C1836860[trait identifier] AND "Leiden Open Variation Database"[submit - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 232701	NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 929545	NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)	BRIP1 (L1221V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 929544	NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 927139	NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)	BRIP1 (I1191T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 185173	NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 929542	NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup)	BRIP1	Duplication (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 183702	NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign
Select item 483208	NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys)	BRIP1 (S1115C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 219865	NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)	BRIP1 (S1089C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 231368	NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu)	BRIP1 (S1063L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 186944	NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)	BRIP1 (L1047S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 929533	NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu)	BRIP1 (K1040E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 461045	NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)	BRIP1 (S1025fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +3 more	GLikely pathogenic
Select item 182356	NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)	BRIP1	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 461044	NM_032043.3(BRIP1):c.2947del (p.Ile983fs)	BRIP1 (I983fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
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 929531	NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)	BRIP1 (Q947*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
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 530300	NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)	BRIP1 (L929fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 133756	NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)	BRIP1 (S919P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GBenign
Select item 183703	NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 232278	NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp)	BRIP1 (N852D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
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 128174	NM_032043.3(BRIP1):c.2492+2dup	BRIP1	Duplication (splice donor variant)	BRIP1-related disorder +4 more	GPathogenic/Likely pathogenic
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 142343	NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	BRIP1 (Y800*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 4738	NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	BRIP1 (R798*)	Single nucleotide variant (nonsense)	Familial cancer of breast +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 489825	NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)	BRIP1 (E767D)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
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 929549	NM_032043.3(BRIP1):c.2127C>G (p.Leu709=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 820758	NM_032043.3(BRIP1):c.2121T>C (p.Arg707=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GLikely benign
Select item 234570	NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)	BRIP1 (R707C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 924653	NM_032043.3(BRIP1):c.2091T>C (p.Ser697=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GLikely benign
Select item 481653	NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala)	BRIP1 (E675A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 929547	NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp)	BRIP1 (N666D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 629513	NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly)	BRIP1 (R658G)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +3 more	GUncertain significance
Select item 241635	NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)	BRIP1 (W647C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 929541	NM_032043.3(BRIP1):c.1629-498A>T	BRIP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 461078	NM_032043.3(BRIP1):c.1628+5G>A	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 230095	NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)	BRIP1 (M532V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 929539	NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu)	BRIP1 (P488L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 584970	NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser)	BRIP1 (T476S)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 182361	NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 856241	NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)	BRIP1 (A451V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 929536	NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val)	BRIP1 (I430V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 182360	NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 183777	NM_032043.3(BRIP1):c.1194C>T (p.Ile398=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 659729	NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)	BRIP1 (H396D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GConflicting classifications of pathogenicity
Select item 929528	NM_032043.3(BRIP1):c.1116T>C (p.Leu372=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 186025	NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile)	BRIP1 (L372I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 822149	NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)	BRIP1 (I365V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 30535	NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	BRIP1 (A349P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GPathogenic/Likely pathogenic
Select item 407835	NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)	BRIP1 (L340F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 929526	NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe)	BRIP1 (L325F)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 219458	NM_032043.3(BRIP1):c.972A>T (p.Thr324=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 645530	NM_032043.3(BRIP1):c.842A>C (p.His281Pro)	BRIP1 (H281P)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 128196	NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)	BRIP1 (T266M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 929523	NM_032043.3(BRIP1):c.765G>T (p.Gln255His)	BRIP1 (Q255H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J	GPathogenic
Select item 233800	NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg)	BRIP1 (K242R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 483181	NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)	BRIP1 (S241P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GConflicting classifications of pathogenicity
Select item 826624	NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)	BRIP1 (Q227*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +2 more	GPathogenic/Likely pathogenic
Select item 461173	NM_032043.3(BRIP1):c.588C>T (p.Asn196=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GLikely benign
Select item 128194	NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)	BRIP1 (N196S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GConflicting classifications of pathogenicity
Select item 929519	NM_032043.3(BRIP1):c.542A>G (p.His181Arg)	BRIP1 (H181R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 185619	NM_032043.3(BRIP1):c.537A>G (p.Glu179=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 133760	NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)	BRIP1 (A144T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +5 more	GBenign/Likely benign
Select item 241660	NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu)	BRIP1 (K137E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 234159	NM_032043.3(BRIP1):c.408A>G (p.Ala136=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 929518	NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile)	BRIP1 (T96I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 140945	NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)	BRIP1 (C88del)	Microsatellite (inframe_deletion)	Familial cancer of breast +4 more	GUncertain significance
Select item 184224	NM_032043.3(BRIP1):c.225C>T (p.Gly75=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 929517	NM_032043.3(BRIP1):c.205+5G>T	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 483161	NM_032043.3(BRIP1):c.87G>T (p.Met29Ile)	BRIP1 (M29I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +4 more	GUncertain significance
Select item 232154	NM_032043.3(BRIP1):c.57T>C (p.Tyr19=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GLikely benign

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Items: 83