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)
single nucleotide variantNM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro)CDKN2APathogenic/Likely pathogenic92197478021974780AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)CDKN2APathogenic/Likely pathogenic92197119921971199CTcriteria provided, multiple submitters, no conflictsClinGen:CA190730408
single nucleotide variantNM_000077.5(CDKN2A):c.151-2A>GCDKN2APathogenic/Likely pathogenic92197120921971209TCcriteria provided, multiple submitters, no conflictsClinGen:CA373086464
single nucleotide variantNM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)CDKN2APathogenic/Likely pathogenic92197468121974681ACcriteria provided, multiple submitters, no conflictsClinGen:CA373086481
single nucleotide variantNM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)CDKN2APathogenic/Likely pathogenic92197475921974759CTcriteria provided, multiple submitters, no conflictsClinGen:CA16618835
single nucleotide variantNM_000077.5(CDKN2A):c.151-1G>TCDKN2APathogenic/Likely pathogenic92197120821971208CAcriteria provided, multiple submitters, no conflictsClinGen:CA16618833
single nucleotide variantNM_000077.5(CDKN2A):c.458-105A>GCDKN2APathogenic/Likely pathogenic92196834621968346TCcriteria provided, multiple submitters, no conflictsClinGen:CA16612773,OMIM:600160.0014
single nucleotide variantNM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro)CDKN2APathogenic/Likely pathogenic92197473221974732AGcriteria provided, multiple submitters, no conflictsClinGen:CA10582657,UniProtKB:P42771#VAR_001416
single nucleotide variantNM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro)CDKN2APathogenic/Likely pathogenic92197109821971098CGcriteria provided, multiple submitters, no conflictsClinGen:CA10582653,UniProtKB:P42771#VAR_001451
single nucleotide variantNM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)CDKN2APathogenic/Likely pathogenic92197467821974678TCcriteria provided, multiple submitters, no conflictsClinGen:CA10578849,UniProtKB:P42771#VAR_001423