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)
duplicationNM_058195.3(CDKN2A):c.194-3518dupCDKN2APathogenic92197472021974721GGCcriteria provided, multiple submitters, no conflicts-
short repeatNM_000077.4(CDKN2A):c.-16_8GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)CDKN2APathogenic/Likely pathogenic92197479421974795AAGGCTCCATGCTGCTCCCCGCCGCCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600160.0009
single nucleotide variantNM_058195.3(CDKN2A):c.193+5G>ACDKN2APathogenic/Likely pathogenic92199413321994133CTcriteria provided, multiple submitters, no conflicts-
short repeatNM_058195.3(CDKN2A):c.194-3573_194-3570delCDKN2APathogenic92197477721974780GGCCAGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000077.4(CDKN2A):c.238C>T (p.Arg80Ter)CDKN2APathogenic92197112021971120GAcriteria provided, single submitterOMIM Allelic Variant:600160.0002
single nucleotide variantNM_000077.4(CDKN2A):c.159G>C (p.Met53Ile)CDKN2APathogenic92197119921971199CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600160.0007,UniProtKB (protein):P42771#VAR_001424
single nucleotide variantNM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro)CDKN2APathogenic/Likely pathogenic92197475621974756CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600160.0008,UniProtKB (protein):P42771#VAR_001414
single nucleotide variantNM_000077.4(CDKN2A):c.377T>A (p.Val126Asp)CDKN2APathogenic92197098121970981ATcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600160.0013,UniProtKB (protein):P42771#VAR_001479
single nucleotide variantNM_000077.4(CDKN2A):c.176T>G (p.Val59Gly)CDKN2APathogenic/Likely pathogenic92197118221971182ACcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600160.0016,UniProtKB (protein):P42771#VAR_001427
indelNM_000077.4(CDKN2A):c.339_340delGCinsCT (p.Pro114Ser)CDKN2APathogenic92197101821971019GCAGcriteria provided, single submitterOMIM Allelic Variant:600160.0017