"Color Diagnostics, LLC DBA Color Health"[submitter] AND "BRIP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 630024	NM_032043.3(BRIP1):c.*17A>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 630229	NM_032043.3(BRIP1):c.*14T>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 391937	NM_032043.3(BRIP1):c.*13C>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 629377	NM_032043.3(BRIP1):c.*6C>G	BRIP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 923899	NM_032043.3(BRIP1):c.*2A>T	BRIP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 920842	NM_032043.3(BRIP1):c.*1T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 530351	NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs)	BRIP1 (K1249fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 461166	NM_032043.3(BRIP1):c.3741T>A (p.Gly1247=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 232920	NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)	BRIP1 (P1246L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GConflicting classifications of pathogenicity
Select item 569454	NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile)	BRIP1 (M1244I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 2774977	NM_032043.3(BRIP1):c.3730A>G (p.Met1244Val)	BRIP1 (M1244V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 530345	NM_032043.3(BRIP1):c.3728_3730delinsTCC (p.Gly1243_Met1244delinsValLeu)	BRIP1	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 128190	NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)	BRIP1 (G1243C)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
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 627791	NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu)	BRIP1 (K1235E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 133759	NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)	BRIP1 (F1234C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 461163	NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr)	BRIP1 (I1231T)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 231673	NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)	BRIP1 (I1231V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 491470	NM_032043.3(BRIP1):c.3686_3687del (p.Ile1229fs)	BRIP1 (I1229fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 485449	NM_032043.3(BRIP1):c.3681T>C (p.His1227=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +3 more	GLikely benign
Select item 421331	NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg)	BRIP1 (H1227R)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 241658	NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro)	BRIP1 (T1226P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 630971	NM_032043.3(BRIP1):c.3669G>A (p.Leu1223=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 230913	NM_032043.3(BRIP1):c.3667C>T (p.Leu1223=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 640730	NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val)	BRIP1 (E1222V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 461162	NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)	BRIP1 (E1222fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 483211	NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys)	BRIP1 (E1220K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186726	NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)	BRIP1 (W1217*)	Single nucleotide variant (nonsense)	not specified +5 more	GUncertain significance
Select item 141402	NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)	BRIP1 (W1217C)	Single nucleotide variant (missense variant)	Hereditary cancer +4 more	GConflicting classifications of pathogenicity
Select item 630230	NM_032043.3(BRIP1):c.3636T>C (p.Asn1212=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 574915	NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)	BRIP1 (G1211S)	Single nucleotide variant (missense variant)	not provided +3 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 926413	NM_032043.3(BRIP1):c.3613A>C (p.Lys1205Gln)	BRIP1 (K1205Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186352	NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)	BRIP1 (E1202G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2774978	NM_032043.3(BRIP1):c.3593T>C (p.Ile1198Thr)	BRIP1 (I1198T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141350	NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu)	BRIP1 (G1197E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 489836	NM_032043.3(BRIP1):c.3584_3586delinsGG (p.Leu1195fs)	BRIP1 (L1195fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1491320	NM_032043.3(BRIP1):c.3581A>T (p.Lys1194Met)	BRIP1 (K1194M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 943036	NM_032043.3(BRIP1):c.3578C>A (p.Thr1193Lys)	BRIP1 (T1193K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 920173	NM_032043.3(BRIP1):c.3578C>G (p.Thr1193Arg)	BRIP1 (T1193R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 927139	NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)	BRIP1 (I1191T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GConflicting classifications of pathogenicity
Select item 186989	NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)	BRIP1 (I1191V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 185173	NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 182337	NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)	BRIP1 (A1187T)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 229894	NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)	BRIP1 (K1186E)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 386646	NM_032043.3(BRIP1):c.3552A>G (p.Glu1184=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GLikely benign
Select item 920843	NM_032043.3(BRIP1):c.3548G>C (p.Arg1183Thr)	BRIP1 (R1183T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186891	NM_032043.3(BRIP1):c.3546C>T (p.Ala1182=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GLikely benign
Select item 461156	NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr)	BRIP1 (A1182T)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 414671	NM_032043.3(BRIP1):c.3543A>G (p.Ser1181=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 579403	NM_032043.3(BRIP1):c.3530AAG[1] (p.Glu1178del)	BRIP1 (E1178del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 461155	NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)	BRIP1 (E1178V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823885	NM_032043.3(BRIP1):c.3529A>G (p.Lys1177Glu)	BRIP1 (K1177E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 489835	NM_032043.3(BRIP1):c.3528delinsCTTT (p.Ile1176_Lys1177insPhe)	BRIP1	Indel (inframe_insertion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 216799	NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)	BRIP1 (I1176fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1732206	NM_032043.3(BRIP1):c.3516A>G (p.Glu1172=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 141812	NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr)	BRIP1 (D1169Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 925662	NM_032043.3(BRIP1):c.3504A>C (p.Lys1168Asn)	BRIP1 (K1168N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 479467	NM_032043.3(BRIP1):c.3499G>A (p.Ala1167Thr)	BRIP1 (A1167T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 530337	NM_032043.3(BRIP1):c.3493A>C (p.Ile1165Leu)	BRIP1 (I1165L)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 414658	NM_032043.3(BRIP1):c.3489T>C (p.Asp1163=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 230724	NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)	BRIP1 (A1159T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 232260	NM_032043.3(BRIP1):c.3473T>G (p.Leu1158Trp)	BRIP1 (L1158W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 823804	NM_032043.3(BRIP1):c.3467A>G (p.Asn1156Ser)	BRIP1 (N1156S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 920266	NM_032043.3(BRIP1):c.3465A>G (p.Gly1155=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 128189	NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)	BRIP1 (G1155E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2680341	NM_032043.3(BRIP1):c.3461_3462delinsAAG (p.Arg1154fs)	BRIP1 (R1154fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 386142	NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)	BRIP1 (R1154T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 136580	NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)	BRIP1	Single nucleotide variant (synonymous variant)	Neoplasm of ovary +6 more	GConflicting classifications of pathogenicity
Select item 823782	NM_032043.3(BRIP1):c.3448G>C (p.Ala1150Pro)	BRIP1 (A1150P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 823775	NM_032043.3(BRIP1):c.3441T>G (p.Asn1147Lys)	BRIP1 (N1147K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 483163	NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)	BRIP1 (N1147fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +3 more	GConflicting classifications of pathogenicity
Select item 2774979	NM_032043.3(BRIP1):c.3433G>A (p.Glu1145Lys)	BRIP1 (E1145K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 219832	NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)	BRIP1 (E1144G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +4 more	GConflicting classifications of pathogenicity
Select item 922118	NM_032043.3(BRIP1):c.3422A>G (p.Asp1141Gly)	BRIP1 (D1141G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 643619	NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala)	BRIP1 (D1141A)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 491469	NM_032043.3(BRIP1):c.3416C>T (p.Pro1139Leu)	BRIP1 (P1139L)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 489834	NM_032043.3(BRIP1):c.3413A>T (p.Asp1138Val)	BRIP1 (D1138V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 570962	NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)	BRIP1 (D1138Y)	Indel (missense variant)	not specified +4 more	GUncertain significance
Select item 491468	NM_032043.3(BRIP1):c.3411_3412inv (p.Asp1138Asn)	BRIP1 (D1138N)	Inversion (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 183702	NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 489833	NM_032043.3(BRIP1):c.3406C>T (p.Leu1136Phe)	BRIP1 (L1136F)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 489832	NM_032043.3(BRIP1):c.3403G>C (p.Glu1135Gln)	BRIP1 (E1135Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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 2774980	NM_032043.3(BRIP1):c.3396T>G (p.Phe1132Leu)	BRIP1 (F1132L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229712	NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	BRIP1 (Y1131fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group J +5 more	GConflicting classifications of pathogenicity
Select item 386141	NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)	BRIP1 (I1130T)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 461148	NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)	BRIP1 (I1130V)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 920489	NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln)	BRIP1 (E1128Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 798329	NM_032043.3(BRIP1):c.3381T>C (p.Asp1127=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GLikely benign
Select item 628914	NM_032043.3(BRIP1):c.3378A>G (p.Glu1126=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 128187	NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)	BRIP1 (E1126D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GConflicting classifications of pathogenicity
Select item 188402	NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)	BRIP1 (A1125del)	Deletion (inframe_deletion)	not specified +5 more	GUncertain significance
Select item 629477	NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)	BRIP1 (E1124fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 419472	NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly)	BRIP1 (E1124G)	Single nucleotide variant (missense variant)	not provided +3 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 2774981	NM_032043.3(BRIP1):c.3362_3363del (p.Asp1120_Phe1121insTer)	BRIP1	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 919812	NM_032043.3(BRIP1):c.3356G>A (p.Arg1119Lys)	BRIP1 (R1119K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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