Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | m.7445A>G | -1 | - | Pathogenic | 199474818 | RCV000010176; RCV000010177; | Y | MedGen:C1835672,OMIM:148350,ORPHA:2202; MedGen:C3151897,OMIM:500008 | M | 7445 | 7445 | - | - | NC_012920.1:m.7445A>G | OMIM Allelic Variant:590080.0002 | C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial; C1835672 148350 Keratoderma palmoplantar deafness | | |
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.218A>G (p.His73Arg) | 2706 | GJB2 | Pathogenic | 121912968 | RCV000018565; | N | MedGen:C1835672,OMIM:148350,ORPHA:2202 | 13 | 20763503 | 20763503 | NM_004004.5:c.218A>G | NP_003995.2:p.His73Arg | NC_000013.10:g.20763503T>C | OMIM Allelic Variant:121011.0038 | C1835672 148350 Keratoderma palmoplantar deafness | | |
NM_004004.5(GJB2):c.176G>C (p.Gly59Ala) | 2706 | GJB2 | Pathogenic | 104894404 | RCV000018540; | N | MedGen:C1835672,OMIM:148350,ORPHA:2202 | 13 | 20763545 | 20763545 | NM_004004.5:c.176G>C | NP_003995.2:p.Gly59Ala | NC_000013.10:g.20763545C>G,NC_000013.10:g.20763545C>T | OMIM Allelic Variant:121011.0015 | C1835672 148350 Keratoderma palmoplantar deafness | | |