"Sema4, Sema4"[submitter] AND "MSH3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 650237	NM_000791.4(DHFR):c.-254G>A	DHFR, MSH3 (P6S)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +4 more	GUncertain significance
Select item 1692672	NM_002439.5(MSH3):c.28G>A (p.Gly10Ser)	DHFR, MSH3 (G10S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 761930	NM_002439.5(MSH3):c.63A>G (p.Gln21=)	MSH3, DHFR	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1692677	NM_002439.5(MSH3):c.96A>G (p.Gly32=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 757843	NM_000791.4(DHFR):c.-334T>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GLikely benign
Select item 710428	NM_000791.4(DHFR):c.-349G>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1635369	NM_002439.5(MSH3):c.117C>T (p.Ser39=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 848028	NM_002439.5(MSH3):c.127G>A (p.Ala43Thr)	DHFR, MSH3 (A43T)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 639800	NM_002439.5(MSH3):c.143A>C (p.Asp48Ala)	DHFR, MSH3 (D48A)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 847625	NM_002439.5(MSH3):c.144C>G (p.Asp48Glu)	DHFR, MSH3 (D48E)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 760669	NM_002439.5(MSH3):c.144C>T (p.Asp48=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 758975	NM_000791.4(DHFR):c.-384G>C	DHFR, MSH3 (P49R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1157819	NM_002439.5(MSH3):c.150C>G (p.Gly50=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 727279	NM_002439.5(MSH3):c.153TGCAGCGGC[3] (p.Ala62_Pro63insAlaAlaAla)	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 710203	NM_000791.4(DHFR):c.-406CGCTGCAGC[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 769652	NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del)	DHFR, MSH3	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4 +3 more	GBenign/Likely benign
Select item 778209	NM_000791.4(DHFR):c.-400A>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 718446	NM_000791.4(DHFR):c.-418GGCCGCTGC[3]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 790792	NM_000791.4(DHFR):c.-418GGCCGCTGC[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1692660	NM_002439.5(MSH3):c.175G>C (p.Ala59Pro)	DHFR, MSH3 (A59P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692661	NM_002439.5(MSH3):c.177_178insCCCCCA (p.Ala59_Ala60insProPro)	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692662	NM_002439.5(MSH3):c.179_180insGCC (p.Ala60_Ala61insPro)	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 771150	NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 635180	NM_000791.4(DHFR):c.-416C>G	MSH3, DHFR (A60P)	Single nucleotide variant (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 518369	NM_000791.4(DHFR):c.-425_-417dup	DHFR, MSH3	Duplication (5 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 1692664	NM_000791.4(DHFR):c.-420G[5]CGCTGGGGGCG[1]	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 1692663	NM_000791.4(DHFR):c.-420G[5]CG[1]	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 1315751	NM_000791.4(DHFR):c.-437GGGGCGCTG[6]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 787823	NM_000791.4(DHFR):c.-437GGGGCGCTG[4]	DHFR, MSH3	Microsatellite (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 778210	NM_000791.4(DHFR):c.-437GGGGCGCTG[5]	DHFR, MSH3	Microsatellite (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 725804	NM_000791.4(DHFR):c.-419C>G	DHFR, MSH3 (A61P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 218608	NM_000791.4(DHFR):c.-437GGGGCGCTG[3]	MSH3, DHFR	Microsatellite (5 prime UTR variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 717848	NM_000791.4(DHFR):c.-437GGGGCGCTG[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 757890	NM_002439.5(MSH3):c.193G>C (p.Ala65Pro)	DHFR, MSH3 (A65P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 758610	NM_002439.5(MSH3):c.195G>C (p.Ala65=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1692666	NM_002439.5(MSH3):c.196C>G (p.Pro66Ala)	DHFR, MSH3 (P66A)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 402590	NM_000791.4(DHFR):c.-442_-434del	DHFR, MSH3	Deletion (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign
Select item 1692667	NM_000791.4(DHFR):c.-443G>A	DHFR, MSH3 (P69S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 656208	NM_002439.5(MSH3):c.227CGC[3] (p.Pro77_His78insPro)	DHFR, MSH3	Microsatellite (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 766379	NM_002439.5(MSH3):c.225G>A (p.Leu75=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 748710	NM_002439.5(MSH3):c.225G>T (p.Leu75=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	MSH3-related disorder +2 more	GLikely benign
Select item 649836	NM_002439.5(MSH3):c.230C>T (p.Pro77Leu)	DHFR, MSH3 (P77L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 402591	NM_000791.4(DHFR):c.-473T>C	DHFR, MSH3 (I79V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 849780	NM_002439.5(MSH3):c.237+2T>C	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 656666	NM_002439.5(MSH3):c.238-3T>C	MSH3	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 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 1474270	NM_002439.5(MSH3):c.268C>T (p.Pro90Ser)	MSH3 (P90S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 650967	NM_002439.5(MSH3):c.287C>T (p.Pro96Leu)	MSH3 (P96L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 664483	NM_002439.5(MSH3):c.316C>G (p.Gln106Glu)	MSH3 (Q106E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 659546	NM_002439.5(MSH3):c.334G>A (p.Asp112Asn)	MSH3 (D112N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 655708	NM_002439.5(MSH3):c.358+5G>A	MSH3	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 737203	NM_002439.5(MSH3):c.409T>C (p.Leu137=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 653379	NM_002439.5(MSH3):c.411G>C (p.Leu137Phe)	MSH3 (L137F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 662768	NM_002439.5(MSH3):c.421T>C (p.Cys141Arg)	MSH3 (C141R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 653380	NM_002439.5(MSH3):c.433G>T (p.Ala145Ser)	MSH3 (A145S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 647586	NM_002439.5(MSH3):c.470A>G (p.Gln157Arg)	MSH3 (Q157R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 795229	NM_002439.5(MSH3):c.471G>A (p.Gln157=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1692675	NM_002439.5(MSH3):c.515T>C (p.Ile172Thr)	MSH3 (I172T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 647191	NM_002439.5(MSH3):c.517A>G (p.Ser173Gly)	MSH3 (S173G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 757923	NM_002439.5(MSH3):c.522T>A (p.Leu174=)	MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 757606	NM_002439.5(MSH3):c.528C>T (p.His176=)	MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 652371	NM_002439.5(MSH3):c.534G>T (p.Lys178Asn)	MSH3 (K178N)	Single nucleotide variant (missense variant)	Endometrial carcinoma +2 more	GUncertain significance
Select item 662137	NM_002439.5(MSH3):c.553G>C (p.Asp185His)	MSH3 (D185H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 644519	NM_002439.5(MSH3):c.554A>G (p.Asp185Gly)	MSH3 (D185G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 838365	NM_002439.5(MSH3):c.557C>T (p.Ser186Leu)	MSH3 (S186L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 639536	NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)	MSH3 (R188C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 825867	NM_002439.5(MSH3):c.563G>A (p.Arg188His)	MSH3 (R188H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1602157	NM_002439.5(MSH3):c.580-11T>C	MSH3	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 643090	NM_002439.5(MSH3):c.582C>G (p.Asp194Glu)	MSH3 (D194E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 836101	NM_002439.5(MSH3):c.631G>A (p.Glu211Lys)	MSH3 (E211K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 654492	NM_002439.5(MSH3):c.692C>T (p.Pro231Leu)	MSH3 (P231L)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 more	GUncertain significance
Select item 810935	NM_002439.5(MSH3):c.693G>A (p.Pro231=)	MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 826963	NM_002439.5(MSH3):c.731A>G (p.Lys244Arg)	MSH3 (K244R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1500177	NM_002439.5(MSH3):c.747T>G (p.Cys249Trp)	MSH3 (C249W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 641779	NM_002439.5(MSH3):c.886C>T (p.Arg296Cys)	MSH3 (R296C)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 more	GUncertain significance
Select item 822797	NM_002439.5(MSH3):c.888C>T (p.Arg296=)	MSH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 655965	NM_002439.5(MSH3):c.896C>T (p.Ala299Val)	MSH3 (A299V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 765630	NM_002439.5(MSH3):c.915A>T (p.Gly305=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 657862	NM_002439.5(MSH3):c.923A>T (p.Lys308Met)	LOC126807437, MSH3 (K308M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 757371	NM_002439.5(MSH3):c.951C>A (p.Ala317=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1692676	NM_002439.5(MSH3):c.966A>G (p.Arg322=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 756374	NM_002439.5(MSH3):c.988T>C (p.Leu330=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1692678	NM_002439.5(MSH3):c.997C>G (p.Leu333Val)	LOC126807437, MSH3 (L333V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 653871	NM_002439.5(MSH3):c.1027+4T>C	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 647621	NM_002439.5(MSH3):c.1088C>A (p.Thr363Asn)	MSH3 (T363N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1019018	NM_002439.5(MSH3):c.1142A>T (p.Lys381Ile)	MSH3 (K381I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 761154	NM_002439.5(MSH3):c.1149G>A (p.Lys383=)	MSH3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 733688	NM_002439.5(MSH3):c.1160T>A (p.Phe387Tyr)	MSH3 (F387Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 938266	NM_002439.5(MSH3):c.1163T>C (p.Ile388Thr)	MSH3 (I388T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1692655	NM_002439.5(MSH3):c.1173+5G>A	MSH3	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1599013	NM_002439.5(MSH3):c.1174-12A>G	MSH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 759003	NM_002439.5(MSH3):c.1177G>A (p.Val393Met)	MSH3 (V393M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 757367	NM_002439.5(MSH3):c.1194C>T (p.Gly398=)	MSH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 759669	NM_002439.5(MSH3):c.1203G>T (p.Val401=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 649245	NM_002439.5(MSH3):c.1231C>T (p.Arg411Cys)	MSH3 (R411C)	Single nucleotide variant (missense variant)	Endometrial carcinoma +2 more	GUncertain significance
Select item 641454	NM_002439.5(MSH3):c.1238A>C (p.Glu413Ala)	MSH3 (E413A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 641273	NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)	MSH3 (S419*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 750616	NM_002439.5(MSH3):c.1258A>G (p.Ser420Gly)	MSH3 (S420G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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