C1836860[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 407814	NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs)	BRIP1 (M1244fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 182368	NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)	BRIP1 (M1244fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 128190	NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)	BRIP1 (G1243C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 133759	NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)	BRIP1 (F1234C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 231673	NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)	BRIP1 (I1231V)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 461162	NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)	BRIP1 (E1222fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 187564	NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)	BRIP1 (L1221R)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
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 141402	NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)	BRIP1 (W1217C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 418650	NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His)	BRIP1 (D1208H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 229894	NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)	BRIP1 (K1186E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 461155	NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)	BRIP1 (E1178V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 2921911	NM_032043.3(BRIP1):c.3455_3467del (p.Thr1152fs)	BRIP1 (T1152fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 185524	NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)	BRIP1 (K1146E)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
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 935623	NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg)	BRIP1 (T1142R)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 232616	NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)	BRIP1 (D1138N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 220899	NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)	BRIP1 (P1134fs)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 461148	NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)	BRIP1 (I1130V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 185905	NM_032043.3(BRIP1):c.3388A>T (p.Ile1130Phe)	BRIP1 (I1130F)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 418644	NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala)	BRIP1 (T1123A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 185199	NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala)	BRIP1 (S1117A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 407813	NM_032043.3(BRIP1):c.3329A>G (p.Glu1110Gly)	BRIP1 (E1110G)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 823568	NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)	BRIP1 (L1105F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 628185	NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val)	BRIP1 (E1104V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 407875	NM_032043.3(BRIP1):c.3308T>A (p.Ile1103Asn)	BRIP1 (I1103N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 141666	NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)	BRIP1 (D1100N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 186266	NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg)	BRIP1 (L1099R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 230751	NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala)	BRIP1 (E1097A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 489831	NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr)	BRIP1 (H1091Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 631323	NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys)	BRIP1 (N1087K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 232062	NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)	BRIP1 (N1087fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +2 more	GLikely pathogenic
Select item 823289	NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser)	BRIP1 (T1082S)	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 823225	NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)	BRIP1	Duplication (nonsense)	Malignant tumor of breast +3 more	GLikely pathogenic
Select item 530304	NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)	BRIP1 (L1077*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +2 more	GLikely pathogenic
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 407856	NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)	BRIP1 (S1070*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GLikely pathogenic
Select item 461046	NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)	BRIP1 (S1070fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +4 more	GLikely pathogenic
Select item 843839	NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg)	BRIP1 (C1067R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 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 231890	NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln)	BRIP1 (K1040Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 407840	NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser)	BRIP1 (N1028S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 483213	NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro)	BRIP1 (S1026P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 461134	NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)	BRIP1 (T1013I)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 186335	NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)	BRIP1 (W1002fs)	Insertion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 241647	NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)	BRIP1 (K998fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 241648	NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)	BRIP1	Deletion (frameshift variant)	not provided +6 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 530305	NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)	BRIP1 (T997I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 407863	NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)	BRIP1 (I983fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 1128307	NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)	BRIP1 (K979R)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 182336	NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)	BRIP1 (K979E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 481619	NM_032043.3(BRIP1):c.2905+3A>G	BRIP1	Single nucleotide variant (intron variant)	Fanconi anemia complementation group J +3 more	GConflicting classifications of pathogenicity
Select item 142732	NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)	BRIP1 (K968E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2140829	NM_032043.3(BRIP1):c.2899del (p.Glu967fs)	BRIP1 (E967fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 530287	NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)	BRIP1 (E967K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 1797326	NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)	BRIP1 (R965G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 187210	NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)	BRIP1 (L958Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 186600	NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu)	BRIP1 (P957L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 650655	NM_032043.3(BRIP1):c.2831A>C (p.Gln944Pro)	BRIP1 (Q944P)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 230586	NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg)	BRIP1 (Q944R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
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 582743	NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg)	BRIP1 (C942R)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 838656	NM_032043.3(BRIP1):c.2809G>T (p.Asp937Tyr)	BRIP1 (D937Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 439026	NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)	BRIP1 (F934L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 1405202	NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu)	BRIP1 (P931L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 580358	NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser)	BRIP1 (P931S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1796007	NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)	BRIP1 (S930*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
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 627900	NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro)	BRIP1 (S930P)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
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 141576	NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val)	BRIP1 (L909V)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 241642	NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	BRIP1	Deletion (nonsense)	Familial ovarian cancer +5 more	GPathogenic/Likely pathogenic
Select item 2007254	NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)	BRIP1 (S895F)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 926079	NM_032043.3(BRIP1):c.2662C>G (p.His888Asp)	BRIP1 (H888D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 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 1364505	NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys)	BRIP1 (E883K)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 407799	NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)	BRIP1 (Q869R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 568994	NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)	BRIP1 (Q869*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GPathogenic/Likely pathogenic
Select item 186015	NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)	BRIP1 (R865Q)	Single nucleotide variant (missense variant)	BRIP1-related disorder +5 more	GUncertain significance
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 233509	NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg)	BRIP1 (W863R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 949645	NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)	BRIP1 (S861fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 187562	NM_032043.3(BRIP1):c.2582C>G (p.Ser861Cys)	BRIP1 (S861C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 936533	NM_032043.3(BRIP1):c.2576-1G>T	BRIP1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +2 more	GLikely pathogenic
Select item 224527	NM_032043.3(BRIP1):c.2576-2A>G	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +2 more	GLikely pathogenic
Select item 654687	NM_032043.3(BRIP1):c.2575+6A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 649031	NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)	BRIP1 (I857V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
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

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