C2675520[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 38072	NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)	BRCA2 (K230*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91465	NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)	BRCA2 (Y232H)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 52263	NM_000059.4(BRCA2):c.707A>G (p.His236Arg)	BRCA2 (H236R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 483095	NM_000059.4(BRCA2):c.712G>C (p.Glu238Gln)	BRCA2 (E238Q)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 126202	NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)	BRCA2	Duplication (inframe_insertion)	not provided +5 more	GUncertain significance
Select item 96848	NM_000059.4(BRCA2):c.715del (p.Ser239fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52302	NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52326	NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)	BRCA2 (A248T)	Single nucleotide variant (missense variant)	Breast neoplasm +6 more	GConflicting classifications of pathogenicity
Select item 52343	NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 9326	NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 188425	NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38119	NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)	BRCA2 (E260fs)	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)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 430601	NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)	BRCA2 (S286*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41567	NM_000059.4(BRCA2):c.865A>C (p.Asn289His)	BRCA2 (N289H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125928	NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)	BRCA2 (T298fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52870	NM_000059.4(BRCA2):c.956dup (p.Asn319fs)	BRCA2 (N319fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52876	NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)	BRCA2 (Q321*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38267	NM_000059.4(BRCA2):c.998dup (p.His334fs)	BRCA2 (H334fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51045	NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37724	NM_000059.4(BRCA2):c.1029del (p.Lys343fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37725	NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)	BRCA2 (Y352fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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