gene": "FMR1",
"GeneRegion": "5'-UTR",
"GeneId": "ENSG00000102081",
"DiscoveryMethod": "K, FS, L, Me, cl",
"DiscoveryYear": 1991,
"Diseases": [
{
"Symbol": "FXTAS",
"Name": "Fragile X tremor/ataxia syndrome",
"Inheritance": "XD",
"OMIM": "300623",
"NormalMax": 40,
"PathogenicMin": 55,
"IntermediateRange": "41-54"
},
{
"Symbol": "FXS",
"Name": "Fragile X Syndrome",
"Inheritance": "XD",
"OMIM": "300624",
"NormalMax": 40,
"PathogenicMin": 201,
"IntermediateRange": "41-54"
}
],
"MainReferenceRegion": "chrX:147912050-147912110",
"Inheritance": "XD"
},
{
"LocusId": "FOXL2",
"LocusStructure": "(NGC)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr3:138946020-138946062",
"RepeatUnit": "NGC",
"Gene": "FOXL2",
"GeneRegion": "coding: polyalanine",
"GeneId": "ENSG00000183770",
"DiscoveryMethod": "L, CGA",
"DiscoveryYear": 2001,
"Diseases": [
{
"Symbol": "BPES",
"Name": "Blepharophimosis, ptosis, and epicanthus inversus syndrome",
"Inheritance": "AD",
"OMIM": "110100",
"NormalMax": 14,
"PathogenicMin": 19
}
],
"MainReferenceRegion": "chr3:138946020-138946062",
"Inheritance": "AD"
},
{
"LocusId": "FRA10AC1",
"LocusStructure": "(CCA)*(CCG)*",
"ReferenceRegion": [
"chr10:93702516-93702522",
"chr10:93702522-93702546"
],
"RepeatUnit": "CCG",
"VariantType": [
"Repeat",
"Repeat"
],
"Gene": "FRA10AC1",
"GeneRegion": "5'-UTR",
"GeneId": "ENSG00000148690",
"Diseases": [],
"MainReferenceRegion": "chr10:93702522-93702546",
"VariantId": [
"FRA10AC1_CCA",
"FRA10AC1"
]
},
{
"LocusId": "FXN",
"LocusStructure": "(A)*(GAA)*",
"ReferenceRegion": [
"chr9:69037261-69037286",
"chr9:69037286-69037304"
],
"RepeatUnit": "GAA",
"VariantId": [
"FXN_A",
"FXN"
],
"VariantType": [
"Repeat",
"Repeat"
],
"Gene": "FXN",
"GeneRegion": "intron",
"GeneId": "ENSG00000165060",
"DiscoveryMethod": "L, ExScr",
"DiscoveryYear": 1996,
"Diseases": [
{
"Symbol": "FRDA",
"Name": "Friedreich ataxia",
"Inheritance": "AR",
"OMIM": "229300",
"NormalMax": 30,
"PathogenicMin": 66
}
],
"MainReferenceRegion": "chr9:69037286-69037304",
"Inheritance": "AR"
},
{
"LocusId": "GIPC1",
"LocusStructure": "(CCG)*",
"ReferenceRegion": "chr19:14496041-14496074",
"RepeatUnit": "CCG",
"VariantType": "Repeat",
"Gene": "GIPC1",
"GeneRegion": "5'-UTR",
"GeneId": "ENSG00000123159",
"DiscoveryMethod": "L, WGS, LRS",
"DiscoveryYear": 2020,
"Diseases": [
{
"Symbol": "OPDM2",
"Name": "Oculopharyngodistal myopathy 2",
"Inheritance": "AD",
"OMIM": "618940",
"NormalMax": 32,
"PathogenicMin": 73
}
],
"MainReferenceRegion": "chr19:14496041-14496074",
"Inheritance": "AD"
},
{
"LocusId": "GLS",
"LocusStructure": "(GCA)*",
"ReferenceRegion": "chr2:190880872-190880920",
"RepeatUnit": "GCA",
"VariantType": "Repeat",
"Gene": "GLS",
"GeneRegion": "5'-UTR",
"GeneId": "ENSG00000115419",
"DiscoveryMethod": "CGA",
"DiscoveryYear": 2019,
"Diseases": [
{
"Symbol": "GD",
"Name": "Glutaminase deficiency with impaired intellectual development and progressive ataxia",
"Inheritance": "AR",
"OMIM": "618412",
"NormalMax": 26,
"PathogenicMin": 680
}
],
"MainReferenceRegion": "chr2:190880872-190880920",
"Inheritance": "AR"
},
{
"LocusId": "HOXA13_1",
"LocusStructure": "(NGC)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr7:27199924-27199966",
"RepeatUnit": "NGC",
"Gene": "HOXA13",
"GeneRegion": "coding: polyalanine",
"GeneId": "ENSG00000106031",
"DiscoveryMethod": "L, CGA",
"DiscoveryYear": 2000,
"Diseases": [
{
"Symbol": "HFG",
"Name": "Hand-foot-genital syndrome",
"Inheritance": "AD",
"OMIM": "140000",
"NormalMax": 14,
"PathogenicMin": 22
}
],
"MainReferenceRegion": "chr7:27199924-27199966",
"Inheritance": "AD"
},
{
"LocusId": "HOXA13_2",
"LocusStructure": "(NGC)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr7:27199825-27199861",
"RepeatUnit": "NGC",
"Gene": "HOXA13",
"GeneRegion": "coding: polyalanine",
"GeneId": "ENSG00000106031",
"DiscoveryMethod": "L, CGA",
"DiscoveryYear": 2000,
"Diseases": [
{
"Symbol": "HFG",
"Name": "Hand-foot-genital syndrome",
"Inheritance": "AD",
"OMIM": "140000",
"NormalMax": 12,
"PathogenicMin": 18
}
],
"MainReferenceRegion": "chr7:27199825-27199861",
"Inheritance": "AD"
},
{
"LocusId": "HOXA13_3",
"LocusStructure": "(NGC)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr7:27199678-27199732",
"RepeatUnit": "NGC",
"Gene": "HOXA13",
"GeneRegion": "coding: polyalanine",
"GeneId": "ENSG00000106031",
"DiscoveryMethod": "L, CGA",
"DiscoveryYear": 2000,
"Diseases": [
{
"Symbol": "HFG",
"Name": "Hand-foot-genital syndrome",
"Inheritance": "AD",
"OMIM": "140000",
"NormalMax": 18,
"PathogenicMin": 24
}
],
"MainReferenceRegion": "chr7:27199678-27199732",
"Inheritance": "AD"
},
{
"LocusId": "HOXD13",
"LocusStructure": "(GCG)*",
"VariantType": "Repeat",
"ReferenceRegion": "chr2:176093058-176093103",
"RepeatUnit": "GCG",
"Gene": "HOXD13",
"GeneRegion": "coding: polyalanine",
"GeneId": "ENSG00000128714",
"DiscoveryMethod": "L, CGA",
"DiscoveryYear": 1996,
"Diseases": [
{
"Symbol": "SPD",
"Name": "Synpolydactyly",
"Inheritance": "AD",
"OMIM": "186300",
"NormalMax": 15,
"PathogenicMin": 22
}
],
"MainReferenceRegion": "chr2:176093058-176093103",
"Inheritance": "AD"
},
{
"LocusId": "HTT",
"LocusStructure": "(CAG)*CAACAG(CCG)*",
"ReferenceRegion": [
"chr4:3074876-3074933",
"chr4:3074939-3074966"
],
"RepeatUnit": "CAG",
"VariantId": [
"HTT",
"HTT_CCG"
],
"VariantType": [
"Repeat",
"Repeat"
],
"Gene": "HTT",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000197386",
"DiscoveryMethod": "L, ExScr",
"DiscoveryYear": 1993,
"Diseases": [
{
"Symbol": "HD",
"Name": "Huntington's disease",
"Inheritance": "AD",
"OMIM": "143100",
"NormalMax": 26,
"PathogenicMin": 36,
"IntermediateRange": "27-35"
}
],
"MainReferenceRegion": "chr4:3074876-3074933",
"Inheritance": "AD"
},
{
"LocusId": "JPH3",
"LocusStructure": "(CTG)*",
"ReferenceRegion": "chr16:87604287-87604329",
"RepeatUnit": "CTG",
"VariantType": "Repeat",
"Gene": "JPH3",
"GeneRegion": "coding: polyglutamine",
"GeneId": "ENSG00000154118",
"DiscoveryMethod": "L, RED",
"DiscoveryYear": 2001,
"Diseases": [