ClinVar Miner

List of variants reported as pathogenic for Breast-ovarian cancer, familial 2 by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 67
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HGVS dbSNP
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.1147del (p.Ile383fs) rs80359265
NM_000059.3(BRCA2):c.115del (p.Ala39fs) rs397507573
NM_000059.3(BRCA2):c.1202C>G (p.Ser401Ter) rs80358413
NM_000059.3(BRCA2):c.1294_1295GA[1] (p.Asn433fs) rs80359276
NM_000059.3(BRCA2):c.1302_1305AAGA[2] (p.Lys437fs) rs80359277
NM_000059.3(BRCA2):c.1899_1900insTT (p.Ala634fs) rs397507613
NM_000059.3(BRCA2):c.260_261CT[1] (p.Leu88fs) rs276174825
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.3593del (p.Asn1198fs) rs397507677
NM_000059.3(BRCA2):c.3772del (p.Pro1257_Ile1258insTer) rs397507684
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.3(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.3(BRCA2):c.4556del (p.Pro1519fs) rs397507728
NM_000059.3(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.3(BRCA2):c.5073del (p.Lys1691fs) rs80359479
NM_000059.3(BRCA2):c.516+1G>T rs397507762
NM_000059.3(BRCA2):c.516+2T>G rs397507764
NM_000059.3(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.3(BRCA2):c.5286T>A (p.Tyr1762Ter) rs80358754
NM_000059.3(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
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.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.5969del (p.Asp1990fs) rs886038135
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.6547G>T (p.Glu2183Ter) rs397507866
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.3(BRCA2):c.6634_6637del (p.Cys2212fs) rs397507871
NM_000059.3(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616
NM_000059.3(BRCA2):c.6816_6817del (p.Gly2274fs) rs397507886
NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.3(BRCA2):c.7092del (p.Glu2364fs) rs397507896
NM_000059.3(BRCA2):c.7261C>T (p.Gln2421Ter) rs397507908
NM_000059.3(BRCA2):c.7417_7418TG[1] (p.Cys2473_Glu2474delinsTer) rs80359651
NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981
NM_000059.3(BRCA2):c.7563_7564CT[2] (p.Leu2523fs) rs80359664
NM_000059.3(BRCA2):c.7617+1G>T rs397507922
NM_000059.3(BRCA2):c.7617+2T>G rs81002843
NM_000059.3(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.3(BRCA2):c.7806-1G>T rs81002860
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.7977-2del rs397507947
NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8178T>A (p.Tyr2726Ter) rs761595544
NM_000059.3(BRCA2):c.8632+1G>T rs397507997
NM_000059.3(BRCA2):c.8754+1G>T rs397508006
NM_000059.3(BRCA2):c.8754+3G>C rs397508007
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) rs28897756
NM_000059.3(BRCA2):c.9118-2A>G rs81002862
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9227del (p.Gly3076fs) 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.9403del (p.Leu3135fs) rs80359760
NM_000059.3(BRCA2):c.952A>T (p.Lys318Ter) rs397508060
NM_000059.3(BRCA2):c.9649-1G>T rs1555289898
NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773

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