Knowledge base for genomic medicine in Japanese
肥大型心筋症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_001267550.2(TTN):c.107644del (p.Ser35882fs)TTNLikely pathogenic2179392209179392209CTCcriteria provided, multiple submitters, no conflicts-
DeletionNM_001267550.2(TTN):c.73676_73694del (p.Arg24559fs)TTNLikely pathogenic2179437165179437183TGCTTTTCTTGTTGATTCCCTcriteria provided, single submitter-
single nucleotide variantNM_144573.4(NEXN):c.799G>T (p.Glu267Ter)NEXNPathogenic17839251278392512GTcriteria provided, single submitter-
IndelNM_001458.5(FLNC):c.7562-15_7637delinsGAGGFLNCPathogenic7128497157128497247ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTCGAGGcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.106531+1G>ATTNPathogenic/Likely pathogenic2179394686179394686CTcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)TTNLikely pathogenic2179414948179414949CCTTcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)TTNPathogenic/Likely pathogenic2179518019179518019CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)TTNLikely pathogenic2179587034179587034AGcriteria provided, single submitter-
DuplicationNM_001267550.2(TTN):c.92812dup (p.Arg30938fs)TTNLikely pathogenic2179413540179413541CCTcriteria provided, single submitter-
single nucleotide variantNM_000257.4(MYH7):c.1963C>A (p.Leu655Met)MYH7Pathogenic142389606723896067GTcriteria provided, single submitter-