ClinVar Miner

List of variants in gene BRIP1 reported as likely pathogenic

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Gene type:
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Total variants: 125
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HGVS dbSNP
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.10:g.(?_59938802)_(59938906_?)del
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1124_1125CA[1] (p.Gln376fs) rs587780224
NM_032043.2(BRIP1):c.1140+1G>A rs1555607628
NM_032043.2(BRIP1):c.1156A>T (p.Lys386Ter) rs730881635
NM_032043.2(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.124_127TGTT[1] (p.Leu43fs) rs1064794202
NM_032043.2(BRIP1):c.1312del (p.Leu438fs) rs1064795413
NM_032043.2(BRIP1):c.1340+1G>A rs1555607022
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520
NM_032043.2(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.2(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.2(BRIP1):c.1473+1G>A rs748274524
NM_032043.2(BRIP1):c.1474-13_1475del15 rs1555603635
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.1475del rs869312762
NM_032043.2(BRIP1):c.14G>A (p.Trp5Ter) rs1555618738
NM_032043.2(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1629-1G>T rs1060501757
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495
NM_032043.2(BRIP1):c.1776G>A (p.Trp592Ter) rs753023295
NM_032043.2(BRIP1):c.1794+1G>C
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1936-1G>A rs1555601204
NM_032043.2(BRIP1):c.1936-1G>C
NM_032043.2(BRIP1):c.1936-2A>C
NM_032043.2(BRIP1):c.1936-2A>G rs878855143
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.205+2T>G rs1060501763
NM_032043.2(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533
NM_032043.2(BRIP1):c.206-1G>T rs1555617934
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2076_2077GT[1] (p.Cys693fs)
NM_032043.2(BRIP1):c.2097+1G>C rs786202941
NM_032043.2(BRIP1):c.2097+1G>T
NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.2(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.2(BRIP1):c.2258-1G>A rs1064793887
NM_032043.2(BRIP1):c.2273dup (p.Ala759fs) rs587780236
NM_032043.2(BRIP1):c.2330del (p.Arg777fs) rs1064794689
NM_032043.2(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
NM_032043.2(BRIP1):c.2379+1G>A rs1555590286
NM_032043.2(BRIP1):c.2379+1G>T rs1555590286
NM_032043.2(BRIP1):c.2379G>T (p.Gln793His) rs1567779336
NM_032043.2(BRIP1):c.2380-1G>A rs1567756032
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.241del (p.Glu81fs) rs1292988272
NM_032043.2(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.2(BRIP1):c.2492+1G>C rs1567755539
NM_032043.2(BRIP1):c.2492+2dupT rs587780240
NM_032043.2(BRIP1):c.2492_2492+5del
NM_032043.2(BRIP1):c.2493-1G>A rs786203451
NM_032043.2(BRIP1):c.2493-1G>C rs786203451
NM_032043.2(BRIP1):c.2493-2A>G
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.2575+1G>A rs1567737536
NM_032043.2(BRIP1):c.2575+2dup rs1555574711
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.2576-2A>G rs869312763
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.2(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.2(BRIP1):c.286_289ACAA[1] (p.Asn97fs) rs763009188
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.2(BRIP1):c.2982_2985CAAA[2] (p.Thr997fs) rs771028677
NM_032043.2(BRIP1):c.2982_2985CAAA[4] (p.Lys998fs) rs771028677
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.2(BRIP1):c.2999_3002del (p.Val1000fs) rs1567729445
NM_032043.2(BRIP1):c.3015dup (p.Asn1006Ter)
NM_032043.2(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.2(BRIP1):c.307G>T (p.Gly103Ter) rs777068696
NM_032043.2(BRIP1):c.3173_3179delinsCTC (p.Leu1058fs) rs1555572799
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.2(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.2(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000
NM_032043.2(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.2(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.2(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.2(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.2(BRIP1):c.3386_3389CTAT[1] (p.Tyr1131fs) rs778664039
NM_032043.2(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.2(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer) rs876660100
NM_032043.2(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.2(BRIP1):c.3525dup (p.Ile1176fs) rs777367075
NM_032043.2(BRIP1):c.379+1G>A rs1437158047
NM_032043.2(BRIP1):c.380-2A>G rs1567868785
NM_032043.2(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
NM_032043.2(BRIP1):c.40A>T (p.Lys14Ter) rs1555618727
NM_032043.2(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.2(BRIP1):c.472_476AAGAA[1] (p.Lys159fs) rs1555616143
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569
NM_032043.2(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.508-2A>T rs876659707
NM_032043.2(BRIP1):c.566C>G (p.Ser189Ter) rs1555615763
NM_032043.2(BRIP1):c.627+1G>A rs587780833
NM_032043.2(BRIP1):c.628-1G>A
NM_032043.2(BRIP1):c.628-5_629delTACAGCC rs1555609402
NM_032043.2(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys) rs752309409
NM_032043.2(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.2(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.2(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.2(BRIP1):c.917dup (p.Asn306fs) rs1555609121
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.2(BRIP1):c.93+1G>A rs587782047
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_032043.2(BRIP1):c.93+2T>C
NM_032043.2(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792
NM_032043.2:c.505_506insALU

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