"Sema4, Sema4"[submitter] AND "DHFR"[gene] - ClinVar

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Items: 44

	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=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +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)	MSH3-related disorder +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)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1635369	NM_002439.5(MSH3):c.117C>T (p.Ser39=)	MSH3, DHFR	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)	not provided +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)	not provided +1 more	GUncertain significance
Select item 760669	NM_002439.5(MSH3):c.144C>T (p.Asp48=)	MSH3, DHFR	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +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)	MSH3-related disorder +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)	not provided +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	DHFR, MSH3 (A60P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +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)	not specified +2 more	GBenign/Likely benign
Select item 778210	NM_000791.4(DHFR):c.-437GGGGCGCTG[5]	MSH3, DHFR	Microsatellite (inframe_insertion +2 more)	not provided +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)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 218608	NM_000791.4(DHFR):c.-437GGGGCGCTG[3]	DHFR, MSH3	Microsatellite (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +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)	not specified +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)	Hereditary cancer-predisposing syndrome +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)	not provided +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)	Endometrial carcinoma +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)	Constitutional megaloblastic anemia with severe neurologic disease +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)	Endometrial carcinoma +2 more	GPathogenic/Likely pathogenic

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Items: 44