C0919267[trait identifier] AND "Leiden Open Variation Database"[submit - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 835311	NM_058216.3(RAD51C):c.68_72dup (p.Val25fs)	RAD51C (V25fs)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GPathogenic
Select item 182847	NM_058216.3(RAD51C):c.93del (p.Phe32fs)	RAD51C (F32fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GPathogenic
Select item 182844	NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)	RAD51C (Y75*)	Duplication (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 31557	NM_058216.3(RAD51C):c.230del (p.Gly77fs)	RAD51C (G77fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 490124	NM_058216.3(RAD51C):c.341G>T (p.Gly114Val)	RAD51C (G114V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141095	NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)	RAD51C (R168*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GPathogenic
Select item 409827	NM_058216.3(RAD51C):c.525dup (p.Cys176fs)	RAD51C (C176fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 929793	NM_058216.3(RAD51C):c.571+64C>A	RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer	GLikely benign
Select item 128209	NM_058216.3(RAD51C):c.706-2A>G	RAD51C	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 128210	NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	RAD51C (L262V)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 229854	NM_058216.3(RAD51C):c.837+1G>A	RAD51C	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 183702	NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 324348	NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)	BRIP1 (A1081fs)	Duplication (frameshift variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 232950	NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)	BRIP1 (I952V)	Single nucleotide variant (missense variant)	Ovarian neoplasm +5 more	GConflicting classifications of pathogenicity
Select item 128180	NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)	BRIP1 (Q944E)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 133756	NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)	BRIP1 (S919P)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 183703	NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +6 more	GBenign
Select item 141499	NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)	BRIP1 (R848H)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 133755	NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)	BRIP1 (R814C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 4738	NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	BRIP1 (R798*)	Single nucleotide variant (nonsense)	BRIP1-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 182330	NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)	BRIP1 (K797R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 133753	NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)	BRIP1 (N775S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 185226	NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)	BRIP1 (R762H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GUncertain significance
Select item 128170	NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)	BRIP1 (A759fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 184968	NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)	BRIP1 (D753G)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 182353	NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +6 more	GBenign/Likely benign
Select item 219544	NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)	BRIP1 (A551E)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 141975	NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)	BRIP1 (G481D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GConflicting classifications of pathogenicity
Select item 128196	NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)	BRIP1 (T266M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 407869	NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)	BRIP1 (L263F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +4 more	GUncertain significance
Select item 133760	NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)	BRIP1 (A144T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign

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Items: 31