Knowledge base for genomic medicine in Japanese
膵臓がん・悪性黒色腫症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000077.5(CDKN2A):c.238del (p.Arg80fs)CDKN2ALikely pathogenic92197112021971120CGCcriteria provided, single submitter-
DeletionNM_000077.5(CDKN2A):c.221del (p.Asp74fs)CDKN2APathogenic92197113721971137GTGcriteria provided, single submitter-
single nucleotide variantNM_058195.4(CDKN2A):c.97G>T (p.Glu33Ter)CDKN2APathogenic92199423421994234CAcriteria provided, single submitter-
DeletionNC_000009.12:g.(?_21968219)_(21994341_?)delCDKN2APathogenic92196821821994340nanacriteria provided, single submitter-
DuplicationNM_000077.5(CDKN2A):c.359_360dup (p.Leu121fs)CDKN2ALikely pathogenic92197099721970998GGCTcriteria provided, single submitter-
DeletionNM_000077.5(CDKN2A):c.69del (p.Arg24fs)CDKN2APathogenic92197475821974758GAGcriteria provided, single submitter-
DuplicationNM_000077.5(CDKN2A):c.197dup (p.His66fs)CDKN2APathogenic92197116021971161GGTcriteria provided, single submitter-
single nucleotide variantNM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter)CDKN2APathogenic92197479221974792GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000077.5(CDKN2A):c.151-1G>ACDKN2APathogenic92197120821971208CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000077.5(CDKN2A):c.189del (p.Leu64fs)CDKN2APathogenic92197116921971169GCGcriteria provided, single submitter-