"Counsyl"[submitter] AND "BRCA2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 927

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 125976	NM_000059.4(BRCA2):c.-11C>T	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37717	NM_000059.4(BRCA2):c.-9T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51384	NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)	BRCA2 (M1T)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GPathogenic/Likely pathogenic
Select item 51579	NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)	BRCA2 (M1I)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 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 184598	NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)	BRCA2 (R18C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 51855	NM_000059.4(BRCA2):c.53G>A (p.Arg18His)	BRCA2 (R18H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38033	NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)	BRCA2 (K21R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 52163	NM_000059.4(BRCA2):c.67+2T>C	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GPathogenic
Select item 135812	NM_000059.4(BRCA2):c.67+16A>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 215435	NM_000059.4(BRCA2):c.67+17T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 548904	NM_000059.4(BRCA2):c.67+19del	BRCA2	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 136553	NM_000059.4(BRCA2):c.67+19T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GBenign/Likely benign
Select item 433744	NM_000059.4(BRCA2):c.68-17del	BRCA2	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 38065	NM_000059.4(BRCA2):c.68-7dup	BRCA2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +12 more	GBenign/Likely benign
Select item 52187	NM_000059.4(BRCA2):c.68-7T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125993	NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 415641	NM_000059.4(BRCA2):c.78A>G (p.Pro26=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52851	NM_000059.4(BRCA2):c.94T>C (p.Phe32Leu)	BRCA2 (F32L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 91748	NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)	BRCA2 (A39V)	Single nucleotide variant (missense variant)	not provided +4 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 51111	NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)	BRCA2 (P46S)	Single nucleotide variant (missense variant)	not provided +4 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 224452	NM_000059.4(BRCA2):c.171C>T (p.Tyr57=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
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 37758	NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)	BRCA2 (N60S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +6 more	GConflicting classifications of pathogenicity
Select item 184579	NM_000059.4(BRCA2):c.183A>G (p.Leu61=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 126028	NM_000059.4(BRCA2):c.189A>C (p.Lys63Asn)	BRCA2 (K63N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 51251	NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)	BRCA2 (N72S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
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 37785	NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)	BRCA2 (F81I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133742	NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)	BRCA2 (L86P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 51317	NM_000059.4(BRCA2):c.262_263del (p.Leu88fs)	BRCA2 (L88fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 135794	NM_000059.4(BRCA2):c.267G>A (p.Pro89=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51390	NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)	BRCA2 (K102R)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 371869	NM_000059.4(BRCA2):c.308dup (p.Leu103fs)	BRCA2 (L103fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
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 51428	NM_000059.4(BRCA2):c.322A>C (p.Asn108His)	BRCA2 (N108H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51463	NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)	BRCA2 (K115E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 184648	NM_000059.4(BRCA2):c.378A>G (p.Gln126=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37869	NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter)	BRCA2 (C132*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 433750	NM_000059.4(BRCA2):c.426-22G>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GLikely benign
Select item 51644	NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)	BRCA2 (Q147R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51657	NM_000059.4(BRCA2):c.449A>G (p.His150Arg)	BRCA2 (H150R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 182175	NM_000059.4(BRCA2):c.452T>C (p.Val151Ala)	BRCA2 (V151A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 491280	NM_000059.4(BRCA2):c.475+14C>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
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 548914	NM_000059.4(BRCA2):c.487A>C (p.Ser163Arg)	BRCA2 (S163R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 37941	NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	BRCA2 (K169R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
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 91837	NM_000059.4(BRCA2):c.517-12C>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 51797	NM_000059.4(BRCA2):c.517-11T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 37949	NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)	BRCA2	Deletion (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37971	NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)	BRCA2 (L184P)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 51921	NM_000059.4(BRCA2):c.572A>T (p.Asp191Val)	BRCA2 (D191V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 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 51959	NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)	BRCA2 (S196I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 52040	NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)	BRCA2 (V208G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 9348	NM_000059.4(BRCA2):c.631+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 267653	NM_000059.4(BRCA2):c.631+2T>A	BRCA2	Single nucleotide variant (splice donor variant)	not provided +1 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 96835	NM_000059.4(BRCA2):c.631+7A>G	BRCA2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 225713	NM_000059.4(BRCA2):c.631+25C>T	BRCA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 38036	NM_000059.4(BRCA2):c.632-16A>C	BRCA2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 236890	NM_000059.4(BRCA2):c.632-13T>G	BRCA2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 52172	NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala)	BRCA2 (T225A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 548895	NM_000059.4(BRCA2):c.681+8_681+11del	BRCA2	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 38068	NM_000059.4(BRCA2):c.682-13A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 91470	NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn)	BRCA2 (D237N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 252845	NM_000059.4(BRCA2):c.734G>C (p.Arg245Thr)	BRCA2 (R245T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 91477	NM_000059.4(BRCA2):c.735A>C (p.Arg245Ser)	BRCA2 (R245S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 52321	NM_000059.4(BRCA2):c.740T>C (p.Ile247Thr)	BRCA2 (I247T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 216257	NM_000059.4(BRCA2):c.747T>A (p.Ser249=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
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 142771	NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn)	BRCA2 (D252N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 487412	NM_000059.4(BRCA2):c.764dup (p.Asn255fs)	BRCA2 (N255fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic/Likely pathogenic
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 479383	NM_000059.4(BRCA2):c.793+1G>C	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 236910	NM_000059.4(BRCA2):c.794-17G>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 52441	NM_000059.4(BRCA2):c.794-11T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GBenign/Likely benign
Select item 52622	NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro)	BRCA2 (S286P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
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 38176	NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)	BRCA2 (N289D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 52683	NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)	BRCA2 (E294*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38191	NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)	BRCA2 (Y296C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184704	NM_000059.4(BRCA2):c.918T>C (p.Asp306=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 38238	NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)	BRCA2 (S313F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 38241	NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)	BRCA2	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign

<< First< Prev

Page of 10