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)
DeletionSingle alleleBRCA1Pathogenic174127603441276113nanacriteria provided, single submitter-
DeletionSingle alleleBRCA1Pathogenic174119769441197818nanacriteria provided, single submitter-
DuplicationNM_000059.4(BRCA2):c.8533dup (p.Arg2845fs)BRCA2Pathogenic133294513532945136GGAreviewed by expert panelClinGen:CA645509336
single nucleotide variantNM_000059.4(BRCA2):c.-39-2A>GBRCA2Pathogenic/Likely pathogenic133289055732890557AGcriteria provided, multiple submitters, no conflictsClinGen:CA645509354
DeletionNM_000059.4(BRCA2):c.1887_1893del (p.Thr630fs)BRCA2Pathogenic133290750132907507CTTACATTCreviewed by expert panelClinGen:CA609453771
single nucleotide variantNM_000059.4(BRCA2):c.2860G>T (p.Glu954Ter)BRCA2Pathogenic133291135232911352GTreviewed by expert panelClinGen:CA387773975
single nucleotide variantNM_000059.4(BRCA2):c.3376G>T (p.Glu1126Ter)BRCA2Pathogenic133291186832911868GTreviewed by expert panelClinGen:CA387776416
DeletionNM_000059.4(BRCA2):c.4037del (p.Thr1346fs)BRCA2Pathogenic133291252932912529ACAreviewed by expert panelClinGen:CA609453793
DeletionNM_000059.4(BRCA2):c.4346_4350del (p.Asn1448_Phe1449insTer)BRCA2Pathogenic133291283632912840ATTTCTAreviewed by expert panelClinGen:CA645509346
DeletionNM_000059.4(BRCA2):c.4376del (p.Asn1459fs)BRCA2Pathogenic133291286732912867TATreviewed by expert panelClinGen:CA645509347