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_007294.4(BRCA1):c.2706del (p.Glu902fs)BRCA1Pathogenic174124484241244842ATAcriteria provided, single submitter-
single nucleotide variantNM_002878.4(RAD51D):c.576+1G>TRAD51DLikely pathogenic173343340433433404CAcriteria provided, single submitter-
DuplicationNC_000017.10:g.(?_41201118)_(41203154_?)dupBRCA1Likely pathogenic174120111841203154nanacriteria provided, single submitter-
DeletionNC_000017.11:g.(?_58709849)_(58710000_?)delRAD51CLikely pathogenic175678721056787361nanacriteria provided, single submitter-
DeletionNC_000017.11:g.(?_43104102)_(43115799_?)delBRCA1Pathogenic174125611941267816nanacriteria provided, single submitter-
DuplicationNC_000017.10:g.(?_41251772)_(41267816_?)dupBRCA1Likely pathogenic174125177241267816nanacriteria provided, single submitter-
DeletionNC_000017.11:g.(?_43099755)_(43115799_?)delBRCA1Pathogenic174125177241267816nanacriteria provided, single submitter-
DuplicationNC_000017.10:g.(?_41251772)_(41251917_?)dupBRCA1Likely pathogenic174125177241251917nanacriteria provided, single submitter-
DeletionNC_000017.11:g.(?_43067588)_(43125483_?)delBRCA1Pathogenic174121960541277500nanacriteria provided, single submitter-
single nucleotide variantNM_007294.4(BRCA1):c.5074+2T>ABRCA1Pathogenic174121962341219623ATcriteria provided, multiple submitters, no conflicts-