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_014000.3(VCL):c.1544-2A>GVCLLikely pathogenic107585541275855412AGcriteria provided, single submitterClinGen:CA273292
single nucleotide variantNM_014000.3(VCL):c.1762C>T (p.Gln588Ter)VCLLikely pathogenic107585698075856980CTcriteria provided, single submitterClinGen:CA273521
single nucleotide variantNM_014000.3(VCL):c.1531G>T (p.Asp511Tyr)VCLLikely pathogenic107585420775854207GTcriteria provided, single submitterClinGen:CA279267
DuplicationNM_003373.4(VCL):c.670dup (p.Glu224fs)VCLLikely pathogenic107583454775834548AAGcriteria provided, single submitterClinGen:CA10576823