Knowledge base for genomic medicine in Japanese
筋原線維性ミオパチー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)BAG3Pathogenic/Likely pathogenic10121436429121436429GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):O95817#VAR_066785
single nucleotide variantNM_001267550.2(TTN):c.15496+1G>ATTNPathogenic/Likely pathogenic2179599054179599054CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_133379.5(TTN):c.3034C>T (p.Arg1012Ter)TTNLikely pathogenic2179647599179647599GAcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.44364del (p.Tyr14789fs)TTNLikely pathogenic2179494088179494088AGAcriteria provided, single submitter-
deletionNM_001267550.2(TTN):c.46069_46070del (p.Met15357fs)TTNLikely pathogenic2179485178179485179CATCcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)TTNLikely pathogenic2179483504179483504ATcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)TTNLikely pathogenic2179483495179483495GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)TTNLikely pathogenic2179482572179482572GAcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)TTNLikely pathogenic2179476338179476338CTcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.56647+1G>ATTNLikely pathogenic2179463872179463872CTcriteria provided, multiple submitters, no conflicts-