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_007294.4(BRCA1):c.848_879del (p.Ser282_Leu283insTer)BRCA1Pathogenic174124666941246700TAGTGAGTAATAAACTGCTGTTCTCATGCTGTATreviewed by expert panelClinGen:CA10588656
IndelNM_000059.3(BRCA2):c.48_50delinsATCGATCGAT (p.Thr17fs)BRCA2Pathogenic133289064532890647GACATCGATCGATreviewed by expert panelClinGen:CA10589001
DuplicationNM_000059.4(BRCA2):c.48dup (p.Thr17fs)BRCA2Pathogenic133289064432890645AAGreviewed by expert panelClinGen:CA10589002
DeletionNM_000059.4(BRCA2):c.52_61del (p.Arg18fs)BRCA2Pathogenic133289064632890655GACACGCTGCAGreviewed by expert panelClinGen:CA10589003
single nucleotide variantNM_000059.4(BRCA2):c.71T>G (p.Leu24Ter)BRCA2Pathogenic133289321732893217TGreviewed by expert panelClinGen:CA10589004
single nucleotide variantNM_000059.4(BRCA2):c.73G>T (p.Gly25Ter)BRCA2Pathogenic133289321932893219GTreviewed by expert panelClinGen:CA10589005
DuplicationNM_000059.4(BRCA2):c.103dup (p.Leu35fs)BRCA2Pathogenic133289324832893249AACreviewed by expert panelClinGen:CA10589006
DeletionNM_000059.4(BRCA2):c.104_110del (p.Leu35fs)BRCA2Pathogenic133289324932893255ACTTTCTTAreviewed by expert panelClinGen:CA10589007
DeletionNM_000059.4(BRCA2):c.109_112del (p.Ser37fs)BRCA2Pathogenic133289325532893258TTCAGTreviewed by expert panelClinGen:CA10589008
single nucleotide variantNM_000059.4(BRCA2):c.110C>A (p.Ser37Ter)BRCA2Pathogenic133289325632893256CAreviewed by expert panelClinGen:CA10589009