"Michigan Medical Genetics Laboratories, University of Michigan"[submi - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 91433	NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)	BRCA2 (N20S)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 225732	NM_000059.4(BRCA2):c.67G>A (p.Asp23Asn)	BRCA2 (D23N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 38061	NM_000059.4(BRCA2):c.67+4T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 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 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 188421	NM_000059.4(BRCA2):c.316+108A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 225733	NM_000059.4(BRCA2):c.333T>C (p.Asn111=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37876	NM_000059.4(BRCA2):c.407del (p.Asn136fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 225712	NM_000059.4(BRCA2):c.425+33A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GBenign/Likely benign
Select item 126118	NM_000059.4(BRCA2):c.476-9dup	BRCA2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 188424	NM_000059.4(BRCA2):c.516+21A>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 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 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 225713	NM_000059.4(BRCA2):c.631+25C>T	BRCA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 225734	NM_000059.4(BRCA2):c.631+31A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 225714	NM_000059.4(BRCA2):c.631+43G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely 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 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 225736	NM_000059.4(BRCA2):c.682-30A>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 225735	NM_000059.4(BRCA2):c.682-25T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 91465	NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)	BRCA2 (Y232H)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
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 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 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 52598	NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)	BRCA2 (I283V)	Single nucleotide variant (missense variant)	not provided +5 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 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
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 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 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)	not provided +5 more	GConflicting classifications of pathogenicity
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 225715	NM_000059.4(BRCA2):c.1329del (p.Asn444fs)	BRCA2 (N444fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 225738	NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro)	BRCA2 (L452P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 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 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 188427	NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys)	BRCA2 (E532K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
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 51199	NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter)	BRCA2 (Y600*)	Single nucleotide variant (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 209689	NM_000059.4(BRCA2):c.1910-43T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37769	NM_000059.4(BRCA2):c.1929del (p.Arg645fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51230	NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 184028	NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51249	NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)	BRCA2 (Q713L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 37775	NM_000059.4(BRCA2):c.2152G>A (p.Glu718Lys)	BRCA2 (E718K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 225739	NM_000059.4(BRCA2):c.2184_2195dup (p.Asp728_Glu731dup)	BRCA2	Duplication (inframe_insertion)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
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 37781	NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)	BRCA2 (T774A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 91775	NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)	BRCA2 (D777fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 225740	NM_000059.4(BRCA2):c.2695A>G (p.Asn899Asp)	BRCA2 (N899D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 51343	NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51353	NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)	BRCA2 (A938E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 51366	NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51379	NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51435	NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 225716	NM_000059.4(BRCA2):c.3323del (p.Lys1108fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91798	NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)	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 51461	NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 225741	NM_000059.4(BRCA2):c.3437A>T (p.Glu1146Val)	BRCA2 (E1146V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 41546	NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)	BRCA2 (S1172L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51481	NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 37863	NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)	BRCA2 (C1290Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 184439	NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51589	NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 136560	NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51592	NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)	BRCA2 (I1364L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51616	NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41549	NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)	BRCA2 (D1420Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51623	NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)	BRCA2 (S1424C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51640	NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 37909	NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)	BRCA2 (H1525R)	Single nucleotide variant (missense variant)	Medulloblastoma +9 more	GConflicting classifications of pathogenicity
Select item 37910	NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)	BRCA2 (G1529R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 225717	NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 225742	NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs)	BRCA2 (D1540fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 225743	NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln)	BRCA2 (E1550Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 51695	NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)	BRCA2 (H1561N)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 184480	NM_000059.4(BRCA2):c.4725C>T (p.Asp1575=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37920	NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys)	BRCA2 (E1581K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 37929	NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)	BRCA2 (N1626fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51743	NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)	BRCA2 (V1643A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 142026	NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)	BRCA2 (T1653A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37936	NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	BRCA2 (Y1655*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37942	NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)	BRCA2 (K1690N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 225744	NM_000059.4(BRCA2):c.5166dup (p.Thr1723fs)	BRCA2 (T1723fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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