"Baylor Genetics"[submitter] AND "BRCA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680248	NM_000059.4(BRCA2):c.-152T>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 438974	NM_000059.4(BRCA2):c.-39-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GPathogenic/Likely pathogenic
Select item 421014	NM_000059.4(BRCA2):c.-39-1_-39del	BRCA2	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 403704	NM_000059.4(BRCA2):c.-39-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 433743	NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)	BRCA2 (I3T)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 187296	NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)	BRCA2 (G4A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 186603	NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)	BRCA2 (T10A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 418560	NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)	BRCA2 (E13K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 91433	NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)	BRCA2 (N20S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 52160	NM_000059.4(BRCA2):c.67+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 2680257	NM_000059.4(BRCA2):c.67+225G>A	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 184893	NM_000059.4(BRCA2):c.68-3T>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 52286	NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52467	NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)	BRCA2 (I27V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 182238	NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)	BRCA2 (S36F)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 37734	NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)	BRCA2 (Y42C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 266621	NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)	BRCA2 (Y42*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 849543	NM_000059.4(BRCA2):c.137del (p.Pro46fs)	BRCA2 (P46fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
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 441291	NM_000059.4(BRCA2):c.181C>G (p.Leu61Val)	BRCA2 (L61V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2680290	NM_000059.4(BRCA2):c.192_193insATTTT (p.Pro65fs)	BRCA2 (P65fs)	Insertion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 51228	NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)	BRCA2 (T64I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 51239	NM_000059.4(BRCA2):c.204del (p.Lys68fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 230525	NM_000059.4(BRCA2):c.205C>A (p.Pro69Thr)	BRCA2 (P69T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GUncertain significance
Select item 1786858	NM_000059.4(BRCA2):c.215A>C (p.Asn72Thr)	BRCA2 (N72T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 51258	NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)	BRCA2 (A75P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37780	NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)	BRCA2 (T77A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 51269	NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 91774	NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)	BRCA2 (P78S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1720651	NM_000059.4(BRCA2):c.238A>C (p.Ile80Leu)	BRCA2 (I80L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 51277	NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)	BRCA2 (I80M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 51298	NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)	BRCA2 (Q84*)	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)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 51368	NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)	BRCA2 (E97*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 219849	NM_000059.4(BRCA2):c.296A>G (p.Asp99Gly)	BRCA2 (D99G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 438967	NM_000059.4(BRCA2):c.298A>G (p.Lys100Glu)	BRCA2 (K100E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 993172	NM_000059.4(BRCA2):c.301T>C (p.Phe101Leu)	BRCA2 (F101L)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 51406	NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)	BRCA2 (L105*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51409	NM_000059.4(BRCA2):c.316+5G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51411	NM_000059.4(BRCA2):c.316+6T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 136568	NM_000059.4(BRCA2):c.316+12A>G	BRCA2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 823201	NM_000059.4(BRCA2):c.320G>C (p.Arg107Thr)	BRCA2 (R107T)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 51430	NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)	BRCA2 (N108S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2680264	NM_000059.4(BRCA2):c.334_335dup (p.Ser112fs)	BRCA2 (S112fs)	Duplication (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 133743	NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)	BRCA2 (H114Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 91803	NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)	BRCA2 (R118C)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 51538	NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)	BRCA2 (D128G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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 2680243	NM_000059.4(BRCA2):c.410C>T (p.Ser137Phe)	BRCA2 (S137F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 37882	NM_000059.4(BRCA2):c.413G>T (p.Cys138Phe)	BRCA2 (C138F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GUncertain significance
Select item 197099	NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)	BRCA2 (S142N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 234487	NM_000059.4(BRCA2):c.425+2T>C	BRCA2	Single nucleotide variant (splice donor variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 495460	NM_000059.4(BRCA2):c.425+3A>G	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 91817	NM_000059.4(BRCA2):c.426-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 140997	NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro)	BRCA2 (L146P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 51641	NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)	BRCA2 (Q147*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37900	NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu)	BRCA2 (Q147L)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 51647	NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)	BRCA2 (C148R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 51684	NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51698	NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51706	NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu)	BRCA2 (S158L)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 51711	NM_000059.4(BRCA2):c.475G>A (p.Val159Met)	BRCA2 (V159M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 51709	NM_000059.4(BRCA2):c.475+1G>T	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 142998	NM_000059.4(BRCA2):c.476-4_476-1delinsT	BRCA2	Indel (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 37924	NM_000059.4(BRCA2):c.476-3C>A	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GUncertain significance
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 126124	NM_000059.4(BRCA2):c.489_490insG (p.Leu164fs)	BRCA2 (L164fs)	Insertion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126130	NM_000059.4(BRCA2):c.502C>G (p.Pro168Ala)	BRCA2 (P168A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 132764	NM_000059.4(BRCA2):c.516+14C>T	BRCA2	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 51799	NM_000059.4(BRCA2):c.517-19C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51802	NM_000059.4(BRCA2):c.517-4C>G	BRCA2	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 51800	NM_000059.4(BRCA2):c.517-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 37949	NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)	BRCA2	Deletion (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)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 51818	NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys)	BRCA2 (R174C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1002572	NM_000059.4(BRCA2):c.560A>T (p.Glu187Val)	BRCA2 (E187V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 441524	NM_000059.4(BRCA2):c.562G>A (p.Val188Met)	BRCA2 (V188M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GUncertain significance
Select item 37993	NM_000059.4(BRCA2):c.574_575del (p.Met192fs)	BRCA2 (M192fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51930	NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)	BRCA2 (M192T)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 409514	NM_000059.4(BRCA2):c.581G>C (p.Trp194Ser)	BRCA2 (W194S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 254479	NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter)	BRCA2 (S195*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266907	NM_000059.4(BRCA2):c.595_598del (p.Ala199fs)	BRCA2 (A199fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 234884	NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro)	BRCA2 (A199P)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 186155	NM_000059.4(BRCA2):c.620C>T (p.Thr207Ile)	BRCA2 (T207I)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 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 52054	NM_000059.4(BRCA2):c.631+3A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 96837	NM_000059.4(BRCA2):c.632-3_632-2del	BRCA2	Deletion (splice acceptor variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 219896	NM_000059.4(BRCA2):c.632-3C>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic FDA Recognized database
Select item 52063	NM_000059.4(BRCA2):c.632-2A>G	BRCA2	Single nucleotide variant (splice acceptor 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 52106	NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)	BRCA2 (E215del)	Microsatellite (inframe_deletion)	not provided +5 more	GUncertain significance
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 52138	NM_000059.4(BRCA2):c.662_663del (p.Phe221fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38058	NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu)	BRCA2 (F221L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign FDA Recognized database
Select item 91455	NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)	BRCA2 (A227T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 91457	NM_000059.4(BRCA2):c.681+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 233034	NM_000059.4(BRCA2):c.681+4A>T	BRCA2	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance

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