ClinVar Miner

List of variants reported as pathogenic for Breast-ovarian cancer, familial 2 by Counsyl

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ClinVar version:
Total variants: 140
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HGVS dbSNP
NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397Leufs) rs397515635
NM_000059.3(BRCA2):c.1257delT (p.Cys419Trpfs) rs80359272
NM_000059.3(BRCA2):c.1310_1313delAAGA (p.Lys437Ilefs) rs80359277
NM_000059.3(BRCA2):c.1327G>T (p.Glu443Ter) rs397507579
NM_000059.3(BRCA2):c.1670T>G (p.Leu557Ter) rs80358452
NM_000059.3(BRCA2):c.1755_1759delGAAAA (p.Lys585Asnfs) rs80359302
NM_000059.3(BRCA2):c.1773_1776delTTAT (p.Ile591Metfs) rs80359304
NM_000059.3(BRCA2):c.1796_1800delCTTAT (p.Ser599Terfs) rs276174813
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs397507277
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1929delG (p.Arg645Glufs) rs80359316
NM_000059.3(BRCA2):c.2330dupA (p.Asp777Glufs) rs80359328
NM_000059.3(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.3(BRCA2):c.2376C>A (p.Tyr792Ter) rs80358503
NM_000059.3(BRCA2):c.2435dupA (p.Asn812Lysfs) rs80359329
NM_000059.3(BRCA2):c.262_263delCT (p.Leu88Alafs) rs276174825
NM_000059.3(BRCA2):c.26delC (p.Pro9Glnfs) rs80359343
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.2808delA (p.Lys936Asnfs) rs398122753
NM_000059.3(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533
NM_000059.3(BRCA2):c.2957_2958insG (p.Asn986Lysfs) rs1555282969
NM_000059.3(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.3(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556
NM_000059.3(BRCA2):c.3158T>G (p.Leu1053Ter) rs41293477
NM_000059.3(BRCA2):c.3170_3174delAGAAA (p.Lys1057Thrfs) rs80359373
NM_000059.3(BRCA2):c.3295delT (p.Ser1099Glnfs) rs80359383
NM_000059.3(BRCA2):c.3500_3501delTA (p.Ile1167Asnfs) rs80359387
NM_000059.3(BRCA2):c.3599_3600delGT (p.Cys1200Terfs) rs80359391
NM_000059.3(BRCA2):c.3680_3681delTG (p.Leu1227Glnfs) rs80359395
NM_000059.3(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620
NM_000059.3(BRCA2):c.3847_3848delGT (p.Val1283Lysfs) rs80359405
NM_000059.3(BRCA2):c.3860delA (p.Asn1287Ilefs) rs80359406
NM_000059.3(BRCA2):c.3860dupA (p.Asn1287Lysfs) rs80359406
NM_000059.3(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638
NM_000059.3(BRCA2):c.396T>A (p.Cys132Ter) rs397507320
NM_000059.3(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337Ilefs) rs878853577
NM_000059.3(BRCA2):c.4037_4038delCT (p.Thr1346Serfs) rs80359421
NM_000059.3(BRCA2):c.4131_4132ins6
NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.3(BRCA2):c.4398_4402delACATT (p.Leu1466Phefs) rs80359444
NM_000059.3(BRCA2):c.4415_4418delAGAA (p.Lys1472Thrfs) rs397507333
NM_000059.3(BRCA2):c.4449delA (p.Asp1484Thrfs) rs80359448
NM_000059.3(BRCA2):c.462_463delAA (p.Asp156Terfs) rs80359459
NM_000059.3(BRCA2):c.4631delA (p.Asn1544Thrfs) rs80359460
NM_000059.3(BRCA2):c.4638delT (p.Phe1546Leufs) rs80359462
NM_000059.3(BRCA2):c.476-2A>G rs81002853
NM_000059.3(BRCA2):c.4876_4877delAA (p.Asn1626Serfs) rs80359470
NM_000059.3(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711
NM_000059.3(BRCA2):c.4935delA (p.Glu1646Lysfs) rs80359472
NM_000059.3(BRCA2):c.4936_4939delGAAA (p.Glu1646Glnfs) rs80359473
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) rs80359479
NM_000059.3(BRCA2):c.5130_5133delTGTA (p.Tyr1710Terfs) rs80359484
NM_000059.3(BRCA2):c.5164_5165delAG (p.Ser1722Tyrfs) rs80359490
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.518delG (p.Gly173Valfs) rs80359492
NM_000059.3(BRCA2):c.5238dupT (p.Asn1747Terfs) rs80359499
NM_000059.3(BRCA2):c.5279C>G (p.Ser1760Ter) rs80358751
NM_000059.3(BRCA2):c.5290_5291delTC (p.Ser1764Lysfs) rs80359503
NM_000059.3(BRCA2):c.5350_5351delAA (p.Asn1784Hisfs) rs80359507
NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs) rs80359507
NM_000059.3(BRCA2):c.5434G>T (p.Glu1812Ter) rs80358767
NM_000059.3(BRCA2):c.5471dupA (p.Asn1824Lysfs) rs80359515
NM_000059.3(BRCA2):c.5576_5579delTTAA (p.Ile1859Lysfs) rs80359520
NM_000059.3(BRCA2):c.5583dupA (p.Val1862Serfs) rs397507790
NM_000059.3(BRCA2):c.5614A>T (p.Lys1872Ter) rs80358783
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5681dupA (p.Tyr1894Terfs) rs80359527
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.3(BRCA2):c.5722_5723delCT (p.Leu1908Argfs) rs80359530
NM_000059.3(BRCA2):c.574_575delAT (p.Met192Valfs) rs80359533
NM_000059.3(BRCA2):c.5796_5797delTA (p.His1932Glnfs) rs80359537
NM_000059.3(BRCA2):c.5799_5802delCCAA (p.Asn1933Lysfs) rs80359538
NM_000059.3(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.3(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6079dupA (p.Arg2027Lysfs) rs397507826
NM_000059.3(BRCA2):c.6082_6086delGAAGA (p.Glu2028Lysfs) rs80359558
NM_000059.3(BRCA2):c.6124C>T (p.Gln2042Ter) rs80358851
NM_000059.3(BRCA2):c.6198_6199delTT (p.Ser2067Hisfs) rs80359564
NM_000059.3(BRCA2):c.6275_6276delTT (p.Leu2092Profs) 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.6397dupT (p.Ser2133Phefs) rs431825342
NM_000059.3(BRCA2):c.6405_6409delCTTAA (p.Asn2135Lysfs) rs80359584
NM_000059.3(BRCA2):c.6450dupA (p.Val2151Serfs) rs80359594
NM_000059.3(BRCA2):c.6486_6489delACAA (p.Lys2162Asnfs) rs80359598
NM_000059.3(BRCA2):c.6490C>T (p.Gln2164Ter) rs397507860
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.6591_6592delTG (p.Glu2198Asnfs) rs80359605
NM_000059.3(BRCA2):c.6644_6647delACTC (p.Tyr2215Serfs) rs80359616
NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.3(BRCA2):c.67+2T>C rs81002885
NM_000059.3(BRCA2):c.6833_6837delTCTTA (p.Ile2278Serfs) rs80359626
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.7069_7070delCT (p.Leu2357Valfs) rs80359636
NM_000059.3(BRCA2):c.7180A>T (p.Arg2394Ter) rs80358946
NM_000059.3(BRCA2):c.7251_7252delCA (p.His2417Glnfs) rs397507907
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.755_758delACAG (p.Asp252Valfs) rs80359659
NM_000059.3(BRCA2):c.7618-1G>A rs397507389
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
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.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.7913_7917delTTCCT (p.Phe2638Terfs) rs80359686
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.7977-1G>C rs81002874
NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.3(BRCA2):c.8130delT (p.Ser2710Argfs) rs80359696
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8340_8343delTAAC (p.Asn2781Valfs) rs80359707
NM_000059.3(BRCA2):c.8487+1G>A rs81002798
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8504C>A (p.Ser2835Ter) rs80359102
NM_000059.3(BRCA2):c.8537_8538delAG (p.Glu2846Glyfs) rs80359714
NM_000059.3(BRCA2):c.8548_8551delGAAG (p.Glu2850Glnfs) rs397507406
NM_000059.3(BRCA2):c.8594dupT (p.Leu2865Phefs) rs80359721
NM_000059.3(BRCA2):c.8869C>T (p.Gln2957Ter) rs276174913
NM_000059.3(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.3(BRCA2):c.8930delA (p.Tyr2977Phefs) rs869320799
NM_000059.3(BRCA2):c.8951C>G (p.Ser2984Ter) rs80359146
NM_000059.3(BRCA2):c.8953+1G>T rs81002882
NM_000059.3(BRCA2):c.9026_9030delATCAT (p.Tyr3009Serfs) rs80359741
NM_000059.3(BRCA2):c.9097delA (p.Thr3033Leufs) rs397507419
NM_000059.3(BRCA2):c.9097dupA (p.Thr3033Asnfs) rs397507419
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) rs28897756
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9195_9196delTCinsAT (p.Phe3065_Gln3066delinsLeuTer) rs876659047
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9294C>A (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.9403delC (p.Leu3135Phefs) rs80359760
NM_000059.3(BRCA2):c.9435_9436delGT (p.Ser3147Cysfs) rs80359763

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