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.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.148G>T (p.Asp50Tyr) | 2706 | GJB2 | Pathogenic | 28931594 | RCV000018556; | N | MedGen:C1835678,OMIM:148210 | 13 | 20763573 | 20763573 | NM_004004.5:c.148G>T | NP_003995.2:p.Asp50Tyr | NC_000013.10:g.20763573C>A,NC_000013.10:g.20763573C>T | OMIM Allelic Variant:121011.0027 | 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.50C>T (p.Ser17Phe) | 2706 | GJB2 | Pathogenic | 28929485 | RCV000018549; | N | MedGen:C1835678,OMIM:148210 | 13 | 20763671 | 20763671 | NM_004004.5:c.50C>T | NP_003995.2:p.Ser17Phe | NC_000013.10:g.20763671G>A,NC_000013.10:g.20763671G>C | OMIM Allelic Variant:121011.0022 | C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant | | |
NM_004004.5(GJB2):c.34G>C (p.Gly12Arg) | 2706 | GJB2 | Pathogenic | 104894408 | RCV000018548; | N | MedGen:C1835678,OMIM:148210 | 13 | 20763687 | 20763687 | NM_004004.5:c.34G>C | NP_003995.2:p.Gly12Arg | NC_000013.10:g.20763687C>A,NC_000013.10:g.20763687C>G | OMIM Allelic Variant:121011.0021 | C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant | | |