ClinVar Miner

List of variants in gene BRCA2 reported by Department of Medical Genetics,Oslo University Hospital

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP
NC_000013.11:g.(32316528_32319076)_(32319326_32325075)del
NG_012772.3:g.(53055_59922)_(66313_68837)del
NG_012772.3:g.(60079_60476)_(60622_66190)del
NG_012772.3:g.(60079_60476)_(60622_66190)dup
NM_000059.3(BRCA2):c.1296_1297delGA (p.Asn433Glnfs) rs80359276
NM_000059.3(BRCA2):c.1429delC (p.His477Ilefs) rs1555281909
NM_000059.3(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1642C>T (p.Gln548Ter) rs398122729
NM_000059.3(BRCA2):c.1658T>G (p.Leu553Ter) rs876659627
NM_000059.3(BRCA2):c.171C>G (p.Tyr57Ter) rs201523522
NM_000059.3(BRCA2):c.171delC (p.Tyr57Terfs) rs1555280367
NM_000059.3(BRCA2):c.1905_1909delTTCAG (p.Asp635Glufs) rs1555282156
NM_000059.3(BRCA2):c.1945C>T (p.Gln649Ter) rs398122735
NM_000059.3(BRCA2):c.196C>T (p.Gln66Ter) rs397507617
NM_000059.3(BRCA2):c.2156_2159delATGA (p.Asn719Ilefs) rs1555282489
NM_000059.3(BRCA2):c.2636_2637delCT (p.Ser879Terfs) rs276174826
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.3158T>G (p.Leu1053Ter) rs41293477
NM_000059.3(BRCA2):c.316+1G>T rs397507303
NM_000059.3(BRCA2):c.3307_3308dup (p.Leu1103Phefs) rs1555283160
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.3596_3599delACTG (p.Asp1199Valfs) rs886040484
NM_000059.3(BRCA2):c.3720_3721delGT (p.Phe1241Terfs) rs1555283373
NM_000059.3(BRCA2):c.3751dupA (p.Thr1251Asnfs) rs397507683
NM_000059.3(BRCA2):c.3847_3848delGT (p.Val1283Lysfs) rs80359405
NM_000059.3(BRCA2):c.3860delA (p.Asn1287Ilefs) rs80359406
NM_000059.3(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.3(BRCA2):c.407delA (p.Asn136Ilefs) rs80359425
NM_000059.3(BRCA2):c.4095T>A (p.Cys1365Ter) rs80358658
NM_000059.3(BRCA2):c.4258delG (p.Asp1420Ilefs) rs80359436
NM_000059.3(BRCA2):c.469_470delAA (p.Lys157Valfs) rs397507739
NM_000059.3(BRCA2):c.4710delA (p.Glu1571Argfs) rs1555283915
NM_000059.3(BRCA2):c.4794_4797delCAAT (p.Asn1599Metfs) rs747418290
NM_000059.3(BRCA2):c.4821_4823delTGAinsC (p.Glu1608Aspfs) rs587782854
NM_000059.3(BRCA2):c.4936_4939delGAAA (p.Glu1646Glnfs) rs80359473
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) rs80359479
NM_000059.3(BRCA2):c.5157_5161delTTCAA (p.Asn1719Lysfs) rs80359488
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.5217_5223delTTTAAGT (p.Tyr1739Terfs) rs80359496
NM_000059.3(BRCA2):c.5576_5579delTTAA (p.Ile1859Lysfs) rs80359520
NM_000059.3(BRCA2):c.5577delT (p.Val1862Terfs) rs397507355
NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
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.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6034dup (p.Ser2012Phefs) rs397507823
NM_000059.3(BRCA2):c.6059_6062delAACA (p.Glu2020Valfs) rs398122546
NM_000059.3(BRCA2):c.6085_6089delGAAAA (p.Glu2029Tyrfs) rs886040635
NM_000059.3(BRCA2):c.614delG (p.Ser205Ilefs) rs1555281103
NM_000059.3(BRCA2):c.631+4A>G rs397507841
NM_000059.3(BRCA2):c.6373dupA (p.Thr2125Asnfs) rs80359577
NM_000059.3(BRCA2):c.6486_6489delACAA (p.Lys2162Asnfs) rs80359598
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.6611dup (p.Val2205Cysfs) rs1135401915
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.7234delA (p.Thr2412Leufs) rs1135401917
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.7617+1G>A rs397507922
NM_000059.3(BRCA2):c.7673_7674delAG (p.Glu2558Valfs) rs80359672
NM_000059.3(BRCA2):c.7680dupT (p.Gln2561Serfs) rs80359673
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
NM_000059.3(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.3(BRCA2):c.7829dup (p.Asp2611Glyfs) rs1555286826
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.8090_8105delGCGCAAATATATCTGA (p.Ser2697Lysfs) rs1555286989
NM_000059.3(BRCA2):c.8130delT (p.Ser2710Argfs) rs80359696
NM_000059.3(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064
NM_000059.3(BRCA2):c.8229_8243del15 (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.8323dupA (p.Met2775Asnfs) rs276174904
NM_000059.3(BRCA2):c.8331+2T>C rs398122602
NM_000059.3(BRCA2):c.8396dup (p.Pro2800Thrfs) rs1555287629
NM_000059.3(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) rs28897756
NM_000059.3(BRCA2):c.9118-2A>G rs81002862
NM_000059.3(BRCA2):c.9127G>T (p.Glu3043Ter) rs398122610
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9227delG (p.Gly3076Aspfs) rs397508040
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.9403delC (p.Leu3135Phefs) rs80359760
NM_000059.3(BRCA2):c.9523G>T (p.Glu3175Ter) rs397507430
NM_000059.3(BRCA2):c.9699_9702delTATG (p.Cys3233Trpfs) rs80359775

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