Knowledge base for genomic medicine in Japanese
特発性拡張型心筋症
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
short repeatNM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del)PLNPathogenic6118880120118880122TAAGTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:172405.0003
single nucleotide variantNM_001354689.3(RAF1):c.766A>G (p.Arg256Gly)RAF1Pathogenic/Likely pathogenic31264570312645703TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001354689.3(RAF1):c.768G>C (p.Arg256Ser)RAF1Likely pathogenic31264570112645701CGcriteria provided, single submitterUniProtKB (protein):P04049#VAR_037807
single nucleotide variantNM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr)RAF1Pathogenic31264569312645693GTreviewed by expert panel-
single nucleotide variantNM_001354689.3(RAF1):c.786T>A (p.Asn262Lys)RAF1Pathogenic31264568312645683ATcriteria provided, multiple submitters, no conflicts-
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_005159.5(ACTC1):c.553C>T (p.Arg185Trp)ACTC1Likely pathogenic153508467235084672GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)ACTC1Likely pathogenic153508429335084293AGcriteria provided, multiple submitters, no conflicts-
duplicationNM_014000.3(VCL):c.659dup (p.Asn220fs)VCLLikely pathogenic107583453175834532CCAcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.15496+1G>ATTNPathogenic/Likely pathogenic2179599054179599054CTcriteria provided, multiple submitters, no conflicts-