Knowledge base for genomic medicine in Japanese
網膜色素変性症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)USH2APathogenic1215848385215848385GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)USH2APathogenic/Likely pathogenic1215848123215848123GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)USH2APathogenic/Likely pathogenic1215847940215847940CTcriteria provided, multiple submitters, no conflicts-
duplicationNM_206933.4(USH2A):c.14031dup (p.Ala4678fs)USH2APathogenic1215844415215844416CCTcriteria provided, single submitter-
single nucleotide variantNM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)USH2APathogenic/Likely pathogenic1215824097215824097CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)USH2APathogenic/Likely pathogenic1215823990215823990CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):O75445#VAR_072052
single nucleotide variantNM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)USH2APathogenic1215813957215813957GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)USH2APathogenic1216495263216495263AGcriteria provided, multiple submitters, no conflictsUniProtKB (protein):O75445#VAR_025769
single nucleotide variantNM_206933.4(USH2A):c.1841-2A>GUSH2APathogenic1216462754216462754TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.3158-6A>GUSH2ALikely pathogenic1216380779216380779TCcriteria provided, single submitter-