C1836860[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 186726	NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)	BRIP1 (W1217*)	Single nucleotide variant (nonsense)	not provided +5 more	GUncertain significance
Select item 186989	NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)	BRIP1 (I1191V)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 182337	NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)	BRIP1 (A1187T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 128189	NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)	BRIP1 (G1155E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 136580	NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)	BRIP1	Single nucleotide variant (synonymous variant)	Ovarian neoplasm +6 more	GConflicting classifications of pathogenicity
Select item 133758	NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)	BRIP1 (D1148E)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 219832	NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)	BRIP1 (E1144G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 183702	NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 229712	NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	BRIP1 (Y1131fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group J +5 more	GLikely pathogenic
Select item 128187	NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)	BRIP1 (E1126D)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 230092	NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)	BRIP1	Single nucleotide variant (synonymous variant)	Ovarian neoplasm +5 more	GBenign/Likely benign
Select item 128186	NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)	BRIP1 (E1111Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 136149	NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)	BRIP1 (P1092L)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
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 141336	NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)	BRIP1 (I1079M)	Single nucleotide variant (missense variant)	Ovarian neoplasm +5 more	GUncertain significance
Select item 128185	NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)	BRIP1 (I1079T)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 232157	NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu)	BRIP1 (S1075L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +5 more	GUncertain significance
Select item 182367	NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)	BRIP1 (S1066fs)	Deletion (frameshift variant)	Familial cancer of breast +5 more	GLikely pathogenic
Select item 140825	NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)	BRIP1 (T1050N)	Single nucleotide variant (missense variant)	Ovarian neoplasm +4 more	GConflicting classifications of pathogenicity
Select item 128183	NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)	BRIP1 (R1035H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 140819	NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)	BRIP1 (R1035C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GConflicting classifications of pathogenicity
Select item 184008	NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 185090	NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)	BRIP1 (S1032R)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 407819	NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)	BRIP1 (G1024R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 215950	NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 186283	NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)	BRIP1 (P1017L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 187416	NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)	BRIP1 (K998fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic/Likely pathogenic
Select item 234281	NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	BRIP1 (T997fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group J +5 more	GPathogenic/Likely pathogenic
Select item 185275	NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 140985	NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)	BRIP1 (I983N)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 136579	NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 186793	NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)	BRIP1 (V972I)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 233111	NM_032043.3(BRIP1):c.2905+1G>A	BRIP1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 184706	NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)	BRIP1 (I962T)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 487434	NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)	BRIP1 (S956*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 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 487435	NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)	BRIP1 (Q944*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 128180	NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)	BRIP1 (Q944E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 133757	NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)	BRIP1 (V935G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +7 more	GConflicting classifications of pathogenicity
Select item 216793	NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)	BRIP1 (F934V)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 142366	NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	BRIP1 (L922*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 133756	NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)	BRIP1 (S919P)	Single nucleotide variant (missense variant)	Ovarian neoplasm +6 more	GBenign
Select item 128179	NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)	BRIP1 (I902M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 216792	NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)	BRIP1 (H888Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 183703	NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 230320	NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)	BRIP1 (R865W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 128177	NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)	BRIP1 (L860P)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 372100	NM_032043.3(BRIP1):c.2576-17T>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 418097	NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys)	BRIP1 (Y856C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +4 more	GUncertain significance
Select item 128175	NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)	BRIP1 (R855H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +5 more	GUncertain significance
Select item 216789	NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)	BRIP1 (R855C)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 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 407844	NM_032043.3(BRIP1):c.2492+5G>A	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 128173	NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)	BRIP1 (R823S)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 548822	NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys)	BRIP1 (Y817C)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 141744	NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)	BRIP1 (R814H)	Single nucleotide variant (missense variant)	Ovarian neoplasm +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 142949	NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)	BRIP1 (R798Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 4738	NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	BRIP1 (R798*)	Single nucleotide variant (nonsense)	not provided +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 142595	NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)	BRIP1 (Q793*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +4 more	GPathogenic/Likely pathogenic
Select item 142346	NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)	BRIP1 (I782V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +5 more	GUncertain significance
Select item 548828	NM_032043.3(BRIP1):c.2341dup (p.Thr781fs)	BRIP1 (T781fs)	Duplication (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
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 136575	NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
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 136574	NM_032043.3(BRIP1):c.2257+19A>C	BRIP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 182372	NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)	BRIP1 (K752fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 133751	NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)	BRIP1 (I746V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 128169	NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)	BRIP1 (A745T)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
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 133752	NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	BRIP1 (Q740H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 220629	NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)	BRIP1 (K705fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 372090	NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)	BRIP1 (L704*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +4 more	GPathogenic/Likely pathogenic
Select item 182364	NM_032043.3(BRIP1):c.2097+8A>C	BRIP1	Single nucleotide variant	Ovarian neoplasm +4 more	GBenign/Likely benign
Select item 136147	NM_032043.3(BRIP1):c.2097+7G>A	BRIP1	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 128167	NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)	BRIP1 (P696L)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GUncertain significance
Select item 142280	NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)	BRIP1 (I691L)	Single nucleotide variant (missense variant)	Ovarian neoplasm +5 more	GUncertain significance
Select item 136146	NM_032043.3(BRIP1):c.2061G>C (p.Val687=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 232067	NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)	BRIP1 (Q685*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +3 more	GPathogenic/Likely pathogenic
Select item 128166	NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)	BRIP1 (L680fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 186720	NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)	BRIP1 (R658W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 186189	NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)	BRIP1 (W647C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 182363	NM_032043.3(BRIP1):c.1935+5GTT[2]	BRIP1	Microsatellite (intron variant)	Ovarian neoplasm +5 more	GConflicting classifications of pathogenicity
Select item 372096	NM_032043.3(BRIP1):c.1935+11G>A	BRIP1	Single nucleotide variant (intron variant)	Fanconi anemia complementation group J +6 more	GBenign/Likely benign
Select item 231114	NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)	BRIP1 (I633M)	Single nucleotide variant (missense variant)	Ovarian neoplasm +5 more	GUncertain significance
Select item 185806	NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 186440	NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)	BRIP1 (S624L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 140852	NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)	BRIP1 (S624*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 141753	NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)	BRIP1 (P619fs)	Insertion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 186270	NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)	BRIP1 (V611I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 461083	NM_032043.3(BRIP1):c.1795-9T>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 233799	NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)	BRIP1 (H587L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 233608	NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)	BRIP1 (H587D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 128162	NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)	BRIP1 (R579C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 449972	NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del)	BRIP1 (N568del)	Deletion (inframe_deletion)	Fanconi anemia complementation group J +4 more	GUncertain significance
Select item 221621	NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)	BRIP1 (N568fs)	Deletion (frameshift variant)	Carcinoma of colon +5 more	GPathogenic/Likely pathogenic
Select item 182352	NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)	BRIP1 (I562V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance

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