Knowledge base for genomic medicine in Japanese
家族性大腸腺腫症
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000038.6(APC):c.1530_1548+10delAPCLikely pathogenic5112162923112162951CTTTTGGAGATGTAGCCAACAAGGTATGTTCcriteria provided, single submitterClinGen:CA658655939
DuplicationNM_000038.6(APC):c.1538_1539dup (p.Ala514Ter)APCPathogenic5112162933112162934GGTAcriteria provided, multiple submitters, no conflictsClinGen:CA658655940
DuplicationNM_000038.6(APC):c.1633dup (p.Ala545fs)APCPathogenic5112164558112164559TTGcriteria provided, multiple submitters, no conflictsClinGen:CA658655949
single nucleotide variantNM_000038.6(APC):c.1983T>A (p.Cys661Ter)APCPathogenic5112173274112173274TAcriteria provided, single submitterClinGen:CA16025651
DuplicationNM_000038.6(APC):c.3090dup (p.Tyr1031fs)APCPathogenic5112174378112174379TTAcriteria provided, multiple submitters, no conflictsClinGen:CA658655908
DeletionNM_000038.6(APC):c.4290del (p.Met1431fs)APCPathogenic5112175580112175580ACAcriteria provided, single submitterClinGen:CA445964441
DeletionNM_000038.6(APC):c.5524del (p.Ser1842fs)APCPathogenic5112176814112176814ATAcriteria provided, single submitterClinGen:CA658655972
DeletionNM_000038.6(APC):c.74_75del (p.Gln25fs)APCPathogenic5112090661112090662CAACcriteria provided, multiple submitters, no conflictsClinGen:CA658657468
DeletionNM_000038.6(APC):c.684_687del (p.Leu229fs)APCPathogenic5112128180112128183ATACTAcriteria provided, multiple submitters, no conflictsClinGen:CA645546038
single nucleotide variantNM_000038.6(APC):c.802G>T (p.Glu268Ter)APCPathogenic5112137048112137048GTcriteria provided, multiple submitters, no conflictsClinGen:CA16023083