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)
single nucleotide variantNM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)TTNPathogenic2179439983179439983CAcriteria provided, single submitter-
single nucleotide variantNM_003673.4(TCAP):c.1A>G (p.Met1Val)TCAPLikely pathogenic173782161337821613AGcriteria provided, single submitter-
DuplicationNM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter)TTNLikely pathogenic2179395919179395920GGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)TTNPathogenic/Likely pathogenic2179395919179395919GCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.73332C>A (p.Cys24444Ter)TTNLikely pathogenic2179437527179437527GTcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)TTNLikely pathogenic2179428127179428127TAcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.99401G>A (p.Trp33134Ter)TTNLikely pathogenic2179402533179402533CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_001267550.2(TTN):c.95009del (p.Arg31670fs)TTNLikely pathogenic2179411049179411049TCTcriteria provided, single submitter-
DeletionNM_001267550.2(TTN):c.105077_105078del (p.Tyr35026fs)TTNLikely pathogenic2179396264179396265CATCcriteria provided, single submitter-
DeletionNM_001267550.2(TTN):c.56330_56334del (p.Met18777fs)TTNLikely pathogenic2179464294179464298GTCTCAGcriteria provided, single submitter-