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)
single nucleotide variantNM_002878.4(RAD51D):c.576+1G>TRAD51DLikely pathogenic173343340433433404CAcriteria provided, single submitter-
DeletionNC_000017.11:g.(?_35100943)_(35103554_?)delRAD51DPathogenic173342796233430573nanacriteria provided, single submitter-
DeletionNC_000017.11:g.(?_35100943)_(35101046_?)delRAD51DLikely pathogenic173342796233428065nanacriteria provided, single submitter-
single nucleotide variantNM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)RAD51DPathogenic173344613333446133GCcriteria provided, single submitter-
InsertionNM_002878.4(RAD51D):c.243_244insGG (p.Leu82fs)RAD51DPathogenic173344553933445540GGCCcriteria provided, single submitter-
DeletionNM_002878.4(RAD51D):c.752del (p.Ile251fs)RAD51DLikely pathogenic173342837133428371TATcriteria provided, multiple submitters, no conflicts-
DeletionNM_002878.4(RAD51D):c.766del (p.Asp256fs)RAD51DLikely pathogenic173342835733428357TCTcriteria provided, single submitter-
DeletionNM_002878.4(RAD51D):c.854del (p.Gly285fs)RAD51DLikely pathogenic173342826933428269TCTcriteria provided, single submitter-
DeletionNM_002878.4(RAD51D):c.254del (p.Gly85fs)RAD51DPathogenic173344552933445529GCGcriteria provided, single submitter-
DeletionNM_002878.4(RAD51D):c.508del (p.Val170fs)RAD51DPathogenic173343347333433473ACAcriteria provided, single submitter-