"Baylor Genetics"[submitter] AND "DHFR"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676745	NM_002439.5(MSH3):c.4T>A (p.Ser2Thr)	DHFR, MSH3 (S2T)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 1761589	NM_002439.5(MSH3):c.7C>G (p.Arg3Gly)	DHFR, MSH3 (R3G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 854380	NM_002439.5(MSH3):c.7C>T (p.Arg3Cys)	DHFR, MSH3 (R3C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
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 2676774	NM_002439.5(MSH3):c.15del (p.Lys5fs)	DHFR, MSH3 (K5fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 643321	NM_002439.5(MSH3):c.15G>T (p.Lys5Asn)	DHFR, MSH3 (K5N)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 650237	NM_000791.4(DHFR):c.-254G>A	DHFR, MSH3 (P6S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +4 more	GUncertain significance
Select item 640943	NM_002439.5(MSH3):c.22T>C (p.Ser8Pro)	DHFR, MSH3 (S8P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2676736	NM_002439.5(MSH3):c.23C>T (p.Ser8Leu)	DHFR, MSH3 (S8L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 940522	NM_000791.4(DHFR):c.-264C>A	DHFR, MSH3 (G9V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 2676764	NM_002439.5(MSH3):c.53C>T (p.Pro18Leu)	DHFR, MSH3 (P18L)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 2105153	NM_002439.5(MSH3):c.55G>C (p.Ala19Pro)	DHFR, MSH3 (A19P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 663065	NM_002439.5(MSH3):c.59G>A (p.Arg20Lys)	DHFR, MSH3 (R20K)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 1464022	NM_002439.5(MSH3):c.77G>C (p.Arg26Pro)	DHFR, MSH3 (R26P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2676773	NM_002439.5(MSH3):c.96delinsCT (p.Gly32_Ser33insTer)	DHFR, MSH3	Indel (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely 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 940238	NM_002439.5(MSH3):c.98G>A (p.Ser33Asn)	DHFR, MSH3 (S33N)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +2 more	GUncertain significance
Select item 651387	NM_002439.5(MSH3):c.112TCC[2] (p.Ser40del)	DHFR, MSH3 (S40del)	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 643270	NM_002439.5(MSH3):c.110C>A (p.Thr37Asn)	DHFR, MSH3 (T37N)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +2 more	GUncertain significance
Select item 1480055	NM_002439.5(MSH3):c.115T>G (p.Ser39Ala)	DHFR, MSH3 (S39A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 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 650057	NM_002439.5(MSH3):c.122C>T (p.Thr41Ile)	DHFR, MSH3 (T41I)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +3 more	GUncertain significance
Select item 1415892	NM_002439.5(MSH3):c.131_138del (p.Ala44fs)	DHFR, MSH3 (A44fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma +2 more	GPathogenic/Likely pathogenic
Select item 835733	NM_002439.5(MSH3):c.128C>T (p.Ala43Val)	DHFR, MSH3 (A43V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1075635	NM_002439.5(MSH3):c.136C>T (p.Gln46Ter)	DHFR, MSH3 (Q46*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 819042	NM_002439.5(MSH3):c.137A>G (p.Gln46Arg)	DHFR, MSH3 (Q46R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1503166	NM_002439.5(MSH3):c.138G>C (p.Gln46His)	DHFR, MSH3 (Q46H)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 945303	NM_002439.5(MSH3):c.142G>A (p.Asp48Asn)	DHFR, MSH3 (D48N)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 648581	NM_002439.5(MSH3):c.146del (p.Pro49fs)	DHFR, MSH3 (P49fs)	Deletion (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 651887	NM_002439.5(MSH3):c.145C>T (p.Pro49Ser)	DHFR, MSH3 (P49S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2676757	NM_002439.5(MSH3):c.152C>G (p.Ala51Gly)	DHFR, MSH3 (A51G)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +1 more	GUncertain significance
Select item 2676780	NM_002439.5(MSH3):c.161del (p.Ala54fs)	DHFR, MSH3 (A54fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 3239776	NM_002439.5(MSH3):c.166_167insGGGCCGCAG (p.Ala55_Ala56insGlyAlaAla)	DHFR, MSH3	Insertion (inframe_insertion +2 more)	Endometrial carcinoma	GLikely benign
Select item 644086	NM_002439.5(MSH3):c.167C>T (p.Ala56Val)	DHFR, MSH3 (A56V)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +1 more	GUncertain significance
Select item 2676781	NM_002439.5(MSH3):c.169_196del (p.Ala57fs)	DHFR, MSH3 (A57fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 1780742	NM_002439.5(MSH3):c.181G>A (p.Ala61Thr)	DHFR, MSH3 (A61T)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +1 more	GUncertain significance
Select item 952236	NM_002439.5(MSH3):c.191C>A (p.Pro64Gln)	DHFR, MSH3 (P64Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2676748	NM_002439.5(MSH3):c.200dup (p.Ala68fs)	DHFR, MSH3 (A68fs)	Duplication (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 2676741	NM_002439.5(MSH3):c.196C>A (p.Pro66Thr)	DHFR, MSH3 (P66T)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 1783585	NM_002439.5(MSH3):c.196C>T (p.Pro66Ser)	DHFR, MSH3 (P66S)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +1 more	GUncertain significance
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 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 3239783	NM_002439.5(MSH3):c.200C>A (p.Pro67Gln)	DHFR, MSH3 (P67Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 960339	NM_002439.5(MSH3):c.200C>G (p.Pro67Arg)	DHFR, MSH3 (P67R)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +2 more	GUncertain significance
Select item 2676772	NM_002439.5(MSH3):c.202G>A (p.Ala68Thr)	DHFR, MSH3 (A68T)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 856300	NM_000791.4(DHFR):c.-440C>G	DHFR, MSH3 (A68P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 1786093	NM_002439.5(MSH3):c.211_218dup (p.Gln74fs)	DHFR, MSH3 (Q74fs)	Duplication (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 944557	NM_002439.5(MSH3):c.211_230dup (p.His78fs)	DHFR, MSH3 (H78fs)	Duplication (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 661113	NM_002439.5(MSH3):c.209C>T (p.Ala70Val)	DHFR, MSH3 (A70V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1786872	NM_002439.5(MSH3):c.215del (p.Pro72fs)	DHFR, MSH3 (P72fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 1786716	NM_002439.5(MSH3):c.214C>T (p.Pro72Ser)	DHFR, MSH3 (P72S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 820736	NM_002439.5(MSH3):c.215C>T (p.Pro72Leu)	DHFR, MSH3 (P72L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 653190	NM_002439.5(MSH3):c.215C>A (p.Pro72Gln)	DHFR, MSH3 (P72Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +1 more	GUncertain significance
Select item 1787741	NM_002439.5(MSH3):c.220C>T (p.Gln74Ter)	DHFR, MSH3 (Q74*)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 849773	NM_002439.5(MSH3):c.222G>C (p.Gln74His)	DHFR, MSH3 (Q74H)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 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 855748	NM_002439.5(MSH3):c.232C>T (p.His78Tyr)	DHFR, MSH3 (H78Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 849780	NM_002439.5(MSH3):c.237+2T>C	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 663318	NM_002439.5(MSH3):c.237+3A>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 655631	NM_002439.5(MSH3):c.237+4G>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 657647	NM_002439.5(MSH3):c.237+6T>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance

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Items: 64