Knowledge base for genomic medicine in Japanese
特発性拡張型心筋症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_002880.4(RAF1):c.1472C>G (p.Thr491Arg)RAF1Likely pathogenic31262724412627244GCcriteria provided, multiple submitters, no conflictsClinGen:CA257064,UniProtKB:P04049#VAR_037819,OMIM:164760.0003
single nucleotide variantNM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)TTNLikely pathogenic2179391848179391848AGcriteria provided, multiple submitters, no conflictsClinGen:CA341209,OMIM:188840.0005
single nucleotide variantNM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)TTNLikely pathogenic2179647707179647707AGcriteria provided, single submitterClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003
single nucleotide variantNM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)TNNC1Likely pathogenic35248530152485301CTcriteria provided, single submitterClinGen:CA122392,OMIM:191040.0001