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)
single nucleotide variantNM_000059.4(BRCA2):c.110C>G (p.Ser37Ter)BRCA2Pathogenic133289325632893256CGreviewed by expert panelClinGen:CA10589010
single nucleotide variantNM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)BRCA2Pathogenic133289327232893272TAreviewed by expert panelClinGen:CA10589011
DeletionNM_000059.4(BRCA2):c.127_128del (p.Asn43fs)BRCA2Pathogenic133289327332893274TAATreviewed by expert panelClinGen:CA10589012
DuplicationNM_000059.4(BRCA2):c.201_202dup (p.Lys68fs)BRCA2Pathogenic133289334632893347GGGAreviewed by expert panelClinGen:CA10589013
DuplicationNM_000059.4(BRCA2):c.212dup (p.Tyr71Ter)BRCA2Pathogenic133289335732893358TTAreviewed by expert panelClinGen:CA10589014
InsertionNM_000059.4(BRCA2):c.224_225insA (p.Ser76fs)BRCA2Pathogenic133289337032893371CCAreviewed by expert panelClinGen:CA10589015
single nucleotide variantNM_000059.4(BRCA2):c.247G>T (p.Glu83Ter)BRCA2Pathogenic133289339332893393GTreviewed by expert panelClinGen:CA10589016
DeletionNM_000059.4(BRCA2):c.250del (p.Gln84fs)BRCA2Pathogenic133289339632893396GCGreviewed by expert panelClinGen:CA10589018
DeletionNM_000059.4(BRCA2):c.271_272del (p.Tyr91fs)BRCA2Pathogenic133289341732893418GTAGreviewed by expert panelClinGen:CA10589019
DeletionNM_000059.4(BRCA2):c.368_372del (p.Lys123fs)BRCA2Pathogenic133289926432899268AAAATGAreviewed by expert panelClinGen:CA10589020