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)
DuplicationNM_003373.4(VCL):c.670dup (p.Glu224fs)VCLLikely pathogenic107583454775834548AAGcriteria provided, single submitterClinGen:CA10576823
single nucleotide variantNM_014000.3(VCL):c.1531G>T (p.Asp511Tyr)VCLLikely pathogenic107585420775854207GTcriteria provided, single submitterClinGen:CA279267
single nucleotide variantNM_014000.3(VCL):c.1762C>T (p.Gln588Ter)VCLLikely pathogenic107585698075856980CTcriteria provided, single submitterClinGen:CA273521
single nucleotide variantNM_014000.3(VCL):c.1544-2A>GVCLLikely pathogenic107585541275855412AGcriteria provided, single submitterClinGen:CA273292
single nucleotide variantNM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter)TTNLikely pathogenic2179429909179429909CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)TTNLikely pathogenic2179428334179428334GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)TTNLikely pathogenic2179396395179396395GAcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.56347+1G>ATTNLikely pathogenic2179464280179464280CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.56648-1G>ATTNLikely pathogenic2179463790179463790CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.55121-1G>ATTNLikely pathogenic2179466878179466878CTcriteria provided, single submitter-