C4310719[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 107

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 940655	NM_002439.5(MSH3):c.14del (p.Lys5fs)	DHFR, MSH3 (K5fs)	Deletion (5 prime UTR variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1070997	NM_002439.5(MSH3):c.76C>T (p.Arg26Ter)	DHFR, MSH3 (R26*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 861045	NM_002439.5(MSH3):c.97A>G (p.Ser33Gly)	DHFR, MSH3 (S33G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 648547	NM_002439.5(MSH3):c.115T>A (p.Ser39Thr)	DHFR, MSH3 (S39T)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4 +3 more	GUncertain significance
Select item 1783782	NM_002439.5(MSH3):c.197C>T (p.Pro66Leu)	DHFR, MSH3 (P66L)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +2 more	GUncertain significance
Select item 942105	NM_002439.5(MSH3):c.238-1G>A	MSH3	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 4 +3 more	GLikely pathogenic
Select item 1070750	NM_002439.5(MSH3):c.242del (p.Thr81fs)	MSH3 (T81fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 950990	NM_002439.5(MSH3):c.253A>T (p.Arg85Ter)	MSH3 (R85*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 864272	NM_002439.5(MSH3):c.260_263del (p.Lys87fs)	MSH3 (K87fs)	Microsatellite (frameshift variant)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 1071210	NM_002439.5(MSH3):c.263_267del (p.Lys88fs)	MSH3 (K88fs)	Deletion (frameshift variant)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 650967	NM_002439.5(MSH3):c.287C>T (p.Pro96Leu)	MSH3 (P96L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 822397	NM_002439.5(MSH3):c.296dup (p.Lys100fs)	MSH3 (K100fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 961118	NM_002439.5(MSH3):c.292A>T (p.Lys98Ter)	MSH3 (K98*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 652570	NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)	MSH3 (Q106*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 658860	NM_002439.5(MSH3):c.358+2T>G	MSH3	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 1386968	NM_002439.5(MSH3):c.392del (p.Val130_Ser131insTer)	MSH3	Deletion (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2099497	NM_002439.5(MSH3):c.408del (p.Lys136fs)	MSH3 (K136fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +2 more	GPathogenic/Likely pathogenic
Select item 825881	NM_002439.5(MSH3):c.565C>T (p.Gln189Ter)	MSH3 (Q189*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 643818	NM_002439.5(MSH3):c.574C>T (p.Gln192Ter)	MSH3 (Q192*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 1503258	NM_002439.5(MSH3):c.579+1G>A	MSH3	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 643370	NM_002439.5(MSH3):c.586del (p.Thr196fs)	MSH3 (T196fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 1753236	NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)	MSH3 (L213*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 837189	NM_002439.5(MSH3):c.703C>T (p.Gln235Ter)	MSH3 (Q235*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 1068925	NM_002439.5(MSH3):c.724C>T (p.Gln242Ter)	MSH3 (Q242*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 841131	NM_002439.5(MSH3):c.790G>T (p.Glu264Ter)	MSH3 (E264*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 652518	NM_002439.5(MSH3):c.802C>T (p.Arg268Ter)	MSH3 (R268*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 643770	NM_002439.5(MSH3):c.873_876del (p.Val292fs)	MSH3 (V292fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 645533	NM_002439.5(MSH3):c.884G>A (p.Arg295His)	MSH3 (R295H)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 more	GUncertain significance
Select item 657893	NM_002439.5(MSH3):c.978_984del (p.Phe326fs)	MSH3, LOC126807437 (F326fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 2020610	NM_002439.5(MSH3):c.1017_1018insC (p.Ile340fs)	LOC126807437, MSH3 (I340fs)	Insertion (frameshift variant)	Familial adenomatous polyposis 4 +2 more	GPathogenic/Likely pathogenic
Select item 1040708	NM_002439.5(MSH3):c.1028-1A>T	MSH3	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GUncertain significance
Select item 809772	NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer)	MSH3	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 646031	NM_002439.5(MSH3):c.1040del (p.Leu347fs)	MSH3 (L347fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 644085	NM_002439.5(MSH3):c.1060dup (p.Val354fs)	MSH3 (V354fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 822099	NM_002439.5(MSH3):c.1087dup (p.Thr363fs)	MSH3 (T363fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 643621	NM_002439.5(MSH3):c.1148dup (p.Asn385fs)	MSH3 (N385fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 8738	NM_002439.5(MSH3):c.1148del (p.Lys383fs)	MSH3 (K383fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 1073327	NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)	MSH3 (K382*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 641273	NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)	MSH3 (S419*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 818733	NM_002439.5(MSH3):c.1264C>T (p.Gln422Ter)	MSH3 (Q422*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 2673935	NM_002439.5(MSH3):c.1308_1309insAA (p.Glu437fs)	MSH3 (E437fs)	Insertion (frameshift variant)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 642843	NM_002439.5(MSH3):c.1310_1311del (p.Glu437fs)	MSH3 (E437fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2676787	NM_002439.5(MSH3):c.1309G>T (p.Glu437Ter)	MSH3 (E437*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 954646	NM_002439.5(MSH3):c.1341-2A>G	MSH3	Single nucleotide variant (splice acceptor variant)	Endometrial carcinoma +3 more	GLikely pathogenic
Select item 648498	NM_002439.5(MSH3):c.1341-1G>T	MSH3	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 4 +3 more	GConflicting classifications of pathogenicity
Select item 644460	NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter)	MSH3 (R454*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 944035	NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter)	MSH3 (E456*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 658005	NM_002439.5(MSH3):c.1366G>A (p.Glu456Lys)	MSH3 (E456K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 653005	NM_002439.5(MSH3):c.1394A>G (p.Tyr465Cys)	MSH3 (Y465C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 660042	NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs)	MSH3 (E474fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1072005	NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter)	MSH3 (Y476*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 654470	NM_002439.5(MSH3):c.1454-2A>G	MSH3	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 847584	NM_002439.5(MSH3):c.1499_1502dup (p.Ser502fs)	MSH3 (S502fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 838651	NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter)	MSH3 (E512*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 2673560	NM_002439.5(MSH3):c.1536del (p.Glu512fs)	MSH3 (E512fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 964854	NM_002439.5(MSH3):c.1554_1558delinsCCTA (p.Met518fs)	MSH3 (M518fs)	Indel (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 785130	NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)	MSH3 (N524T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 665225	NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter)	MSH3 (S529*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 1454122	NM_002439.5(MSH3):c.1611_1614del (p.Ile537fs)	MSH3 (I537fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +2 more	GPathogenic/Likely pathogenic
Select item 953524	NM_002439.5(MSH3):c.1625dup (p.Leu542fs)	MSH3 (L542fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 654940	NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs)	MSH3 (N550fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 1071655	NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter)	MSH3 (W562*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +2 more	GPathogenic/Likely pathogenic
Select item 640155	NM_002439.5(MSH3):c.1721G>A (p.Arg574Gln)	MSH3 (R574Q)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 4 +3 more	GUncertain significance
Select item 1692659	NM_002439.5(MSH3):c.1736G>A (p.Trp579Ter)	MSH3 (W579*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 662376	NM_002439.5(MSH3):c.1764-1G>A	MSH3	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 645380	NM_002439.5(MSH3):c.1778G>A (p.Arg593Gln)	MSH3 (R593Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1069310	NM_002439.5(MSH3):c.1828C>T (p.Gln610Ter)	MSH3 (Q610*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +2 more	GPathogenic/Likely pathogenic
Select item 649197	NM_002439.5(MSH3):c.1834G>A (p.Glu612Lys)	MSH3 (E612K)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 more	GUncertain significance
Select item 1075809	NM_002439.5(MSH3):c.1877_1878del (p.Leu625_Cys626insTer)	MSH3	Deletion (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1471796	NM_002439.5(MSH3):c.1896+1G>A	MSH3	Single nucleotide variant (splice donor variant)	Endometrial carcinoma +3 more	GLikely pathogenic
Select item 650587	NM_002439.5(MSH3):c.1896+2T>C	MSH3	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 838852	NM_002439.5(MSH3):c.1897-1G>A	MSH3	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 640350	NM_002439.5(MSH3):c.1935_1938dup (p.His647fs)	MSH3 (H647fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 660399	NM_002439.5(MSH3):c.2044G>C (p.Val682Leu)	MSH3 (V682L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 649279	NM_002439.5(MSH3):c.2141dup (p.Arg715fs)	MSH3 (R715fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 660274	NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter)	MSH3 (R727*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 647568	NM_002439.5(MSH3):c.2185C>G (p.His729Asp)	MSH3 (H729D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 864573	NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter)	MSH3 (R734*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 639446	NM_002439.5(MSH3):c.2218C>T (p.Pro740Ser)	MSH3 (P740S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2673486	NM_002439.5(MSH3):c.2254-2A>G	MSH3	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 4 +2 more	GLikely pathogenic
Select item 1071904	NM_002439.5(MSH3):c.2276_2277del (p.Ser759fs)	MSH3 (S759fs)	Microsatellite (frameshift variant)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 649891	NM_002439.5(MSH3):c.2281G>T (p.Val761Leu)	MSH3 (V761L)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 4 +3 more	GUncertain significance
Select item 938273	NM_002439.5(MSH3):c.2318+5del	MSH3	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 253325	NM_002439.5(MSH3):c.2319-1G>A	MSH3	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 640523	NM_002439.5(MSH3):c.2336G>A (p.Arg779His)	MSH3 (R779H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 949139	NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter)	MSH3 (E797*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 640292	NM_002439.5(MSH3):c.2396T>G (p.Leu799Arg)	MSH3 (L799R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 836979	NM_002439.5(MSH3):c.2421G>A (p.Trp807Ter)	MSH3 (W807*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +2 more	GPathogenic/Likely pathogenic
Select item 655023	NM_002439.5(MSH3):c.2436-1G>A	MSH3	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 4 +3 more	GConflicting classifications of pathogenicity
Select item 663743	NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg)	MSH3 (K813R)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 4 +3 more	GConflicting classifications of pathogenicity
Select item 1070175	NM_002439.5(MSH3):c.2620C>T (p.Gln874Ter)	MSH3 (Q874*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +2 more	GPathogenic/Likely pathogenic
Select item 661178	NM_002439.5(MSH3):c.2655+1G>A	MSH3	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 649390	NM_002439.5(MSH3):c.2663C>G (p.Ser888Ter)	MSH3 (S888*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 647814	NM_002439.5(MSH3):c.2668_2671del (p.Glu889_Arg890insTer)	MSH3	Microsatellite (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2673505	NM_002439.5(MSH3):c.2673_2680delinsT (p.Met892fs)	MSH3 (M892fs)	Indel (frameshift variant)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 648549	NM_002439.5(MSH3):c.2686G>A (p.Gly896Arg)	MSH3 (G896R)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 4 +4 more	GUncertain significance
Select item 640896	NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)	MSH3 (G896*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 664031	NM_002439.5(MSH3):c.2695A>G (p.Met899Val)	MSH3 (M899V)	Single nucleotide variant (missense variant)	Endometrial carcinoma +5 more	GUncertain significance
Select item 645737	NM_002439.5(MSH3):c.2695_2696del (p.Met899fs)	MSH3 (M899fs)	Deletion (frameshift variant)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 657673	NM_002439.5(MSH3):c.2735T>G (p.Ile912Ser)	MSH3 (I912S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

<< First< Prev

Page of 2