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)
DuplicationNM_000256.3(MYBPC3):c.2868dup (p.Thr957fs)MYBPC3Pathogenic114735662947356630TTAcriteria provided, single submitter-
single nucleotide variantNM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg)MYBPC3Likely pathogenic114735928047359280ATcriteria provided, single submitter-
DuplicationNM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs)MYBPC3Pathogenic114736007047360071CCCGATcriteria provided, single submitter-
DeletionNM_000256.3(MYBPC3):c.310del (p.Leu104fs)MYBPC3Pathogenic114737214947372149AGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000363.5(TNNI3):c.404T>C (p.Leu135Pro)TNNI3Likely pathogenic195566554355665543AGcriteria provided, single submitter-
single nucleotide variantNM_000257.4(MYH7):c.741C>A (p.Phe247Leu)MYH7Likely pathogenic142390068223900682GTcriteria provided, multiple submitters, no conflicts-
IndelNM_000256.3(MYBPC3):c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer)MYBPC3Likely pathogenic114736363447363648ACATTTGAACACCGCCTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGcriteria provided, single submitter-
single nucleotide variantNM_000257.4(MYH7):c.1189A>G (p.Lys397Glu)MYH7Likely pathogenic142389850623898506TCcriteria provided, single submitter-
single nucleotide variantNM_032578.4(MYPN):c.2704-1G>AMYPNLikely pathogenic106994866169948661GAcriteria provided, single submitter-
single nucleotide variantNM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)FLNCPathogenic/Likely pathogenic7128498475128498475CAcriteria provided, multiple submitters, no conflicts-