Knowledge base for genomic medicine in Japanese
家族性膵がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000059.4(BRCA2):c.729_732del (p.Asn243fs)BRCA2Pathogenic133290510332905106ATGATAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):957&base_change=del TGAT,ClinGen:CA025015
single nucleotide variantNM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter)BRCA2Pathogenic133292929332929293CTreviewed by expert panelClinGen:CA025020
DeletionNM_000059.4(BRCA2):c.7322del (p.Gly2441fs)BRCA2Pathogenic133292931132929311TGTreviewed by expert panelClinGen:CA025029
single nucleotide variantNM_000059.4(BRCA2):c.733A>T (p.Arg245Ter)BRCA2Pathogenic133290510732905107ATreviewed by expert panelClinGen:CA025035
DeletionNM_000059.4(BRCA2):c.7360del (p.Ile2454fs)BRCA2Pathogenic133292935032929350GAGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):7588&base_change=del A,ClinGen:CA025043
single nucleotide variantNM_000059.4(BRCA2):c.7375A>T (p.Lys2459Ter)BRCA2Pathogenic133292936532929365ATreviewed by expert panelClinGen:CA025046
DeletionNM_000059.4(BRCA2):c.7379del (p.Asn2460fs)BRCA2Pathogenic133292936532929365CACreviewed by expert panelClinGen:CA025050
DeletionNM_000059.4(BRCA2):c.7408_7409del (p.Phe2470fs)BRCA2Pathogenic133292939732929398CTTCreviewed by expert panelClinGen:CA025058
DuplicationNM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)BRCA2Pathogenic133292939632929397CCTreviewed by expert panelClinGen:CA025059
single nucleotide variantNM_000059.4(BRCA2):c.7436-2A>TBRCA2Pathogenic133293056332930563ATcriteria provided, multiple submitters, no conflictsClinGen:CA025085