"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)	not provided +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)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 187296	NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)	BRCA2 (G4A)	Single nucleotide variant (missense variant)	Familial cancer of breast +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)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 51477	NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)	BRCA2 (F12V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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	GConflicting classifications of pathogenicity
Select item 929077	NM_000059.4(BRCA2):c.41T>A (p.Ile14Asn)	BRCA2 (I14N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 125984	NM_000059.4(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu)	BRCA2	Insertion (inframe_insertion)	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)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 52161	NM_000059.4(BRCA2):c.67+1G>T	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52160	NM_000059.4(BRCA2):c.67+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GPathogenic
Select item 3240958	NM_000059.4(BRCA2):c.67+25T>C	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
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 481516	NM_000059.4(BRCA2):c.68-5A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184893	NM_000059.4(BRCA2):c.68-3T>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
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 570498	NM_000059.4(BRCA2):c.80_82del (p.Ile27del)	BRCA2 (I27del)	Deletion (inframe_deletion)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 52467	NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)	BRCA2 (I27V)	Single nucleotide variant (missense variant)	not provided +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)	not provided +5 more	GUncertain significance
Select item 266611	NM_000059.4(BRCA2):c.110C>G (p.Ser37Ter)	BRCA2 (S37*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51085	NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser)	BRCA2 (P41S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
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 breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 489742	NM_000059.4(BRCA2):c.142G>A (p.Glu48Lys)	BRCA2 (E48K)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
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 91755	NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)	BRCA2 (E58K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 51180	NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter)	BRCA2 (E58*)	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)	not provided +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)	not provided +5 more	GUncertain significance
Select item 1786858	NM_000059.4(BRCA2):c.215A>C (p.Asn72Thr)	BRCA2 (N72T)	Single nucleotide variant (missense variant)	Familial cancer of breast +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)	not provided +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)	Familial cancer of breast +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)	Familial cancer of breast +1 more	GUncertain significance
Select item 51277	NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)	BRCA2 (I80M)	Single nucleotide variant (missense variant)	Familial cancer of breast +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 409565	NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu)	BRCA2 (P89L)	Single nucleotide variant (missense variant)	BRCA2-related disorder +7 more	GUncertain significance
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 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)	Familial cancer of breast +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)	Hereditary breast ovarian cancer syndrome +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 51407	NM_000059.4(BRCA2):c.316+2T>C	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51410	NM_000059.4(BRCA2):c.316+5G>C	BRCA2	Single nucleotide variant (intron variant)	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)	Familial cancer of breast +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)	Fanconi anemia complementation group D1 +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)	Hereditary breast ovarian cancer syndrome +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	GConflicting classifications of pathogenicity
Select item 628896	NM_000059.4(BRCA2):c.388G>A (p.Val130Ile)	BRCA2 (V130I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 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)	not specified +5 more	GUncertain significance
Select item 197099	NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)	BRCA2 (S142N)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 234487	NM_000059.4(BRCA2):c.425+2T>C	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 495460	NM_000059.4(BRCA2):c.425+3A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +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 142885	NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)	BRCA2 (P143R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
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)	not specified +5 more	GUncertain significance
Select item 51647	NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)	BRCA2 (C148R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +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 253032	NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)	BRCA2 (R155K)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
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)	Hereditary cancer-predisposing syndrome +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)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 37924	NM_000059.4(BRCA2):c.476-3C>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +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 91827	NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg)	BRCA2 (S163R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 230063	NM_000059.4(BRCA2):c.497A>T (p.His166Leu)	BRCA2 (H166L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 126130	NM_000059.4(BRCA2):c.502C>G (p.Pro168Ala)	BRCA2 (P168A)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 51795	NM_000059.4(BRCA2):c.516G>A (p.Lys172=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 132764	NM_000059.4(BRCA2):c.516+14C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +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)	Inherited breast cancer and ovarian cancer +6 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)	Breast-ovarian cancer, familial, susceptibility to, 2 +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)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GPathogenic/Likely pathogenic
Select item 51818	NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys)	BRCA2 (R174C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GUncertain significance
Select item 409558	NM_000059.4(BRCA2):c.522del (p.Gln175fs)	BRCA2 (Q175fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51851	NM_000059.4(BRCA2):c.538_539dup (p.Ser181fs)	BRCA2 (S181fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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