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.3847del (p.Thr1282_Val1283insTer)BRCA2Pathogenic133291233932912339TGTreviewed by expert panelClinGen:CA018939
DeletionNM_000059.4(BRCA2):c.3849_3852del (p.Ser1284fs)BRCA2Pathogenic133291233932912342TGTAATreviewed by expert panelClinGen:CA018955
DeletionNM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer)BRCA2Pathogenic133291234632912347GAAGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4087&base_change=del AA,ClinGen:CA018979
DeletionNM_000059.4(BRCA2):c.3860_3863del (p.Asn1287fs)BRCA2Pathogenic133291235032912353AAAATAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4088&base_change=del ATAA,ClinGen:CA018990
DeletionNM_000059.4(BRCA2):c.3860del (p.Asn1287fs)BRCA2Pathogenic133291234632912346GAGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4082&base_change=del A,Breast Cancer Information Core (BIC) (BRCA2):4088&base_change=del A,ClinGen:CA018995
DuplicationNM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)BRCA2Pathogenic133291234532912346GGAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4088&base_change=ins A,ClinGen:CA018986
DuplicationNM_000059.4(BRCA2):c.3863dup (p.Asn1288fs)BRCA2Pathogenic133291235332912354TTAreviewed by expert panelClinGen:CA019002
DeletionNM_000059.4(BRCA2):c.3866_3867del (p.Lys1289fs)BRCA2Pathogenic133291235732912358TAATreviewed by expert panelClinGen:CA019031
single nucleotide variantNM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)BRCA2Pathogenic133291236332912363CTreviewed by expert panelClinGen:CA019043
single nucleotide variantNM_000059.4(BRCA2):c.3881T>A (p.Leu1294Ter)BRCA2Pathogenic133291237332912373TAreviewed by expert panelClinGen:CA019063