Related gene-specific medical variations for Gene (Select 4437) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375794	NM_002439.5(MSH3):c.178_179insTCGCAGCGC (p.Ala60delinsValAlaAlaPro)	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3368562	NM_002439.5(MSH3):c.166_167insAGGCCGCAGCGGCCGCAG (p.Ala55_Ala56insGluAlaAlaAlaAlaAla)	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3367896	NM_002439.5(MSH3):c.190C>T (p.Pro64Ser)	DHFR, MSH3 (P64S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3359397	NM_002439.5(MSH3):c.1418C>A (p.Thr473Lys)	MSH3 (T473K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3296313	NM_002439.5(MSH3):c.962A>G (p.Asn321Ser)	LOC126807437, MSH3 (N321S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296312	NM_002439.5(MSH3):c.66G>T (p.Ala22=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296306	NM_002439.5(MSH3):c.207C>G (p.Pro69=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296294	NM_002439.5(MSH3):c.211T>C (p.Phe71Leu)	DHFR, MSH3 (F71L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296285	NM_002439.5(MSH3):c.998T>G (p.Leu333Arg)	LOC126807437, MSH3 (L333R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296265	NM_002439.5(MSH3):c.973C>T (p.Leu325Phe)	LOC126807437, MSH3 (L325F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3256428	NM_002439.5(MSH3):c.910-28A>C	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256188	NM_000791.4(DHFR):c.-418_-392del	DHFR, MSH3	Deletion (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3256187	NM_000791.4(DHFR):c.-204T>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3246501	NC_000005.9:g.(?_79961052)_(79962797_?)del	MSH3	Deletion	not provided	GLikely pathogenic
Select item 3246500	NC_000005.9:g.(?_80150123)_(80151028_?)del	MSH3	Deletion	not provided	GLikely pathogenic
Select item 3246499	NC_000005.9:g.(?_80149853)_(80150005_?)del	MSH3	Deletion	not provided	GLikely pathogenic
Select item 3246498	NC_000005.9:g.(?_79970792)_(79974922_?)dup	MSH3	Duplication	not provided	GLikely pathogenic
Select item 3246497	NC_000005.9:g.(?_79960952)_(80171681_?)dup	MSH3	Duplication	not provided	GUncertain significance
Select item 3246495	NC_000005.9:g.(?_80149929)_(80171681_?)dup	MSH3	Duplication	not provided	GUncertain significance
Select item 3246494	NC_000005.9:g.(?_80063742)_(80071587_?)dup	MSH3	Duplication	not provided	GLikely pathogenic
Select item 3246493	NC_000005.9:g.(?_80037273)_(80171681_?)dup	MSH3	Duplication	not provided	GUncertain significance
Select item 3246492	NC_000005.9:g.(?_80021252)_(80038537_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246491	NC_000005.9:g.(?_79974726)_(80024804_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246490	NC_000005.9:g.(?_80071493)_(80074675_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246489	NC_000005.9:g.(?_80063732)_(80088683_?)del	MSH3	Deletion	not provided	GUncertain significance
Select item 3246488	NC_000005.9:g.(?_80040315)_(80074665_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246486	NC_000005.9:g.(?_79974736)_(79974922_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246484	NC_000005.9:g.(?_80057355)_(80057507_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246483	NC_000005.9:g.(?_80024660)_(80024794_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3239784	NM_002439.5(MSH3):c.2930T>G (p.Leu977Arg)	MSH3 (L977R)	Single nucleotide variant (missense variant)	Endometrial carcinoma	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 3239782	NM_002439.5(MSH3):c.1589G>T (p.Ser530Ile)	MSH3 (S530I)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239781	NM_002439.5(MSH3):c.2998G>T (p.Asp1000Tyr)	MSH3 (D1000Y)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239779	NM_002439.5(MSH3):c.710T>A (p.Ile237Lys)	MSH3 (I237K)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239777	NM_002439.5(MSH3):c.2512G>T (p.Ala838Ser)	MSH3 (A838S)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
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 3239775	NM_002439.5(MSH3):c.1729AAG[1] (p.Lys578del)	MSH3 (K578del)	Microsatellite (inframe_deletion)	Endometrial carcinoma	GUncertain significance
Select item 3239773	NM_002439.5(MSH3):c.712G>A (p.Glu238Lys)	MSH3 (E238K)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239772	NM_002439.5(MSH3):c.3179C>A (p.Thr1060Asn)	MSH3 (T1060N)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239771	NM_002439.5(MSH3):c.3144A>T (p.Gln1048His)	MSH3 (Q1048H)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239770	NM_002439.5(MSH3):c.1347G>T (p.Gln449His)	MSH3 (Q449H)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239769	NM_002439.5(MSH3):c.1076T>C (p.Ile359Thr)	MSH3 (I359T)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239768	NM_002439.5(MSH3):c.1828C>G (p.Gln610Glu)	MSH3 (Q610E)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239767	NM_002439.5(MSH3):c.1330A>C (p.Thr444Pro)	MSH3 (T444P)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3239766	NM_002439.5(MSH3):c.784G>C (p.Asp262His)	MSH3 (D262H)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GUncertain significance
Select item 3222316	NM_002439.5(MSH3):c.98G>T (p.Ser33Ile)	DHFR, MSH3 (S33I)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222315	NM_002439.5(MSH3):c.969T>G (p.Ser323Arg)	LOC126807437, MSH3 (S323R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222314	NM_002439.5(MSH3):c.930T>A (p.Thr310=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222312	NM_002439.5(MSH3):c.81C>G (p.Phe27Leu)	DHFR, MSH3 (F27L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222302	NM_002439.5(MSH3):c.55G>A (p.Ala19Thr)	DHFR, MSH3 (A19T)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222299	NM_002439.5(MSH3):c.40T>G (p.Ser14Ala)	DHFR, MSH3 (S14A)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222263	NM_002439.5(MSH3):c.237+4G>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222262	NM_002439.5(MSH3):c.235_237delinsGTG (p.Ile79Val)	DHFR, MSH3 (I79V)	Indel (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GBenign
Select item 3222252	NM_002439.5(MSH3):c.201A>G (p.Pro67=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222236	NM_002439.5(MSH3):c.13A>C (p.Lys5Gln)	DHFR, MSH3 (K5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222221	NM_002439.5(MSH3):c.1010C>T (p.Ser337Phe)	MSH3, LOC126807437 (S337F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3148728	NM_002439.5(MSH3):c.993_994insTC (p.Ala332fs)	MSH3, LOC126807437 (A332fs)	Insertion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 3021557	NM_002439.5(MSH3):c.87G>C (p.Gln29His)	DHFR, MSH3 (Q29H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3009116	NM_002439.5(MSH3):c.125G>T (p.Gly42Val)	DHFR, MSH3 (G42V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3001787	NM_002439.5(MSH3):c.237+19T>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2993396	NM_002439.5(MSH3):c.151_189dup (p.Pro63_Pro64insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaPro)	DHFR, MSH3	Duplication (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2991562	NM_002439.5(MSH3):c.99C>T (p.Ser33=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2986392	NM_002439.5(MSH3):c.114del (p.Ser39fs)	DHFR, MSH3 (S39fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2983686	NM_002439.5(MSH3):c.972A>G (p.Ser324=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975560	NM_002439.5(MSH3):c.78A>C (p.Arg26=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2968110	NM_002439.5(MSH3):c.34G>C (p.Ala12Pro)	DHFR, MSH3 (A12P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2909981	NM_002439.5(MSH3):c.1027+17G>T	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883236	NM_002439.5(MSH3):c.237+5G>C	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2882147	NM_002439.5(MSH3):c.228G>A (p.Pro76=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2877686	NM_002439.5(MSH3):c.133G>T (p.Asp45Tyr)	DHFR, MSH3 (D45Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2865556	NM_002439.5(MSH3):c.13A>G (p.Lys5Glu)	DHFR, MSH3 (K5E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2861078	NM_002439.5(MSH3):c.1010C>G (p.Ser337Cys)	LOC126807437, MSH3 (S337C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854096	NM_002439.5(MSH3):c.915A>G (p.Gly305=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846573	NM_002439.5(MSH3):c.82T>G (p.Phe28Val)	DHFR, MSH3 (F28V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2845317	NM_002439.5(MSH3):c.129A>C (p.Ala43=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2834990	NM_002439.5(MSH3):c.36T>G (p.Ala12=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2816593	NM_002439.5(MSH3):c.65C>G (p.Ala22Gly)	DHFR, MSH3 (A22G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2814349	NM_002439.5(MSH3):c.952del (p.Ile318fs)	LOC126807437, MSH3 (I318fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2810537	NM_002439.5(MSH3):c.110C>T (p.Thr37Ile)	DHFR, MSH3 (T37I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2808231	NM_002439.5(MSH3):c.86del (p.Gln29fs)	DHFR, MSH3 (Q29fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2807709	NM_002439.5(MSH3):c.153_190del (p.Ala52fs)	DHFR, MSH3 (A52fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2795463	NM_002439.5(MSH3):c.910-17T>G	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791324	NM_002439.5(MSH3):c.228G>C (p.Pro76=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2779504	NM_002439.5(MSH3):c.1027+15C>A	MSH3, LOC126807437	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769756	NM_002439.5(MSH3):c.949G>C (p.Ala317Pro)	LOC126807437, MSH3 (A317P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760008	NM_002439.5(MSH3):c.54T>G (p.Pro18=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2759141	NM_002439.5(MSH3):c.1027+7T>C	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2757581	NM_002439.5(MSH3):c.123A>G (p.Thr41=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2754317	NM_002439.5(MSH3):c.77G>T (p.Arg26Leu)	DHFR, MSH3 (R26L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2742817	NM_002439.5(MSH3):c.119C>G (p.Ser40Cys)	DHFR, MSH3 (S40C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2710606	NM_002439.5(MSH3):c.62A>T (p.Gln21Leu)	DHFR, MSH3 (Q21L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2701275	NM_002439.5(MSH3):c.146C>A (p.Pro49His)	DHFR, MSH3 (P49H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2694638	NM_002439.5(MSH3):c.938C>T (p.Ala313Val)	LOC126807437, MSH3 (A313V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691909	NM_000791.4(DHFR):c.-424_-420CGCTGGGGG[2]CGCTGGGGCCGCTG[1]	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2682892	NM_002439.5(MSH3):c.917T>A (p.Val306Asp)	LOC126807437, MSH3 (V306D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682016	NM_002439.5(MSH3):c.507dup (p.Asp170Ter)	MSH3 (D170*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2682015	NM_002439.5(MSH3):c.44G>A (p.Ser15Asn)	DHFR, MSH3 (S15N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2682014	NM_002439.5(MSH3):c.2632G>T (p.Val878Phe)	MSH3 (V878F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682013	NM_002439.5(MSH3):c.2408G>C (p.Cys803Ser)	MSH3 (C803S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682012	NM_002439.5(MSH3):c.1113C>T (p.Ile371=)	MSH3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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