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_000256.3(MYBPC3):c.3302del (p.Thr1101fs)MYBPC3Pathogenic114735477347354773TGTcriteria provided, single submitter-
DeletionNM_000256.3(MYBPC3):c.3217del (p.Arg1073fs)MYBPC3Likely pathogenic114735485847354858CGCcriteria provided, single submitterClinGen:CA013676
DuplicationNM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs)MYBPC3Pathogenic/Likely pathogenic114735485747354858CCGcriteria provided, multiple submitters, no conflictsClinGen:CA296433
DeletionNM_000256.3(MYBPC3):c.3182_3190+4delMYBPC3Pathogenic/Likely pathogenic114735510447355116CGCACCAACAACCTCcriteria provided, multiple submitters, no conflictsClinGen:CA296495
DeletionNM_000256.3(MYBPC3):c.3190+3delMYBPC3Pathogenic114735510547355105GCGcriteria provided, single submitterClinGen:CA013625
IndelNM_000256.3(MYBPC3):c.3079G>AAMYBPC3Pathogenic114735521947355219CTTcriteria provided, multiple submitters, no conflictsClinGen:CA296432
single nucleotide variantNM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter)MYBPC3Pathogenic114735526447355264GAcriteria provided, multiple submitters, no conflictsClinGen:CA013359
single nucleotide variantNM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter)MYBPC3Pathogenic114735527747355277CTcriteria provided, single submitterClinGen:CA013344
single nucleotide variantNM_000256.3(MYBPC3):c.2995-1G>AMYBPC3Pathogenic114735530447355304CTcriteria provided, single submitterClinGen:CA013288
single nucleotide variantNM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)MYBPC3Pathogenic114735547547355475GAcriteria provided, multiple submitters, no conflictsClinGen:CA013265