Knowledge base for genomic medicine in Japanese
家族性膵がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000059.4(BRCA2):c.4314del (p.Ala1439fs)BRCA2Pathogenic133291280632912806TCTreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4542&base_change=del C,ClinGen:CA019954
single nucleotide variantNM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)BRCA2Pathogenic133291281732912817CAreviewed by expert panelClinGen:CA019986
DeletionNM_000059.4(BRCA2):c.4339del (p.Ile1446_Val1447insTer)BRCA2Pathogenic133291283132912831TGTreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4567&base_change=del G,ClinGen:CA020014
DeletionNM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs)BRCA2Pathogenic133291287032912871CTTCreviewed by expert panelClinGen:CA020074
DeletionNM_000059.4(BRCA2):c.438del (p.Gln147fs)BRCA2Pathogenic133290025032900250TATreviewed by expert panelClinGen:CA020078
DeletionNM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)BRCA2Pathogenic133291288732912891AATTACAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4626&base_change=del ACATT,ClinGen:CA020088
single nucleotide variantNM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)BRCA2Pathogenic133290025132900251CTreviewed by expert panelClinGen:CA020093
DeletionNM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs)BRCA2Pathogenic133291290032912901CATCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4637&base_change=del TA,ClinGen:CA020106
DeletionNM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs)BRCA2Pathogenic133291290032912904CATAAGCreviewed by expert panelClinGen:CA020111
DeletionNM_000059.4(BRCA2):c.4423del (p.Met1475fs)BRCA2Pathogenic133291291232912912CACreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):4651&base_change=del A,ClinGen:CA020171