Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004004.5(GJB2):c.*111C>T | 2706 | GJB2 | Benign | 7329857 | RCV000029941; | N | MedGen:C2673759,OMIM:220290 | 13 | 20762929 | 20762929 | NM_004004.5:c.*111C>T | | NC_000013.10:g.20762929G>A | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.*84T>C | 2706 | GJB2 | Benign | 3751385 | RCV000029940; | N | MedGen:C2673759,OMIM:220290 | 13 | 20762956 | 20762956 | NM_004004.5:c.*84T>C | | NC_000013.10:g.20762956A>G | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) | 2706 | GJB2 | Pathogenic | 111033335 | RCV000037866; RCV000211782; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763121 | 20763129 | NM_004004.5:c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC | NP_003995.2:p.Val198Glnfs | NC_000013.10:g.20763121_20763129delTCCAGACACinsGAATGTCATGAACACTG | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.598G>T (p.Gly200Ter) | 2706 | GJB2 | Likely pathogenic | 786204597 | RCV000169350; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763123 | 20763123 | NM_004004.5:c.598G>T | NP_003995.2:p.Gly200Ter | NC_000013.10:g.20763123C>A | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.598G>A (p.Gly200Arg) | 2706 | GJB2 | Pathogenic | 786204597 | RCV000210857; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763123 | 20763123 | NM_004004.5:c.598G>A | NP_003995.2:p.Gly200Arg | | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.596C>T (p.Ser199Phe) | 2706 | GJB2 | Likely pathogenic | 771748289 | RCV000169613; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763125 | 20763125 | NM_004004.5:c.596C>T | NP_003995.2:p.Ser199Phe | NC_000013.10:g.20763125G>A | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 80338950 | RCV000018531; RCV000211781; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763170 | 20763170 | NM_004004.5:c.551G>C | NP_003995.2:p.Arg184Pro | NC_000013.10:g.20763170C>G,NC_000013.10:g.20763170C>T | OMIM Allelic Variant:121011.0008 | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.508_511dupAACG (p.Ala171Glufs) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 773528125 | RCV000169473; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763210 | 20763213 | NM_004004.5:c.508_511dupAACG | NP_003995.2:p.Ala171Glufs | NC_000013.10:g.20763210_20763213dupCGTT | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.487A>G (p.Met163Val) | 2706 | GJB2 | Pathogenic;Uncertain significance | 80338949 | RCV000020573; RCV000037860; | N | MedGen:C2673759,OMIM:220290; MedGen:CN169374 | 13 | 20763234 | 20763234 | NM_004004.5:c.487A>G | NP_003995.2:p.Met163Val | NC_000013.10:g.20763234T>C | - | C2673759 220290 Deafness, autosomal recessive 1A; CN169374 not specified | | |
NM_004004.5(GJB2):c.476A>T (p.Asp159Val) | 2706 | GJB2 | Pathogenic | 28931592 | RCV000018551; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763245 | 20763245 | NM_004004.5:c.476A>T | NP_003995.2:p.Asp159Val | NC_000013.10:g.20763245T>A | OMIM Allelic Variant:121011.0024 | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.465T>A (p.Tyr155Ter) | 2706 | GJB2 | Pathogenic | 772264564 | RCV000175761; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763256 | 20763256 | NM_004004.5:c.465T>A | NP_003995.2:p.Tyr155Ter | NC_000013.10:g.20763256A>T | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.428G>A (p.Arg143Gln) | 2706 | GJB2 | Pathogenic | 104894401 | RCV000018543; RCV000018542; | N | MedGen:C2673759,OMIM:220290; MedGen:C2675750,OMIM:601544 | 13 | 20763293 | 20763293 | NM_004004.5:c.428G>A | NP_003995.2:p.Arg143Gln | NC_000013.10:g.20763293C>T | OMIM Allelic Variant:121011.0017 | C2675750 601544 Deafness, autosomal dominant 3a; C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.408C>A (p.Tyr136Ter) | 2706 | GJB2 | Likely pathogenic | 786204690 | RCV000169498; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763313 | 20763313 | NM_004004.5:c.408C>A | NP_003995.2:p.Tyr136Ter | NC_000013.10:g.20763313G>T | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.370C>T (p.Gln124Ter) | 2706 | GJB2 | Pathogenic | 397516874 | RCV000037846; RCV000211777; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763351 | 20763351 | NM_004004.5:c.370C>T | NP_003995.2:p.Gln124Ter | NC_000013.10:g.20763351G>A | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.355G>A (p.Glu119Lys) | 2706 | GJB2 | Likely pathogenic | 150529554 | RCV000168672; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763366 | 20763366 | NM_004004.5:c.355G>A | NP_003995.2:p.Glu119Lys | NC_000013.10:g.20763366C>T | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.339T>G (p.Ser113Arg) | 2706 | GJB2 | Pathogenic | 80338946 | RCV000020568; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763382 | 20763382 | NM_004004.5:c.339T>G | NP_003995.2:p.Ser113Arg | NC_000013.10:g.20763382A>C | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.334_335delAA (p.Lys112Glufs) | 2706 | GJB2 | Likely pathogenic | 756484720 | RCV000169446; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763386 | 20763387 | NM_004004.5:c.334_335delAA | NP_003995.2:p.Lys112Glufs | NC_000013.10:g.20763386_20763387delTT | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.312_327del16 (p.Lys105Argfs) | 2706 | GJB2 | Pathogenic | 797045596 | RCV000194203; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763394 | 20763409 | NM_004004.5:c.312_327del16 | NP_003995.2:p.Lys105Argfs | NC_000013.10:g.20763394_20763409del16 | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.299_300delAT (p.His100Argfs) | 2706 | GJB2 | Pathogenic | 111033204 | RCV000037835; RCV000211773; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763421 | 20763422 | NM_004004.5:c.299_300delAT | NP_003995.2:p.His100Argfs | NC_000013.10:g.20763421_20763422delAT | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.290dupA (p.Tyr97Terfs) | 2706 | GJB2 | Likely pathogenic | 786204491 | RCV000169160; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763431 | 20763431 | NM_004004.5:c.290dupA | NP_003995.2:p.Tyr97Terfs | NC_000013.10:g.20763431dupT | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.269dupT (p.Val91Serfs) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 730880338 | RCV000154347; RCV000211771; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763452 | 20763452 | NM_004004.5:c.269dupT | NP_003995.2:p.Val91Serfs | NC_000013.10:g.20763452dupA | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.250G>A (p.Val84Met) | 2706 | GJB2 | Pathogenic | 104894409 | RCV000018564; RCV000211769; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763471 | 20763471 | NM_004004.5:c.250G>A | NP_003995.2:p.Val84Met | NC_000013.10:g.20763471C>A,NC_000013.10:g.20763471C>G,NC_000013.10:g.20763471C>T | OMIM Allelic Variant:121011.0037 | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.250G>T (p.Val84Leu) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 104894409 | RCV000169112; RCV000153314; | N | MedGen:C2673759,OMIM:220290; MedGen:CN221809 | 13 | 20763471 | 20763471 | NM_004004.5:c.250G>T | NP_003995.2:p.Val84Leu | NC_000013.10:g.20763471C>A,NC_000013.10:g.20763471C>G,NC_000013.10:g.20763471C>T | HGMD:CM077558 | C2673759 220290 Deafness, autosomal recessive 1A; CN221809 not provided | | |
NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) | 2706 | GJB2 | Benign | 111033218 | RCV000175768; RCV000037828; | N | MedGen:C2673759,OMIM:220290; MedGen:CN169374 | 13 | 20763472 | 20763472 | NM_004004.5:c.249C>G | NP_003995.2:p.Phe83Leu | NC_000013.10:g.20763472G>C | - | C2673759 220290 Deafness, autosomal recessive 1A; CN169374 not specified | | |
NM_004004.5(GJB2):c.246C>G (p.Ile82Met) | 2706 | GJB2 | Likely pathogenic | 781534323 | RCV000169070; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763475 | 20763475 | NM_004004.5:c.246C>G | NP_003995.2:p.Ile82Met | NC_000013.10:g.20763475G>C | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) | 2706 | GJB2 | Pathogenic | 80338944 | RCV000018524; RCV000211767; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763490 | 20763490 | NM_004004.5:c.231G>A | NP_003995.2:p.Trp77Ter | NC_000013.10:g.20763490C>T | OMIM Allelic Variant:121011.0002 | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.230G>A (p.Trp77Ter) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 104894395 | RCV000169604; RCV000218259; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763491 | 20763491 | NM_004004.5:c.230G>A | NP_003995.2:p.Trp77Ter | NC_000013.10:g.20763491C>T | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.229T>C (p.Trp77Arg) | 2706 | GJB2 | Pathogenic | 104894397 | RCV000018526; RCV000080368; RCV000211765; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884; MedGen:CN221809 | 13 | 20763492 | 20763492 | NM_004004.5:c.229T>C | NP_003995.2:p.Trp77Arg | NC_000013.10:g.20763492A>G | HGMD:CM970682,OMIM Allelic Variant:121011.0004 | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness; CN221809 not provided | | |
NM_004004.5(GJB2):c.224G>A (p.Arg75Gln) | 2706 | GJB2 | Pathogenic | 28931593 | RCV000018554; RCV000210858; RCV000018555; RCV000211764; | N | MedGen:C1835672,OMIM:148350,ORPHA:2202; MedGen:C2673759,OMIM:220290; MedGen:C2675750,OMIM:601544; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763497 | 20763497 | NM_004004.5:c.224G>A | NP_003995.2:p.Arg75Gln | NC_000013.10:g.20763497C>T | OMIM Allelic Variant:121011.0026 | C2675750 601544 Deafness, autosomal dominant 3a; C2673759 220290 Deafness, autosomal recessive 1A; C1835672 148350 Keratoderma palmoplantar deafness; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.208C>G (p.Pro70Ala) | 2706 | GJB2 | Pathogenic | 200023879 | RCV000168671; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763513 | 20763513 | NM_004004.5:c.208C>G | NP_003995.2:p.Pro70Ala | NC_000013.10:g.20763513G>C | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.169C>T (p.Gln57Ter) | 2706 | GJB2 | Pathogenic | 111033297 | RCV000037815; RCV000211761; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763552 | 20763552 | NM_004004.5:c.169C>T | NP_003995.2:p.Gln57Ter | NC_000013.10:g.20763552G>A | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.148G>A (p.Asp50Asn) | 2706 | GJB2 | Pathogenic | 28931594 | RCV000175764; RCV000018546; RCV000018547; | N | MedGen:C1835678,OMIM:148210; MedGen:C1865234,OMIM:602540; MedGen:C2673759,OMIM:220290 | 13 | 20763573 | 20763573 | NM_004004.5:c.148G>A | NP_003995.2:p.Asp50Asn | NC_000013.10:g.20763573C>A,NC_000013.10:g.20763573C>T | OMIM Allelic Variant:121011.0020 | C2673759 220290 Deafness, autosomal recessive 1A; C1865234 602540 Hystrix-like ichthyosis with deafness; C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant | | |
NM_004004.5(GJB2):c.134G>A (p.Gly45Glu) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 72561723 | RCV000022510; RCV000018561; | N | MedGen:C1835678,OMIM:148210; MedGen:C2673759,OMIM:220290 | 13 | 20763587 | 20763587 | NM_004004.5:c.134G>A | NP_003995.2:p.Gly45Glu | NC_000013.10:g.20763587C>T | OMIM Allelic Variant:121011.0033 | C2673759 220290 Deafness, autosomal recessive 1A; C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant | | |
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 104894413 | RCV000169176; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763590 | 20763590 | NM_004004.5:c.131G>A | NP_003995.2:p.Trp44Ter | NC_000013.10:g.20763590C>G,NC_000013.10:g.20763590C>T | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.119C>G (p.Ala40Gly) | 2706 | GJB2 | Likely pathogenic | 111033296 | RCV000169292; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763602 | 20763602 | NM_004004.5:c.119C>G | NP_003995.2:p.Ala40Gly | NC_000013.10:g.20763602G>C,NC_000013.10:g.20763602G>T | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.94C>T (p.Arg32Cys) | 2706 | GJB2 | Likely pathogenic | 371024165 | RCV000169075; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763627 | 20763627 | NM_004004.5:c.94C>T | NP_003995.2:p.Arg32Cys | NC_000013.10:g.20763627G>A | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.79G>A (p.Val27Ile) | 2706 | GJB2 | Benign;Likely benign;Uncertain significance | 2274084 | RCV000029942; RCV000037872; RCV000154452; | N | MedGen:C2673759,OMIM:220290; MedGen:CN169374 | 13 | 20763642 | 20763642 | NM_004004.5:c.79G>A | NP_003995.2:p.Val27Ile | NC_000013.10:g.20763642C>T | HGMD:CM013720 | C2673759 220290 Deafness, autosomal recessive 1A; CN169374 not specified | | |
NM_004004.5(GJB2):c.79G>A (p.Val27Ile) | 2706 | GJB2 | Benign;Likely benign;Uncertain significance | 2274084 | RCV000029942; RCV000037872; RCV000154452; | N | MedGen:C2673759,OMIM:220290; MedGen:CN169374 | 13 | 20763642 | 20763642 | NM_004004.5:c.79G>A | NP_003995.2:p.Val27Ile | NC_000013.10:g.20763642C>T | HGMD:CM013720 | C2673759 220290 Deafness, autosomal recessive 1A; CN169374 not specified | | |
NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) | 2706 | GJB2 | Pathogenic | 80338941 | RCV000020575; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763665 | 20763665 | NM_004004.5:c.56G>C | NP_003995.2:p.Ser19Thr | NC_000013.10:g.20763665C>G | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.44A>C (p.Lys15Thr) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 111033217 | RCV000037855; RCV000211780; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763677 | 20763677 | NM_004004.5:c.44A>C | NP_003995.2:p.Lys15Thr | NC_000013.10:g.20763677T>G | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.35dupG (p.Val13Cysfs) | 2706 | GJB2 | Likely pathogenic;Pathogenic | 398123814 | RCV000169169; RCV000080374; | N | MedGen:C2673759,OMIM:220290; MedGen:CN221809 | 13 | 20763686 | 20763686 | NM_004004.5:c.35dupG | NP_003995.2:p.Val13Cysfs | NC_000013.10:g.20763686dupC | HGMD:CI983105 | C2673759 220290 Deafness, autosomal recessive 1A; CN221809 not provided | | |
NM_004004.5(GJB2):c.24G>A (p.Thr8=) | 2706 | GJB2 | Uncertain significance | 533231493 | RCV000172829; | N | MedGen:C2673759,OMIM:220290 | 13 | 20763697 | 20763697 | NM_004004.5:c.24G>A | NP_003995.2:p.Thr8= | NC_000013.10:g.20763697C>T | - | C2673759 220290 Deafness, autosomal recessive 1A | | |
NM_004004.5(GJB2):c.19C>T (p.Gln7Ter) | 2706 | GJB2 | Likely pathogenic | 111033451 | RCV000037820; RCV000211718; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20763702 | 20763702 | NM_004004.5:c.19C>T | NP_003995.2:p.Gln7Ter | NC_000013.10:g.20763702G>A | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |
NM_004004.5(GJB2):c.1A>G (p.Met1Val) | 2706 | GJB2 | Likely pathogenic;Pathogenic;Uncertain significance | 111033293 | RCV000037821; RCV000211762; RCV000168669; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884; MedGen:CN169374 | 13 | 20763720 | 20763720 | NM_004004.5:c.1A>G | NP_003995.2:p.Met1Val | NC_000013.10:g.20763720T>C | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness; CN169374 not specified | | |
NM_004004.5(GJB2):c.-23G>T | 2706 | GJB2 | Likely pathogenic | 786204734 | RCV000169581; RCV000220459; | N | MedGen:C2673759,OMIM:220290; MedGen:CN043648, Orphanet:ORPHA87884 | 13 | 20766922 | 20766922 | NM_004004.5:c.-23G>T | | NC_000013.10:g.20766922C>A | - | C2673759 220290 Deafness, autosomal recessive 1A; CN043648 Non-syndromic genetic deafness | | |