Knowledge base for genomic medicine in Japanese
遺伝性難聴
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_004004.6(GJB2):c.119C>A (p.Ala40Glu)GJB2Likely pathogenic132076360220763602GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004004.6(GJB2):c.169C>T (p.Gln57Ter)GJB2Pathogenic132076355220763552GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004004.6(GJB2):c.19C>T (p.Gln7Ter)GJB2Pathogenic/Likely pathogenic132076370220763702GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004004.6(GJB2):c.1A>G (p.Met1Val)GJB2Pathogenic132076372020763720TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004004.6(GJB2):c.279G>A (p.Met93Ile)GJB2Likely pathogenic132076344220763442CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P29033#VAR_023609
single nucleotide variantNM_004004.6(GJB2):c.283G>A (p.Val95Met)GJB2Pathogenic/Likely pathogenic132076343820763438CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P29033#VAR_002144
deletionNM_004004.6(GJB2):c.299_300del (p.His100fs)GJB2Pathogenic132076342120763422CATCcriteria provided, multiple submitters, no conflicts-
deletionNM_004004.6(GJB2):c.313_326del (p.Lys105fs)GJB2Pathogenic132076339520763408CCCCTTGATGAACTTCcriteria provided, multiple submitters, no conflictsHGMD:CD991732,OMIM Allelic Variant:121011.0034
deletionNM_004004.6(GJB2):c.31_68del (p.Gly11fs)GJB2Pathogenic/Likely pathogenic132076365320763690GATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004004.6(GJB2):c.34G>T (p.Gly12Cys)GJB2Likely pathogenic132076368720763687CAreviewed by expert panelHGMD:CM042706