"GeneKor MSA"[submitter] AND "BRCA2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 146

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209599	NM_000059.4(BRCA2):c.-175C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209600	NM_000059.4(BRCA2):c.-52A>G	BRCA2, LOC106721785	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 51063	NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)	BRCA2 (G4*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 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 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 252437	NM_000059.4(BRCA2):c.378dup (p.Ala127fs)	BRCA2 (A127fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 187244	NM_000059.4(BRCA2):c.425+4T>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 126095	NM_000059.4(BRCA2):c.425+67A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126098	NM_000059.4(BRCA2):c.426-89T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 584463	NM_000059.4(BRCA2):c.537dup (p.Ile180fs)	BRCA2 (I180fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 209652	NM_000059.4(BRCA2):c.631+183T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126192	NM_000059.4(BRCA2):c.681+56C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 495095	NM_000059.4(BRCA2):c.682-1G>T	BRCA2	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast	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 52437	NM_000059.4(BRCA2):c.793+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome +5 more	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 52924	NM_000059.4(BRCA2):c.994del (p.Ile332fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252438	NM_000059.4(BRCA2):c.1057del (p.Ser353fs)	BRCA2 (S353fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 495096	NM_000059.4(BRCA2):c.1059del (p.Phe354fs)	BRCA2 (F354fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 252439	NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer)	BRCA2	Indel	Familial cancer of breast	GPathogenic
Select item 9329	NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	BRCA2 (N372H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51065	NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter)	BRCA2 (Q373*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 236829	NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)	BRCA2 (Q397*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37737	NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)	BRCA2 (K437fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252440	NM_000059.4(BRCA2):c.1306_1307del (p.Lys436fs)	BRCA2 (K436fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51102	NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter)	BRCA2 (E443*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 125943	NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51113	NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51119	NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)	BRCA2	Microsatellite (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252441	NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter)	BRCA2 (K530*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252442	NM_000059.4(BRCA2):c.1733del (p.Gly578fs)	BRCA2 (G578fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51187	NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252443	NM_000059.4(BRCA2):c.1821dup (p.Asp608fs)	BRCA2 (D608fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 209687	NM_000059.4(BRCA2):c.1910-74T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209688	NM_000059.4(BRCA2):c.1910-51G>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 266676	NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 125979	NM_000059.4(BRCA2):c.2229T>C (p.His743=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 141070	NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)	BRCA2 (S780*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51283	NM_000059.4(BRCA2):c.2435del (p.Asn812fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266703	NM_000059.4(BRCA2):c.2490_2491insT (p.Val831fs)	BRCA2 (V831fs)	Insertion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 495097	NM_000059.4(BRCA2):c.2644del (p.Leu882fs)	BRCA2 (L882fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 189178	NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)	BRCA2 (T915fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51375	NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)	BRCA2 (I982L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41545	NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)	BRCA2 (N991D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37815	NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)	BRCA2 (T1011R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 51418	NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126010	NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37840	NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)	BRCA2 (E1146G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 462293	NM_000059.4(BRCA2):c.3462del (p.Thr1155fs)	BRCA2 (T1155fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 37846	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 584510	NM_000059.4(BRCA2):c.3547G>C (p.Glu1183Gln)	BRCA2 (E1183Q)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 51486	NM_000059.4(BRCA2):c.3554_3563del (p.Thr1185fs)	BRCA2 (T1185fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41547	NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)	BRCA2 (I1188V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 584511	NM_000059.4(BRCA2):c.3608G>A (p.Ser1203Asn)	BRCA2 (S1203N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 126022	NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126027	NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del)	BRCA2 (N1288del)	Microsatellite (inframe_deletion)	Microprolactinoma +6 more	GUncertain significance
Select item 37862	NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51578	NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	BRCA2 (A1327fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 265056	NM_000059.4(BRCA2):c.4412_4414del (p.Arg1471del)	BRCA2 (R1471del)	Deletion (inframe_deletion)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GUncertain significance
Select item 132779	NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37913	NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252444	NM_000059.4(BRCA2):c.4769del (p.Lys1590fs)	BRCA2 (K1590fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51732	NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)	BRCA2 (S1630*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 187482	NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr)	BRCA2 (R1694T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 51775	NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 495098	NM_000059.4(BRCA2):c.5162del (p.Asn1721fs)	BRCA2 (N1721fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic
Select item 37951	NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252445	NM_000059.4(BRCA2):c.5379_5380insTT (p.Val1794fs)	BRCA2 (V1794fs)	Insertion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 280750	NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)	BRCA2 (C1853fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51912	NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)	BRCA2	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 91428	NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)	BRCA2 (T1974I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 495099	NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)	BRCA2 (C1975fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 38016	NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)	BRCA2 (K2013*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 187483	NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr)	BRCA2 (A2054T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 96834	NM_000059.4(BRCA2):c.6211del (p.Ser2071fs)	BRCA2 (S2071fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52049	NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr)	BRCA2 (R2099T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 252446	NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)	BRCA2 (S2156fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38047	NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)	BRCA2 (Q2157fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 132780	NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9319	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 141952	NM_000059.4(BRCA2):c.6607G>T (p.Val2203Phe)	BRCA2 (V2203F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 52134	NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)	BRCA2 (V2205M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 495100	NM_000059.4(BRCA2):c.6839_6840insA (p.Glu2282fs)	BRCA2 (E2282fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 209939	NM_000059.4(BRCA2):c.6938-120T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38074	NM_000059.4(BRCA2):c.6941del (p.Thr2314fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38076	NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2 (R2318*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 584512	NM_000059.4(BRCA2):c.6983A>G (p.Glu2328Gly)	BRCA2 (E2328G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 52241	NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)	BRCA2 (R2336P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GPathogenic
Select item 232446	NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs)	BRCA2 (K2404fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52295	NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs)	BRCA2 (T2412fs)	Insertion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

<< First< Prev

Page of 2