Knowledge base for genomic medicine in Japanese
BAP1関連腫瘍感受性症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_004656.4(BAP1):c.639dup (p.Ile214fs)BAP1Pathogenic35244086452440865TTAcriteria provided, multiple submitters, no conflicts-
DeletionNC_000003.12:g.(?_52405100)_(52405922_?)delBAP1Likely pathogenic35243911652439938nanacriteria provided, single submitter-
single nucleotide variantNM_004656.4(BAP1):c.2056+1G>CBAP1Likely pathogenic35243661752436617CGcriteria provided, multiple submitters, no conflicts-
DeletionNM_004656.4(BAP1):c.1984-3_1999delBAP1Likely pathogenic35243667552436693CTTCTCTGGTCATCAATCTGCcriteria provided, single submitter-
single nucleotide variantNM_004656.4(BAP1):c.1729+1G>ABAP1Pathogenic35243743152437431CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004656.4(BAP1):c.1251-1G>ABAP1Likely pathogenic35243791152437911CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004656.4(BAP1):c.375+1G>TBAP1Likely pathogenic35244197352441973CAcriteria provided, single submitter-
single nucleotide variantNM_004656.4(BAP1):c.122+1G>ABAP1Pathogenic35244356952443569CTcriteria provided, multiple submitters, no conflicts-