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)
single nucleotide variantNM_004656.4(BAP1):c.2050C>T (p.Gln684Ter)BAP1Pathogenic35243662452436624GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603089.0004
single nucleotide variantNM_004656.4(BAP1):c.799C>T (p.Gln267Ter)BAP1Pathogenic35243991352439913GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603089.0007
single nucleotide variantNM_004656.4(BAP1):c.778C>T (p.Gln260Ter)BAP1Pathogenic35244027452440274GAcriteria provided, single submitter-
deletionNM_004656.4(BAP1):c.1717del (p.Leu573fs)BAP1Pathogenic35243744452437444AGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004656.4(BAP1):c.1063C>T (p.Gln355Ter)BAP1Pathogenic35243917952439179GAcriteria provided, multiple submitters, no conflicts-
indelNM_004656.4(BAP1):c.1881_1882delinsG (p.Tyr627_Ser628delinsTer)BAP1Pathogenic35243716252437163AGCcriteria provided, single submitter-
single nucleotide variantNM_004656.4(BAP1):c.805G>T (p.Glu269Ter)BAP1Pathogenic35243990752439907CAcriteria provided, single submitter-
deletionNM_004656.4(BAP1):c.592del (p.Glu198fs)BAP1Pathogenic35244091252440912TCTcriteria provided, single submitter-
deletionNM_004656.4(BAP1):c.1835del (p.Lys612fs)BAP1Pathogenic35243720952437209CTCcriteria provided, single submitter-
deletionNM_004656.4(BAP1):c.1416del (p.Ser473fs)BAP1Pathogenic35243774552437745TCTcriteria provided, single submitter-