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)
IndelNM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs)BRCA2Pathogenic133291217532912175AGGreviewed by expert panelClinGen:CA645372958
DuplicationNM_000059.4(BRCA2):c.7580dup (p.Gly2528fs)BRCA2Pathogenic133293070832930709GGTreviewed by expert panelClinGen:CA645372940
DuplicationNM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter)BRCA2Pathogenic133295394532953946GGAGATreviewed by expert panelClinGen:CA645372936
DuplicationNM_000059.4(BRCA2):c.9103dup (p.Tyr3035fs)BRCA2Pathogenic133295403532954036GGTreviewed by expert panelClinGen:CA645372938
single nucleotide variantNM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)BRCA2Likely pathogenic133296894232968942CTcriteria provided, single submitterClinGen:CA387761221
DuplicationNM_007294.3(BRCA1):c.548-?_593+?dupBRCA1Pathogenic174124926141249306nanacriteria provided, single submitter-
single nucleotide variantNM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)BRCA1Likely pathogenic174119773041197730ATcriteria provided, multiple submitters, no conflicts-
DuplicationNM_007294.4(BRCA1):c.5427dup (p.Val1810fs)BRCA1Pathogenic174119969941199700CCAreviewed by expert panelClinGen:CA645373165
single nucleotide variantNM_007294.4(BRCA1):c.5380G>T (p.Glu1794Ter)BRCA1Pathogenic174120116441201164CAreviewed by expert panelClinGen:CA10590712
single nucleotide variantNM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)BRCA1Likely pathogenic174120909541209095GCcriteria provided, single submitterClinGen:CA10591045