ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 74
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HGVS dbSNP
NM_000059.3(BRCA2):c.1147del (p.Ile383fs) rs80359265
NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.3(BRCA2):c.1192del (p.Gln397_Leu398insTer) rs1060502403
NM_000059.3(BRCA2):c.1205del (p.Gly402fs) rs397507265
NM_000059.3(BRCA2):c.1381G>T (p.Glu461Ter) rs587782159
NM_000059.3(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.3(BRCA2):c.1763_1766del (p.Asn588fs) rs80359303
NM_000059.3(BRCA2):c.1800T>G (p.Tyr600Ter) rs80358464
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.1832C>G (p.Ser611Ter) rs80358474
NM_000059.3(BRCA2):c.18_19AG[2] (p.Arg8fs) rs397507623
NM_000059.3(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.3(BRCA2):c.2092del (p.Leu698fs) rs80359322
NM_000059.3(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.3(BRCA2):c.2368G>T (p.Glu790Ter) rs398122746
NM_000059.3(BRCA2):c.2409T>G (p.Tyr803Ter) rs80358504
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.3(BRCA2):c.3172A>T (p.Lys1058Ter) rs730881521
NM_000059.3(BRCA2):c.3187C>T (p.Gln1063Ter) rs876657678
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.3(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.4103del (p.Leu1368fs) rs1555283552
NM_000059.3(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.3(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.3(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.3(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711
NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) 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.5157_5161del (p.Asn1719fs) rs80359488
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer) rs80359494
NM_000059.3(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.3(BRCA2):c.5352dup (p.Thr1785fs) rs1555284188
NM_000059.3(BRCA2):c.5410_5411del (p.Val1804fs) rs80359512
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.3(BRCA2):c.5614A>T (p.Lys1872Ter) rs80358783
NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.5681dupA (p.Tyr1894Terfs) rs80359527
NM_000059.3(BRCA2):c.5718_5719CT[2] (p.Leu1908fs) rs80359530
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.6462_6463TC[3] (p.Gln2157fs) rs80359596
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616
NM_000059.3(BRCA2):c.6998dup (p.Pro2334fs) rs754611265
NM_000059.3(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.3(BRCA2):c.7436-2A>T rs397507917
NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981
NM_000059.3(BRCA2):c.7758G>A (p.Trp2586Ter) rs80359004
NM_000059.3(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) rs483353072
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8297del (p.Thr2766fs) rs80359705
NM_000059.3(BRCA2):c.8487+1G>A rs81002798
NM_000059.3(BRCA2):c.8489G>A (p.Trp2830Ter) rs80359101
NM_000059.3(BRCA2):c.8533_8534AG[2] (p.Glu2846fs) rs80359714
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.3(BRCA2):c.8953+1G>T rs81002882
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.3(BRCA2):c.9097dupA (p.Thr3033Asnfs) rs397507419
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9253del (p.Thr3085fs) rs397508041
NM_000059.3(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.3(BRCA2):c.956dupA (p.Asn319Lysfs) rs80359770
NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773
NM_000059.3(BRCA2):c.9777delT

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