"Revvity Omics, Revvity"[submitter] AND "BRCA2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 219

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51330	NM_000059.4(BRCA2):c.26del (p.Pro9fs)	BRCA2 (P9fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2098802	NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser)	BRCA2 (W31S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 52808	NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)	BRCA2 (W31*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51129	NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	BRCA2 (E49*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51371	NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)	BRCA2	Deletion (inframe_deletion)	Familial cancer of breast +3 more	GUncertain significance
Select item 133743	NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)	BRCA2 (H114Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GUncertain significance
Select item 37876	NM_000059.4(BRCA2):c.407del (p.Asn136fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 462327	NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter)	BRCA2 (C138*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 37923	NM_000059.4(BRCA2):c.476-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51801	NM_000059.4(BRCA2):c.517-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182177	NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)	BRCA2 (G173R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GPathogenic/Likely pathogenic
Select item 51926	NM_000059.4(BRCA2):c.574dup (p.Met192fs)	BRCA2 (M192fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51943	NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)	BRCA2 (W194*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52058	NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)	BRCA2 (V211I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 38035	NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)	BRCA2 (V211L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 9349	NM_000059.4(BRCA2):c.631+2T>G	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91445	NM_000059.4(BRCA2):c.635_636del (p.Arg212fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91457	NM_000059.4(BRCA2):c.681+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 38103	NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)	BRCA2 (D252fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52437	NM_000059.4(BRCA2):c.793+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GPathogenic/Likely pathogenic
Select item 568479	NM_000059.4(BRCA2):c.794-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 495430	NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)	BRCA2 (S401*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 462226	NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)	BRCA2 (Q407*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 37731	NM_000059.4(BRCA2):c.1238del (p.Leu413fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37735	NM_000059.4(BRCA2):c.1265del (p.Asn422fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37737	NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)	BRCA2 (K437fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 418992	NM_000059.4(BRCA2):c.1321_1324del (p.Thr441fs)	BRCA2 (T441fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51113	NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51120	NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)	BRCA2 (E471*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51128	NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)	BRCA2 (Q486*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 926696	NM_000059.4(BRCA2):c.1561dup (p.Ser521fs)	BRCA2 (S521fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 37754	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51199	NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter)	BRCA2 (Y600*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37763	NM_000059.4(BRCA2):c.1813del (p.Ile605fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37769	NM_000059.4(BRCA2):c.1929del (p.Arg645fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2439561	NM_000059.4(BRCA2):c.2024C>T (p.Thr675Ile)	BRCA2 (T675I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2688678	NM_000059.4(BRCA2):c.2057T>C (p.Leu686Pro)	BRCA2 (L686P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 51260	NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 141901	NM_000059.4(BRCA2):c.2312T>G (p.Leu771Ter)	BRCA2 (L771*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91775	NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)	BRCA2 (D777fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91776	NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)	BRCA2 (E790*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1792327	NM_000059.4(BRCA2):c.2507del (p.Pro836fs)	BRCA2 (P836fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 142288	NM_000059.4(BRCA2):c.2570dup (p.Arg858fs)	BRCA2 (R858fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51331	NM_000059.4(BRCA2):c.2701del (p.Ala902fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91787	NM_000059.4(BRCA2):c.2808del (p.Lys936fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51355	NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)	BRCA2 (K944*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51378	NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)	BRCA2 (N986fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266730	NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37814	NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)	BRCA2 (H1003fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2438756	NM_000059.4(BRCA2):c.3070_3071del (p.Asn1023_Ile1024insTer)	BRCA2	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 51400	NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)	BRCA2 (E1035*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37826	NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 841473	NM_000059.4(BRCA2):c.3215T>G (p.Leu1072Ter)	BRCA2 (L1072*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 37830	NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	BRCA2 (Q1089fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37832	NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)	BRCA2 (N1100I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 37838	NM_000059.4(BRCA2):c.3395A>G (p.Lys1132Arg)	BRCA2 (K1132R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 231604	NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)	BRCA2 (Y1135*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37846	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 531348	NM_000059.4(BRCA2):c.3610G>T (p.Ala1204Ser)	BRCA2 (A1204S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 37853	NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2438762	NM_000059.4(BRCA2):c.3700_3701del (p.Leu1234fs)	BRCA2 (L1234fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 37855	NM_000059.4(BRCA2):c.3717del (p.Lys1239fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37856	NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51516	NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)	BRCA2 (T1251fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51546	NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)	BRCA2 (N1287fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37862	NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37867	NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)	BRCA2 (E1308*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51578	NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	BRCA2 (A1327fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51593	NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)	BRCA2 (C1365*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182313	NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs)	BRCA2 (F1372fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37880	NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51602	NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91815	NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37889	NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)	BRCA2 (Q1408*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37890	NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)	BRCA2 (E1415*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266806	NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)	BRCA2 (E1456*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51640	NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37904	NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37906	NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51653	NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)	BRCA2 (E1493fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 187125	NM_000059.4(BRCA2):c.4477_4478del (p.Glu1493fs)	BRCA2 (E1493fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51660	NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)	BRCA2 (R1512C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +6 more	GConflicting classifications of pathogenicity
Select item 91822	NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51681	NM_000059.4(BRCA2):c.4593dup (p.Val1532fs)	BRCA2 (V1532fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51678	NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)	BRCA2 (K1530*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 225742	NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs)	BRCA2 (D1540fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37913	NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37915	NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 825065	NM_000059.4(BRCA2):c.4641del (p.Asp1547fs)	BRCA2 (D1547fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 51687	NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 142963	NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs)	BRCA2 (E1608fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37929	NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)	BRCA2 (N1626fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96811	NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51746	NM_000059.4(BRCA2):c.4940_4941del (p.Thr1647fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

<< First< Prev

Page of 3