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)
DeletionNC_000017.11:g.(?_58734112)_(58734228_?)delRAD51CLikely pathogenic175681147356811589nanacriteria provided, single submitter-
DeletionNM_058216.3(RAD51C):c.1026+5_1026+7delRAD51CPathogenic/Likely pathogenic175680990956809911CAGTCcriteria provided, multiple submitters, no conflictsClinGen:CA331897
single nucleotide variantNM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)RAD51CLikely pathogenic175680989756809897CTcriteria provided, multiple submitters, no conflictsClinGen:CA400365176
single nucleotide variantNM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)RAD51CLikely pathogenic175680988456809884CAcriteria provided, multiple submitters, no conflictsClinGen:CA8677385
DeletionNM_058216.3(RAD51C):c.1000del (p.Glu334fs)RAD51CLikely pathogenic175680987856809878AGAcriteria provided, single submitter-
single nucleotide variantNM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)RAD51CLikely pathogenic175680987356809873CTcriteria provided, multiple submitters, no conflictsClinGen:CA400364974
DeletionNM_058216.1(RAD51C):c.966-?_1026+?delRAD51CPathogenic175680984556809905nanacriteria provided, single submitter-
DeletionNC_000017.11:g.(?_58732474)_(58734232_?)delRAD51CPathogenic175680983556811593nanacriteria provided, single submitter-
single nucleotide variantNM_058216.3(RAD51C):c.965+1G>ARAD51CLikely pathogenic175680146256801462GAcriteria provided, multiple submitters, no conflictsClinGen:CA299893
DeletionNM_058216.3(RAD51C):c.964del (p.Arg322fs)RAD51CLikely pathogenic175680145856801458CACcriteria provided, multiple submitters, no conflictsClinGen:CA658684139