ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 122
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HGVS dbSNP
NM_000059.3(BRCA2):c.1179T>A (p.Cys393Ter) rs786201237
NM_000059.3(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.3(BRCA2):c.125_132dup (p.Glu45fs) rs483353112
NM_000059.3(BRCA2):c.1379del (p.Asn460fs) rs1064793945
NM_000059.3(BRCA2):c.1648G>T (p.Glu550Ter) rs1555281999
NM_000059.3(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.3(BRCA2):c.1792dup (p.Thr598fs) rs886040389
NM_000059.3(BRCA2):c.1841_1842dup (p.Asn615fs) rs80359312
NM_000059.3(BRCA2):c.1846del (p.Cys616fs) rs1566224496
NM_000059.3(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.3(BRCA2):c.2176del (p.Val726fs) rs1555282499
NM_000059.3(BRCA2):c.2251dup (p.Thr751fs) rs886040416
NM_000059.3(BRCA2):c.2253_2254del (p.Asp752fs) rs398122744
NM_000059.3(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.3(BRCA2):c.2658_2659del (p.Asn886fs) rs397507291
NM_000059.3(BRCA2):c.2687_2688insGA (p.Asn896fs) rs1555282795
NM_000059.3(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.3(BRCA2):c.2989_2990del (p.Leu997fs) rs1555282990
NM_000059.3(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.3(BRCA2):c.3055_3056CT[2] (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.3(BRCA2):c.3076_3077del (p.Lys1026fs) rs1057517566
NM_000059.3(BRCA2):c.3098_3099AT[1] (p.Asp1033_Ile1034insTer) rs1555283051
NM_000059.3(BRCA2):c.3273_3276del (p.Leu1091fs) rs80359382
NM_000059.3(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.3(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.3(BRCA2):c.3479_3480GA[3] (p.Asp1161fs) rs878853569
NM_000059.3(BRCA2):c.3649del (p.Arg1217fs) rs864622134
NM_000059.3(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.3(BRCA2):c.3738_3741del (p.Asn1246fs) rs1555283381
NM_000059.3(BRCA2):c.376C>T (p.Gln126Ter) rs1555280859
NM_000059.3(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.3(BRCA2):c.3935dup (p.Asn1312fs) rs1566229411
NM_000059.3(BRCA2):c.3937del (p.Tyr1313fs) rs1566229421
NM_000059.3(BRCA2):c.3968_3971del (p.Lys1323fs) rs886040505
NM_000059.3(BRCA2):c.3972T>G (p.Tyr1324Ter) rs1131692119
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337fs) rs878853577
NM_000059.3(BRCA2):c.4037del (p.Thr1346fs) rs1162394508
NM_000059.3(BRCA2):c.403_410dup (p.Cys138_Leu139insTer) rs1566218217
NM_000059.3(BRCA2):c.4092_4093insAA (p.Cys1365fs) rs876658329
NM_000059.3(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.3(BRCA2):c.4263dup (p.Glu1422Ter) rs1555283664
NM_000059.3(BRCA2):c.4270dup (p.Ser1424fs) rs1555283672
NM_000059.3(BRCA2):c.4305_4309del (p.Asn1435fs) rs1566230041
NM_000059.3(BRCA2):c.4310_4311GT[3] (p.Ala1439fs) rs1064794168
NM_000059.3(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.3(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.3(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.3(BRCA2):c.4822G>T (p.Glu1608Ter) rs1566231194
NM_000059.3(BRCA2):c.4894_4895del (p.Ser1632fs) rs397507748
NM_000059.3(BRCA2):c.4921G>T (p.Glu1641Ter) rs1566231364
NM_000059.3(BRCA2):c.5076del (p.Trp1692fs) rs876660524
NM_000059.3(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.3(BRCA2):c.5200dup (p.Glu1734fs) rs1555284103
NM_000059.3(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs) rs483353082
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs) rs1566232310
NM_000059.3(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.3(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.3(BRCA2):c.6116T>G (p.Leu2039Ter) rs1555284559
NM_000059.3(BRCA2):c.6155dup (p.Ser2053fs) rs1566234047
NM_000059.3(BRCA2):c.6235_6236GT[1] (p.Leu2080fs) rs1593907958
NM_000059.3(BRCA2):c.632-1dup rs1566220586
NM_000059.3(BRCA2):c.6373_6374delinsG (p.Thr2125fs) rs1555284655
NM_000059.3(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.3(BRCA2):c.6437_6440dup (p.His2147fs) rs397507855
NM_000059.3(BRCA2):c.6487C>T (p.Gln2163Ter) rs398122559
NM_000059.3(BRCA2):c.6624_6625TA[3] (p.Glu2210Ter) rs80359610
NM_000059.3(BRCA2):c.6762del (p.Phe2254fs) rs80359624
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.6976del (p.Ser2326fs) rs886040679
NM_000059.3(BRCA2):c.6986_6990del (p.Pro2329fs) rs1064795172
NM_000059.3(BRCA2):c.6999dup (p.Pro2334fs) rs1566237861
NM_000059.3(BRCA2):c.7007+1G>T rs397507891
NM_000059.3(BRCA2):c.7097dup (p.Thr2367fs) rs786202600
NM_000059.3(BRCA2):c.7110dup (p.Ser2371fs) rs80359638
NM_000059.3(BRCA2):c.7147dup (p.Tyr2383fs) rs878853599
NM_000059.3(BRCA2):c.7186_7187del (p.Leu2396fs) rs1555286031
NM_000059.3(BRCA2):c.718_719del (p.Leu240fs) rs1555281459
NM_000059.3(BRCA2):c.7274del (p.Asn2425fs) rs1566241084
NM_000059.3(BRCA2):c.7403dup (p.Thr2469fs) rs1555286105
NM_000059.3(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.3(BRCA2):c.7419T>A (p.Cys2473Ter) rs1555286120
NM_000059.3(BRCA2):c.7423G>T (p.Glu2475Ter) rs1566241336
NM_000059.3(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.3(BRCA2):c.7568dup (p.Lys2524fs) rs1566242125
NM_000059.3(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8332-1G>T rs397507979
NM_000059.3(BRCA2):c.8501del (p.Thr2834fs) rs80359712
NM_000059.3(BRCA2):c.8868dup (p.Gln2957fs) rs1555288386
NM_000059.3(BRCA2):c.9254del (p.Thr3085fs) rs1555288587
NM_000059.3(BRCA2):c.9256_9256+1delinsTA rs587781422
NM_000059.3(BRCA2):c.9286dup (p.Glu3096fs) rs778782209
NM_000059.3(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter) rs1555289602
NM_000059.3(BRCA2):c.9501+1G>T rs397508058
NM_000059.3(BRCA2):c.9766_9770del (p.Glu3256fs) rs1555289953
NM_000059.3(BRCA2):c.9770_9771del (p.Lys3257fs) rs1566260997
NM_000059.4(BRCA2):c.1233del (p.Leu413fs)
NM_000059.4(BRCA2):c.1478del (p.Pro493fs)
NM_000059.4(BRCA2):c.2106del (p.Thr703fs)
NM_000059.4(BRCA2):c.2886_3114del (p.Ile963fs)
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
NM_000059.4(BRCA2):c.3061del (p.Glu1021fs)
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.517-2A>T
NM_000059.4(BRCA2):c.534del (p.Lys178fs)
NM_000059.4(BRCA2):c.5613del (p.Ser1871fs)
NM_000059.4(BRCA2):c.6045del (p.Leu2015fs)
NM_000059.4(BRCA2):c.6226del (p.Val2076fs)
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs)
NM_000059.4(BRCA2):c.6547_6550del (p.Glu2183fs)
NM_000059.4(BRCA2):c.68-2A>G rs769152395
NM_000059.4(BRCA2):c.707del (p.His236fs)
NM_000059.4(BRCA2):c.7270dup (p.Arg2424fs)
NM_000059.4(BRCA2):c.7436-1G>T
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter)
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs) rs397507419
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198

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