ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Department of Pathology and Laboratory Medicine,Sinai Health System

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_000059.3(BRCA2):c.1103C>A (p.Ser368Ter) rs80358407
NM_000059.3(BRCA2):c.1265del (p.Asn422fs) rs80359273
NM_000059.3(BRCA2):c.1302_1305AAGA[2] (p.Lys437fs) rs80359277
NM_000059.3(BRCA2):c.1333dup (p.Ser445fs) rs1555281841
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1560_1561del (p.Ser521fs) rs886040374
NM_000059.3(BRCA2):c.1670T>G (p.Leu557Ter) rs80358452
NM_000059.3(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.1815dupA (p.Pro606Thrfs) rs80359310
NM_000059.3(BRCA2):c.1832C>A (p.Ser611Ter) rs80358474
NM_000059.3(BRCA2):c.1889_1890dup (p.Phe631fs) rs1555282148
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.3(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.3(BRCA2):c.2409T>G (p.Tyr803Ter) rs80358504
NM_000059.3(BRCA2):c.246del (p.Glu83fs) rs397507630
NM_000059.3(BRCA2):c.2588dupA (p.Asn863Lysfs) rs80359335
NM_000059.3(BRCA2):c.2653_2656del (p.Asp885fs) rs80359340
NM_000059.3(BRCA2):c.26del (p.Pro9fs) rs80359343
NM_000059.3(BRCA2):c.274C>T (p.Gln92Ter) rs80358529
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.2834_2835del (p.Lys945fs) rs80359356
NM_000059.3(BRCA2):c.2957dupA (p.Asn986Lysfs) rs80359365
NM_000059.3(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.3(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.3(BRCA2):c.3308del (p.Asn1102_Leu1103insTer) rs1555283160
NM_000059.3(BRCA2):c.3362C>G (p.Ser1121Ter) rs80358579
NM_000059.3(BRCA2):c.3454_3455del (p.Leu1152fs) rs1555283251
NM_000059.3(BRCA2):c.3481_3491del (p.Asp1161fs) rs1555283262
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.3(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs) rs1555283361
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337fs) rs878853577
NM_000059.3(BRCA2):c.4211C>G (p.Ser1404Ter) rs41293489
NM_000059.3(BRCA2):c.426-2A>G rs398122779
NM_000059.3(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.3(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.3(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.3(BRCA2):c.4423del (p.Met1475fs) rs80359447
NM_000059.3(BRCA2):c.4552del (p.Glu1518fs) rs398122783
NM_000059.3(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.3(BRCA2):c.4677del (p.Phe1559fs) rs1064794708
NM_000059.3(BRCA2):c.4691dup (p.Thr1566fs) rs786204209
NM_000059.3(BRCA2):c.470_474del (p.Lys157fs) rs80359463
NM_000059.3(BRCA2):c.4738_4739TG[3] (p.Glu1581fs) rs864622401
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.49_50AC[1] (p.Arg18fs) rs80359483
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) rs80359479
NM_000059.3(BRCA2):c.5101C>T (p.Gln1701Ter) rs397507758
NM_000059.3(BRCA2):c.5112_5115AATA[1] (p.Asn1706fs) rs276174853
NM_000059.3(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.3(BRCA2):c.5158dupT (p.Ser1720Phefs) rs80359489
NM_000059.3(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.517-?_631+?del
NM_000059.3(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.3(BRCA2):c.5238dupT (p.Asn1747Terfs) rs80359499
NM_000059.3(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs) rs80359507
NM_000059.3(BRCA2):c.536_537AT[3] (p.Ser181fs) rs80359510
NM_000059.3(BRCA2):c.5471dup (p.Asn1824fs) rs80359515
NM_000059.3(BRCA2):c.5482_5486del (p.Lys1828fs) rs80359516
NM_000059.3(BRCA2):c.5557del (p.Cys1853fs) rs587782011
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.3(BRCA2):c.5593_5594AT[1] (p.Phe1866fs) rs80359524
NM_000059.3(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.3(BRCA2):c.5656C>T (p.Gln1886Ter) rs80358790
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.3(BRCA2):c.5718_5719CT[2] (p.Leu1908fs) rs80359530
NM_000059.3(BRCA2):c.5773C>T (p.Gln1925Ter) rs80358806
NM_000059.3(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6024dupG (p.Gln2009Alafs) rs80359554
NM_000059.3(BRCA2):c.6059_6062del (p.Glu2020fs) rs398122546
NM_000059.3(BRCA2):c.6065C>G (p.Ser2022Ter) rs80358843
NM_000059.3(BRCA2):c.6082_6086del (p.Glu2028fs) rs80359558
NM_000059.3(BRCA2):c.610del (p.Ser205fs) rs80359560
NM_000059.3(BRCA2):c.6154del (p.Ser2052fs) rs80359562
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.3(BRCA2):c.632-1G>A rs81002820
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.6450dup (p.Val2151fs) rs80359594
NM_000059.3(BRCA2):c.6462_6463TC[2] (p.Ser2156fs) rs80359596
NM_000059.3(BRCA2):c.6462_6463TC[3] (p.Gln2157fs) rs80359596
NM_000059.3(BRCA2):c.6462_6463TC[5] (p.Gln2157fs) rs80359596
NM_000059.3(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.3(BRCA2):c.6643del (p.Tyr2215fs) rs80359614
NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.3(BRCA2):c.68-1G>T rs1060502376
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.7008-2A>T rs81002823
NM_000059.3(BRCA2):c.700del (p.Ser234fs) rs80359630
NM_000059.3(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.3(BRCA2):c.7183del (p.His2395fs) rs397507900
NM_000059.3(BRCA2):c.745_757del (p.Ser249fs) rs1555281467
NM_000059.3(BRCA2):c.7467dup (p.Ile2490fs) rs397507918
NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972
NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981
NM_000059.3(BRCA2):c.7580dup (p.Gly2528fs) rs1555286298
NM_000059.3(BRCA2):c.7595_7596insTT (p.Ala2534fs) rs80359666
NM_000059.3(BRCA2):c.7617+1G>A rs397507922
NM_000059.3(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.3(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003
NM_000059.3(BRCA2):c.7777G>T (p.Gly2593Ter) rs587782028
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000059.3(BRCA2):c.7811_7812TG[2] (p.Cys2605_Asp2606delinsTer) rs886040730
NM_000059.3(BRCA2):c.7856G>A (p.Trp2619Ter) rs397507941
NM_000059.3(BRCA2):c.7857G>A (p.Trp2619Ter) rs80359011
NM_000059.3(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7908T>A (p.Cys2636Ter) rs80359016
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.8002A>T (p.Arg2668Ter) rs276174900
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8332-2A>G rs587782774
NM_000059.3(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.3(BRCA2):c.8533_8534AG[1] (p.Glu2846fs) rs80359714
NM_000059.3(BRCA2):c.8533_8534AG[2] (p.Glu2846fs) rs80359714
NM_000059.3(BRCA2):c.8572C>T (p.Gln2858Ter) rs80359112
NM_000059.3(BRCA2):c.8575del (p.Gln2859fs) rs80359718
NM_000059.3(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.3(BRCA2):c.8680del (p.Gln2894fs) rs397507410
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.3(BRCA2):c.8954-2A>C rs1135401928
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.8961_8964del (p.Ser2988fs) rs80359734
NM_000059.3(BRCA2):c.9014_9017dup (p.Tyr3006Ter) rs1555288462
NM_000059.3(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.3(BRCA2):c.9097dupA (p.Thr3033Asnfs) rs397507419
NM_000059.3(BRCA2):c.9103dup (p.Tyr3035fs) rs1555288507
NM_000059.3(BRCA2):c.9118-1G>C rs886040950
NM_000059.3(BRCA2):c.9235del (p.Val3079fs) rs397507422
NM_000059.3(BRCA2):c.9246dup (p.Lys3083fs) rs886038189
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.9350_9351AT[1] (p.Met3118fs) rs786203318
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.3(BRCA2):c.9413dup (p.Leu3138fs) rs876659435
NM_000059.3(BRCA2):c.9433_9434GT[1] (p.Ser3147fs) rs80359763
NM_000059.3(BRCA2):c.9666del (p.Cys3222fs) rs80359772
NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773
NM_000059.3(BRCA2):c.994del (p.Ile332fs) rs80359777

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