Knowledge base for genomic medicine in Japanese
遺伝性乳がん・卵巣がん症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_000059.3(BRCA2):c.3487del (p.Asp1163fs)BRCA2Pathogenic133291197932911979TGTreviewed by expert panel-
deletionNM_007294.4(BRCA1):c.4002_4005del (p.Leu1335fs)BRCA1Pathogenic174124354341243546TCAGATreviewed by expert panel-
deletionNM_007294.4(BRCA1):c.493del (p.Thr164_Leu165insTer)BRCA1Pathogenic174125184641251846AGAreviewed by expert panelBreast Cancer Information Core (BRCA1):612&base_change=del C
short repeatNM_000059.3(BRCA2):c.1366_1367GA[1] (p.Lys457fs)BRCA2Pathogenic133290698032906981CAGCreviewed by expert panel-
single nucleotide variantNM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)BRCA2Pathogenic133289324632893246GTreviewed by expert panel-
deletionNM_000059.3(BRCA2):c.1082del (p.Asn361fs)BRCA2Pathogenic133290669532906695CACreviewed by expert panel-
duplicationNM_000059.3(BRCA2):c.1097dup (p.Leu366fs)BRCA2Pathogenic133290671032906711AATreviewed by expert panel-
single nucleotide variantNM_000059.3(BRCA2):c.10G>T (p.Gly4Ter)BRCA2Pathogenic133289060732890607GTreviewed by expert panel-
single nucleotide variantNM_000059.3(BRCA2):c.1103C>A (p.Ser368Ter)BRCA2Pathogenic133290671832906718CAreviewed by expert panel-
single nucleotide variantNM_000059.3(BRCA2):c.1117C>T (p.Gln373Ter)BRCA2Pathogenic133290673232906732CTreviewed by expert panel-