Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001111125.2(IQSEC2):c.3116-3_3116-2delCA | 23096 | IQSEC2 | Pathogenic | 797045140 | RCV000190894; | N | Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530 | X | 53267490 | 53267491 | NM_001111125.2:c.3116-3_3116-2delCA | | NC_000023.10:g.53267490_53267491delTG | - | C2931498 309530 Mental retardation, X-linked 1; C2931498 300551 Mental retardation, X-linked 1 | | |
NM_001243197.1(IQSEC2):c.123-2226_*20117dup | 23096 | IQSEC2 | Pathogenic | -1 | RCV000114356; | N | Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530 | X | 53276030 | 53298472 | - | - | | OMIM Allelic Variant:300522.0006,dbVar:nssv3761604,dbVar:nsv1067909 | C2931498 309530 Mental retardation, X-linked 1; C2931498 300551 Mental retardation, X-linked 1 | | |
NM_001111125.2(IQSEC2):c.2587C>T (p.Arg863Trp) | 23096 | IQSEC2 | Pathogenic;Uncertain significance | 267607186 | RCV000011609; RCV000180207; | N | Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530; MedGen:CN221809 | X | 53276313 | 53276313 | NM_001111125.2:c.2587C>T | NP_001104595.1:p.Arg863Trp | NC_000023.10:g.53276313G>A | OMIM Allelic Variant:300522.0001 | C2931498 300551 Mental retardation, X-linked 1; C2931498 309530 Mental retardation, X-linked 1; CN221809 not provided | | |
NM_001111125.2(IQSEC2):c.2563C>T (p.Arg855Ter) | 23096 | IQSEC2 | Pathogenic | 587777261 | RCV000114357; | N | Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530 | X | 53277315 | 53277315 | NM_001111125.2:c.2563C>T | NP_001104595.1:p.Arg855Ter | X:g.53277315G>A | OMIM Allelic Variant:300522.0007 | C2931498 300551 Mental retardation, X-linked 1; C2931498 309530 Mental retardation, X-linked 1 | | |
NM_001111125.2(IQSEC2):c.2366C>T (p.Ala789Val) | 23096 | IQSEC2 | Pathogenic | 875989799 | RCV000211090; | N | Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530 | X | 53277996 | 53277996 | NM_001111125.2:c.2366C>T | NP_001104595.1:p.Ala789Val | NC_000023.10:g.53277996G>A | OMIM Allelic Variant:300522.0008 | C2931498 300551 Mental retardation, X-linked 1; C2931498 309530 Mental retardation, X-linked 1 | | |
NM_001111125.2(IQSEC2):c.2273G>A (p.Arg758Gln) | 23096 | IQSEC2 | Pathogenic | 267607189 | RCV000011611; | N | Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530 | X | 53279485 | 53279485 | NM_001111125.2:c.2273G>A | NP_001104595.1:p.Arg758Gln | NC_000023.10:g.53279485C>T | OMIM Allelic Variant:300522.0003 | C2931498 300551 Mental retardation, X-linked 1; C2931498 309530 Mental retardation, X-linked 1 | | |
NG_021296.1:g.30239_72010dup41772 | 23096 | IQSEC2 | Pathogenic | -1 | RCV000114355; | N | Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530 | X | 53283513 | 53325284 | - | - | | OMIM Allelic Variant:300522.0005,dbVar:nssv3761580,dbVar:nsv1067908 | C2931498 309530 Mental retardation, X-linked 1; C2931498 300551 Mental retardation, X-linked 1 | | |
NM_001111125.2(IQSEC2):c.1075C>T (p.Arg359Cys) | 23096 | IQSEC2 | Pathogenic | 267607188 | RCV000011612; | N | Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530 | X | 53284038 | 53284038 | NM_001111125.2:c.1075C>T | NP_001104595.1:p.Arg359Cys | NC_000023.10:g.53284038G>A | OMIM Allelic Variant:300522.0004 | C2931498 309530 Mental retardation, X-linked 1; C2931498 300551 Mental retardation, X-linked 1 | | |