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.3335_3336del (p.Thr1112fs)APCPathogenic5112174625112174626AACAcriteria provided, single submitterClinGen:CA16618081
DeletionNM_000038.6(APC):c.3904del (p.Leu1302fs)APCPathogenic5112175193112175193ACAcriteria provided, multiple submitters, no conflictsClinGen:CA16618083
DeletionNM_000038.6(APC):c.3920_3924del (p.Ile1307fs)APCPathogenic5112175208112175212GAAATAGcriteria provided, multiple submitters, no conflictsClinGen:CA16618084
InsertionNM_000038.6(APC):c.4059_4060insG (p.Phe1354fs)APCPathogenic5112175350112175351AAGcriteria provided, single submitterClinGen:CA16618085
InsertionNM_000038.6(APC):c.4778_4779insT (p.Lys1593fs)APCPathogenic5112176069112176070AATcriteria provided, multiple submitters, no conflictsClinGen:CA16618087
DuplicationNM_000038.6(APC):c.5234dup (p.Ile1746fs)APCPathogenic/Likely pathogenic5112176520112176521GGAcriteria provided, multiple submitters, no conflictsClinGen:CA16618089
DeletionNM_000038.6(APC):c.5562del (p.Cys1855fs)APCPathogenic5112176853112176853ACAcriteria provided, single submitterClinGen:CA16618090
DeletionNM_000038.6(APC):c.5569del (p.Ser1857fs)APCLikely pathogenic5112176856112176856GTGcriteria provided, single submitterClinGen:CA16618091
single nucleotide variantNM_000038.6(APC):c.5764C>T (p.Gln1922Ter)APCPathogenic5112177055112177055CTcriteria provided, multiple submitters, no conflictsClinGen:CA16033943
DeletionNM_000038.6(APC):c.5839del (p.Thr1947fs)APCPathogenic5112177129112177129CACcriteria provided, single submitterClinGen:CA16618092