"PreventionGenetics, part of Exact Sciences"[submitter] AND "BRCA2"[ge - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 490

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1140880	NM_000059.4(BRCA2):c.-45G>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	BRCA2-related disorder +1 more	GLikely benign
Select item 252427	NM_000059.4(BRCA2):c.-41G>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 37715	NM_000059.4(BRCA2):c.-39-12_-39-10del	BRCA2	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
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 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 184405	NM_000059.4(BRCA2):c.27A>G (p.Pro9=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 215435	NM_000059.4(BRCA2):c.67+17T>C	BRCA2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 38065	NM_000059.4(BRCA2):c.68-7dup	BRCA2	Duplication (intron variant)	Hereditary breast ovarian cancer syndrome +13 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 52303	NM_000059.4(BRCA2):c.72A>T (p.Leu24Phe)	BRCA2 (L24F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 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 1137434	NM_000059.4(BRCA2):c.132T>G (p.Ser44=)	BRCA2	Single nucleotide variant (synonymous variant)	BRCA2-related disorder +1 more	GLikely benign
Select item 96767	NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)	BRCA2 (N56del)	Microsatellite (inframe_deletion)	BRCA2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 51185	NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)	BRCA2 (P59A)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 560763	NM_000059.4(BRCA2):c.199A>G (p.Arg67Gly)	BRCA2 (R67G)	Single nucleotide variant (missense variant)	not provided +2 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 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 409565	NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu)	BRCA2 (P89L)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
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 185098	NM_000059.4(BRCA2):c.273C>T (p.Tyr91=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 136568	NM_000059.4(BRCA2):c.316+12A>G	BRCA2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 236846	NM_000059.4(BRCA2):c.316+13A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 184303	NM_000059.4(BRCA2):c.324T>C (p.Asn108=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 619805	NM_000059.4(BRCA2):c.369A>C (p.Lys123Asn)	BRCA2 (K123N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
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 37908	NM_000059.4(BRCA2):c.451G>A (p.Val151Ile)	BRCA2 (V151I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
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 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 37925	NM_000059.4(BRCA2):c.476-3C>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51757	NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)	BRCA2 (P168T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 2637307	NM_000059.4(BRCA2):c.505_506del (p.Lys169fs)	BRCA2 (K169fs +1 more)	Deletion (frameshift variant +1 more)	BRCA2-related disorder	GPathogenic
Select item 37941	NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	BRCA2 (K169R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 132764	NM_000059.4(BRCA2):c.516+14C>T	BRCA2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +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 182278	NM_000059.4(BRCA2):c.627C>T (p.Leu209=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 225713	NM_000059.4(BRCA2):c.631+25C>T	BRCA2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 993933	NM_000059.4(BRCA2):c.631+26A>T	BRCA2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 236890	NM_000059.4(BRCA2):c.632-13T>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 52106	NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)	BRCA2 (E215del)	Microsatellite (inframe_deletion)	not specified +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 184021	NM_000059.4(BRCA2):c.708T>C (p.His236=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52311	NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter)	BRCA2 (R245*)	Single nucleotide variant (nonsense)	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 135814	NM_000059.4(BRCA2):c.750G>A (p.Val250=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 479337	NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg)	BRCA2 (G265R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 186230	NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)	BRCA2 (G267*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 184826	NM_000059.4(BRCA2):c.807A>G (p.Thr269=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 1395037	NM_000059.4(BRCA2):c.839A>G (p.Lys280Arg)	BRCA2 (K280R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 52581	NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)	BRCA2 (D281N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 699122	NM_000059.4(BRCA2):c.846C>T (p.His282=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
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 1172379	NM_000059.4(BRCA2):c.883G>A (p.Val295Ile)	BRCA2 (V295I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 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 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 38241	NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)	BRCA2	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GBenign/Likely benign
Select item 1767210	NM_000059.4(BRCA2):c.950C>A (p.Thr317Lys)	BRCA2 (T317K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 38248	NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	BRCA2 (N319T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +5 more	GConflicting classifications of pathogenicity
Select item 38261	NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)	BRCA2 (R324T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 52898	NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)	BRCA2 (S326R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 186501	NM_000059.4(BRCA2):c.981G>A (p.Lys327=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
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 51060	NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)	BRCA2 (Q347R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 182279	NM_000059.4(BRCA2):c.1059A>G (p.Ser353=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
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 91747	NM_000059.4(BRCA2):c.1141G>A (p.Asp381Asn)	BRCA2 (D381N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 141867	NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)	BRCA2 (K382Q)	Single nucleotide variant (missense variant)	BRCA2-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 41541	NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	BRCA2 (S384F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 225737	NM_000059.4(BRCA2):c.1159G>T (p.Val387Phe)	BRCA2 (V387F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 184355	NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 184036	NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51080	NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)	BRCA2 (Q397fs)	Insertion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 224455	NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser)	BRCA2 (N404S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 51086	NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)	BRCA2 (E409K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 462227	NM_000059.4(BRCA2):c.1254A>G (p.Ser418=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +3 more	GLikely benign
Select item 132687	NM_000059.4(BRCA2):c.1272A>G (p.Ser424=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51093	NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 388464	NM_000059.4(BRCA2):c.1284A>G (p.Leu428=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51100	NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)	BRCA2 (F439V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 51108	NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 409427	NM_000059.4(BRCA2):c.1482G>A (p.Val494=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 41542	NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)	BRCA2 (I505T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51164	NM_000059.4(BRCA2):c.1644G>A (p.Gln548=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51169	NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)	BRCA2 (C554W)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 141498	NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)	BRCA2 (N556D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182186	NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val)	BRCA2 (A565V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 37753	NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)	BRCA2 (T582P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51193	NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)	BRCA2	Single nucleotide variant (synonymous 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 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 183776	NM_000059.4(BRCA2):c.1818G>A (p.Pro606=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 135791	NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)	BRCA2 (L613R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 37768	NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)	BRCA2 (T630I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign

<< First< Prev

Page of 5