"Breast Cancer Information Core (BIC) (BRCA2)"[submitter] AND "BRCA2"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 125955	NM_000059.4(BRCA2):c.-39-16G>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 37715	NM_000059.4(BRCA2):c.-39-12_-39-10del	BRCA2	Microsatellite (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 125954	NM_000059.4(BRCA2):c.-39-13T>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 125956	NM_000059.4(BRCA2):c.-39-5del	BRCA2	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GBenign/Likely benign
Select item 125957	NM_000059.4(BRCA2):c.-39-7T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 125958	NM_000059.4(BRCA2):c.-34T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 125967	NM_000059.4(BRCA2):c.-26G>T	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 125966	NM_000059.4(BRCA2):c.-26G>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125965	NM_000059.4(BRCA2):c.-26G>A	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37714	NM_000059.4(BRCA2):c.-15A>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 125972	NM_000059.4(BRCA2):c.-14T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 125975	NM_000059.4(BRCA2):c.-12T>G	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 125974	NM_000059.4(BRCA2):c.-12T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
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 51385	NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)	BRCA2 (M1R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
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 37872	NM_000059.4(BRCA2):c.3del (p.Met1fs)	BRCA2	Deletion (frameshift variant +1 more)	Familial cancer of breast +3 more	GPathogenic
Select item 37871	NM_000059.4(BRCA2):c.3G>T (p.Met1Ile)	BRCA2 (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 51984	NM_000059.4(BRCA2):c.5C>T (p.Pro2Leu)	BRCA2 (P2L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 51198	NM_000059.4(BRCA2):c.17_18del (p.Lys6fs)	BRCA2	Deletion (frameshift variant)	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 51329	NM_000059.4(BRCA2):c.26C>T (p.Pro9Leu)	BRCA2 (P9L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 51509	NM_000059.4(BRCA2):c.36dup (p.Glu13Ter)	BRCA2 (E13*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51508	NM_000059.4(BRCA2):c.36del (p.Phe12fs)	BRCA2 (F12fs)	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 125980	NM_000059.4(BRCA2):c.37_38insT (p.Glu13fs)	BRCA2 (E13fs)	Insertion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51527	NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter)	BRCA2 (E13*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 51814	NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)	BRCA2 (R18fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 52081	NM_000059.4(BRCA2):c.63del (p.Ala22fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 52163	NM_000059.4(BRCA2):c.67+2T>C	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic
Select item 52162	NM_000059.4(BRCA2):c.67+2T>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 125991	NM_000059.4(BRCA2):c.67+62T>G	BRCA2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 52164	NM_000059.4(BRCA2):c.67+82C>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52188	NM_000059.4(BRCA2):c.68-7del	BRCA2	Deletion (intron variant)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
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 52318	NM_000059.4(BRCA2):c.73G>A (p.Gly25Arg)	BRCA2 (G25R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 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 52659	NM_000059.4(BRCA2):c.86_87del (p.Leu29fs)	BRCA2 (L29fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52775	NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg)	BRCA2 (W31R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 52830	NM_000059.4(BRCA2):c.93G>T (p.Trp31Cys)	BRCA2 (W31C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 51041	NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)	BRCA2 (E34*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126005	NM_000059.4(BRCA2):c.106dup (p.Ser36fs)	BRCA2 (S36fs)	Duplication (frameshift variant)	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)	not provided +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 51096	NM_000059.4(BRCA2):c.128del (p.Asn43fs)	BRCA2 (N43fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126008	NM_000059.3(BRCA2):c.132_133ins8	BRCA2	Insertion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 51138	NM_000059.4(BRCA2):c.151del (p.Glu51fs)	BRCA2 (E51fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96767	NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)	BRCA2 (N56del)	Microsatellite (inframe_deletion)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51157	NM_000059.4(BRCA2):c.161A>C (p.Asn54Thr)	BRCA2 (N54T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 51167	NM_000059.4(BRCA2):c.164A>G (p.Asn55Ser)	BRCA2 (N55S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 37751	NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)	BRCA2 (N56T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51177	NM_000059.4(BRCA2):c.170dup (p.Tyr57Ter)	BRCA2 (Y57*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51185	NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)	BRCA2 (P59A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 37758	NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)	BRCA2 (N60S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +6 more	GConflicting classifications of pathogenicity
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 51234	NM_000059.4(BRCA2):c.198A>G (p.Gln66=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51251	NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)	BRCA2 (N72S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 51265	NM_000059.4(BRCA2):c.227C>G (p.Ser76Ter)	BRCA2 (S76*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 37783	NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)	BRCA2 (I79V)	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)	Familial cancer of breast +5 more	GUncertain significance
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 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 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 51321	NM_000059.4(BRCA2):c.263del (p.Leu88fs)	BRCA2 (L88fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51320	NM_000059.4(BRCA2):c.263T>G (p.Leu88Arg)	BRCA2 (L88R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 51324	NM_000059.4(BRCA2):c.266del (p.Pro89fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51339	NM_000059.4(BRCA2):c.276dup (p.Ser93fs)	BRCA2 (S93fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37799	NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)	BRCA2 (Q92*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37803	NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)	BRCA2 (P94S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 51374	NM_000059.4(BRCA2):c.292T>G (p.Leu98Val)	BRCA2 (L98V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 51382	NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter)	BRCA2 (K100*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 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 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 51416	NM_000059.4(BRCA2):c.317-54C>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 51415	NM_000059.4(BRCA2):c.317-22C>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 51414	NM_000059.4(BRCA2):c.317-12G>A	BRCA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 37825	NM_000059.4(BRCA2):c.317-10A>G	BRCA2	Single nucleotide variant (intron variant)	not specified +4 more	GLikely 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 51460	NM_000059.4(BRCA2):c.341A>G (p.His114Arg)	BRCA2 (H114R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 51463	NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)	BRCA2 (K115E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37845	NM_000059.4(BRCA2):c.353G>A (p.Arg118His)	BRCA2 (R118H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 51517	NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)	BRCA2 (D125E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 51526	NM_000059.4(BRCA2):c.379G>T (p.Ala127Ser)	BRCA2 (A127S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 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

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