ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic for Familial cancer of breast

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Total variants: 86
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HGVS dbSNP
NM_000059.3(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.3(BRCA2):c.1057del (p.Ser353fs) rs879255322
NM_000059.3(BRCA2):c.1059del (p.Phe354fs) rs1555281715
NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer) rs879255323
NM_000059.3(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.3(BRCA2):c.1190_1191insTTAG (p.Gln397delinsHisTer) rs80359266
NM_000059.3(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.3(BRCA2):c.1401_1402GA[2] (p.Arg468_Asp469insTer) rs397507586
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.3(BRCA2):c.1754del (p.Lys585fs) rs80359301
NM_000059.3(BRCA2):c.1763_1766del (p.Asn588fs) rs80359303
NM_000059.3(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.3(BRCA2):c.1821dup (p.Asp608fs) rs879255327
NM_000059.3(BRCA2):c.2095_2096del (p.Gln699fs) rs886040403
NM_000059.3(BRCA2):c.2701del (p.Ala902fs) rs397507637
NM_000059.3(BRCA2):c.2738_2742ACTTG[1] (p.Thr915fs) rs786204752
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533
NM_000059.3(BRCA2):c.3195_3198del (p.Asn1066fs) rs80359375
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3280A>T (p.Lys1094Ter) rs690016539
NM_000059.3(BRCA2):c.3291dup (p.Asn1098Ter) rs690016540
NM_000059.3(BRCA2):c.3293del (p.Asn1098fs) rs690016541
NM_000059.3(BRCA2):c.3462del (p.Thr1155fs) rs1555283256
NM_000059.3(BRCA2):c.3641del (p.Val1214fs) rs690016542
NM_000059.3(BRCA2):c.3717del (p.Lys1239fs) rs80359401
NM_000059.3(BRCA2):c.3820_3823del (p.Phe1273_Lys1274insTer) rs730881620
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.3(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638
NM_000059.3(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.3(BRCA2):c.4277del (p.Thr1426fs) rs730881608
NM_000059.3(BRCA2):c.4738_4739TG[3] (p.Glu1581fs) rs864622401
NM_000059.3(BRCA2):c.4769del (p.Lys1590fs) rs879255328
NM_000059.3(BRCA2):c.49_50AC[1] (p.Arg18fs) rs80359483
NM_000059.3(BRCA2):c.5112_5115AATA[1] (p.Asn1706fs) rs276174853
NM_000059.3(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.3(BRCA2):c.5222_5225del (p.Ser1741fs) rs80359498
NM_000059.3(BRCA2):c.5364dup (p.Lys1789fs) rs587779364
NM_000059.3(BRCA2):c.5558_5559GT[1] (p.Val1854fs) rs397507787
NM_000059.3(BRCA2):c.5611_5615AGTAA[1] (p.Lys1872fs) rs80359525
NM_000059.3(BRCA2):c.5644_5647del (p.Ser1882fs) rs1555284326
NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.5718_5719CT[2] (p.Leu1908fs) rs80359530
NM_000059.3(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.5980C>T (p.Gln1994Ter) rs80358831
NM_000059.3(BRCA2):c.6267_6270dup (p.Ser2091delinsAlaTer) rs730881611
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.6462_6463TC[2] (p.Ser2156fs) rs80359596
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6645C>G (p.Tyr2215Ter) rs80358892
NM_000059.3(BRCA2):c.670_673dup (p.Thr225fs) rs730881601
NM_000059.3(BRCA2):c.682-1G>T rs81002831
NM_000059.3(BRCA2):c.6941del (p.Thr2314fs) rs80359628
NM_000059.3(BRCA2):c.6998dup (p.Pro2334fs) rs754611265
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.3(BRCA2):c.7060C>T (p.Gln2354Ter) rs80358936
NM_000059.3(BRCA2):c.7209_7212delinsGG (p.Lys2404fs) rs876659770
NM_000059.3(BRCA2):c.7380_7381insG (p.Asn2461fs) rs730881612
NM_000059.3(BRCA2):c.7508_7521delinsG (p.Val2503fs) rs879255331
NM_000059.3(BRCA2):c.7618-1G>A rs397507389
NM_000059.3(BRCA2):c.7671_7672AG[1] (p.Glu2558fs) rs80359672
NM_000059.3(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.3(BRCA2):c.787dup (p.Ser263fs) rs690016538
NM_000059.3(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.3(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_000059.3(BRCA2):c.8002A>T (p.Arg2668Ter) rs276174900
NM_000059.3(BRCA2):c.8087T>A (p.Leu2696Ter) rs80359050
NM_000059.3(BRCA2):c.8490G>A (p.Trp2830Ter) rs587776351
NM_000059.3(BRCA2):c.8548del (p.Glu2850fs) rs1555287766
NM_000059.3(BRCA2):c.8655dup (p.Pro2886fs) rs1135401927
NM_000059.3(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.3(BRCA2):c.8930del (p.Tyr2977fs) rs869320799
NM_000059.3(BRCA2):c.9097dupA (p.Thr3033Asnfs) rs397507419
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.925del (p.Ser309fs) rs886038058
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.956dupA (p.Asn319Lysfs) rs80359770
NM_000059.3(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619
NM_000059.3(BRCA2):c.994del (p.Ile332fs) rs80359777
NM_000059.3:c.3847_3848delTG rs80359405

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