Knowledge base for genomic medicine in Japanese
肥大型心筋症
循環器・内分泌疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
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_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_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu)PRKAG2Pathogenic/Likely pathogenic7151257696151257696CAcriteria provided, multiple submitters, no conflicts-
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-