C2675520[trait identifier] AND "BRCAlab, Lund University"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 491195	NM_000059.4(BRCA2):c.-39-10T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 733130	NM_000059.4(BRCA2):c.-30C>T	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
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 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 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 267656	NM_000059.4(BRCA2):c.67+1del	BRCA2	Deletion (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 2692390	NM_000059.4(BRCA2):c.67+57_316+123delinsCAC	BRCA2	Indel (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 635874	NM_000059.4(BRCA2):c.68-352_317-1637del	BRCA2	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast +1 more	GPathogenic
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 628280	NM_000059.4(BRCA2):c.68A>G (p.Asp23Gly)	BRCA2 (D23G)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 51339	NM_000059.4(BRCA2):c.276dup (p.Ser93fs)	BRCA2 (S93fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 810853	NM_000059.4(BRCA2):c.277_317-726delinsCCAT	BRCA2	Indel (splice donor variant)	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 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 37854	NM_000059.4(BRCA2):c.370A>C (p.Met124Leu)	BRCA2 (M124L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2692243	NM_000059.4(BRCA2):c.377A>T (p.Gln126Leu)	BRCA2 (Q126L +1 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692246	NM_000059.4(BRCA2):c.425+7T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 427541	NM_000059.4(BRCA2):c.438A>G (p.Leu146=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 1740873	NM_000059.4(BRCA2):c.447A>G (p.Thr149=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 479347	NM_000059.4(BRCA2):c.468T>A (p.Asp156Glu)	BRCA2 (D156E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 126118	NM_000059.4(BRCA2):c.476-9dup	BRCA2	Duplication (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 988513	NM_000059.4(BRCA2):c.480_489del (p.Gly162fs)	BRCA2 (G162fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 37941	NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	BRCA2 (K169R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +6 more	GConflicting classifications of pathogenicity
Select item 462366	NM_000059.4(BRCA2):c.516+17G>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 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 584463	NM_000059.4(BRCA2):c.537dup (p.Ile180fs)	BRCA2 (I180fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 462396	NM_000059.4(BRCA2):c.601C>T (p.Pro201Ser)	BRCA2 (P201S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 9348	NM_000059.4(BRCA2):c.631+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GPathogenic/Likely pathogenic
Select item 2692263	NM_000059.4(BRCA2):c.631+16G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 225713	NM_000059.4(BRCA2):c.631+25C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GBenign/Likely benign
Select item 52055	NM_000059.4(BRCA2):c.631+43G>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GBenign/Likely benign
Select item 1713207	NM_000059.4(BRCA2):c.632-1366_3312del	BRCA2	Deletion (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52064	NM_000059.4(BRCA2):c.632-69T>C	BRCA2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +2 more	GBenign/Likely benign
Select item 2692269	NM_000059.4(BRCA2):c.632-19A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 267654	NM_000059.4(BRCA2):c.632-2del	BRCA2	Deletion (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38067	NM_000059.4(BRCA2):c.682-12_682-11del	BRCA2	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 1325681	NM_000059.4(BRCA2):c.682-11A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 266975	NM_000059.4(BRCA2):c.694dup (p.Tyr232fs)	BRCA2 (Y232fs)	Duplication (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 and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 267011	NM_000059.4(BRCA2):c.743del (p.Ala248fs)	BRCA2 (A248fs)	Deletion (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 2692276	NM_000059.4(BRCA2):c.793+16A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 267053	NM_000059.4(BRCA2):c.805dup (p.Thr269fs)	BRCA2 (T269fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38152	NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)	BRCA2 (N277K)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
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 215626	NM_000059.4(BRCA2):c.909T>G (p.Ser303=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 38241	NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +6 more	GBenign/Likely benign
Select item 38248	NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	BRCA2 (N319T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 141906	NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr)	BRCA2 (A336T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 51048	NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)	BRCA2 (A338T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 254486	NM_000059.4(BRCA2):c.1055dup (p.Tyr352Ter)	BRCA2 (Y352*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 140962	NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala)	BRCA2 (E357A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 230478	NM_000059.4(BRCA2):c.1134del (p.Ser378fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51077	NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)	BRCA2 (E394A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 266624	NM_000059.4(BRCA2):c.1286T>G (p.Leu429Ter)	BRCA2 (L429*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37736	NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)	BRCA2 (N433fs)	Microsatellite (frameshift variant)	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 629200	NM_000059.4(BRCA2):c.1322C>A (p.Thr441Asn)	BRCA2 (T441N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 918487	NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter)	BRCA2 (S455*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 438953	NM_000059.4(BRCA2):c.1368G>C (p.Glu456Asp)	BRCA2 (E456D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 37738	NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)	BRCA2 (E462G)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51116	NM_000059.4(BRCA2):c.1395A>C (p.Val465=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37741	NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)	BRCA2 (A487E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 142547	NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)	BRCA2 (S489C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51135	NM_000059.4(BRCA2):c.1499del (p.Gly500fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692291	NM_000059.4(BRCA2):c.1542G>C (p.Glu514Asp)	BRCA2 (E514D)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 51143	NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val)	BRCA2 (F520V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182281	NM_000059.4(BRCA2):c.1584C>T (p.Asn528=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 1678927	NM_000059.4(BRCA2):c.1705C>T (p.Gln569Ter)	BRCA2 (Q569*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 266655	NM_000059.4(BRCA2):c.1707_1708del (p.Asn570fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692292	NM_000059.4(BRCA2):c.1733G>C (p.Gly578Ala)	BRCA2 (G578A)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 51190	NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)	BRCA2 (I591fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51192	NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)	BRCA2 (D596H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41543	NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)	BRCA2 (T598A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37756	NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 491210	NM_000059.4(BRCA2):c.1803A>C (p.Lys601Asn)	BRCA2 (K601N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 51200	NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)	BRCA2 (G602R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51206	NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)	BRCA2 (P606L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 988575	NM_000059.4(BRCA2):c.1818_1819del (p.Lys607fs)	BRCA2 (K607fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1059832	NM_000059.4(BRCA2):c.1832C>T (p.Ser611Leu)	BRCA2 (S611L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 37764	NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)	BRCA2 (S611*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 953616	NM_000059.4(BRCA2):c.1918C>A (p.His640Asn)	BRCA2 (H640N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity

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