ClinVar for Gene (Select 1719) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 660

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3246487	NC_000005.9:g.(?_79949868)_(80088673_?)del	DHFR, MSH3	Deletion	not provided	GPathogenic
Select item 3246482	NC_000005.9:g.(?_79950547)_(80171681_?)del	DHFR, MSH3	Deletion	not provided	GPathogenic
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 3239776	NM_002439.5(MSH3):c.166_167insGGGCCGCAG (p.Ala55_Ala56insGlyAlaAla)	DHFR, MSH3	Insertion (inframe_insertion +2 more)	Endometrial carcinoma	GLikely benign
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 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 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 2991030	NM_000791.4(DHFR):c.485+9A>G	DHFR	Single nucleotide variant (intron variant)	not provided	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 2986300	NM_000791.4(DHFR):c.87-20G>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980516	NM_000791.4(DHFR):c.546A>G (p.Val182=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	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 2909510	NM_000791.4(DHFR):c.195T>C (p.Asn65=)	DHFR	Single nucleotide variant (synonymous variant +1 more)	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 2880982	NM_000791.4(DHFR):c.136+14A>G	DHFR	Single nucleotide variant (intron variant)	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 2860523	NM_000791.4(DHFR):c.485+13T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857009	NM_000791.4(DHFR):c.136+9G>T	DHFR	Single nucleotide variant (intron 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 2838018	NM_000791.4(DHFR):c.370-15T>C	DHFR	Single nucleotide variant (intron variant)	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 2825138	NM_000791.4(DHFR):c.513G>A (p.Gln171=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2818339	NM_000791.4(DHFR):c.370-25_370-19del	DHFR	Deletion (intron variant)	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 2815734	NM_000791.4(DHFR):c.63G>C (p.Gly21=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2809485	NM_000791.4(DHFR):c.137-20C>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2806547	NM_000791.4(DHFR):c.242+15A>G	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802241	NM_000791.4(DHFR):c.370-18T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795232	NM_000791.4(DHFR):c.370-14_370-12del	DHFR	Microsatellite (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 2772176	NM_000791.4(DHFR):c.136+19G>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2757246	NM_000791.4(DHFR):c.243-16C>G	DHFR	Single nucleotide variant (intron variant)	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 2717847	NM_000791.4(DHFR):c.501C>G (p.Leu167=)	DHFR (L129V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 2673975	NM_002439.5(MSH3):c.-34_-10dup	DHFR, MSH3	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 4	GBenign
Select item 2673932	NM_002439.5(MSH3):c.-30_-18dup	DHFR, MSH3	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 4	GBenign
Select item 2673571	NM_002439.5(MSH3):c.61C>T (p.Gln21Ter)	DHFR, MSH3 (Q21*)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673556	NM_002439.5(MSH3):c.85del (p.Gln29fs)	DHFR, MSH3 (Q29fs)	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673531	NM_002439.5(MSH3):c.90dup (p.Thr31fs)	DHFR, MSH3 (T31fs)	Duplication (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673506	NM_002439.5(MSH3):c.36del (p.Ala13fs)	DHFR, MSH3 (A13fs)	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673497	NM_002439.5(MSH3):c.85C>T (p.Gln29Ter)	DHFR, MSH3 (Q29*)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2655571	NM_002439.5(MSH3):c.178CCCCCAGCG[3] (p.Ala59_Ala60insProProAlaProProAlaProProAla)	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2635185	NM_002439.5(MSH3):c.221A>G (p.Gln74Arg)	DHFR, MSH3 (Q74R)	Single nucleotide variant (5 prime UTR variant +2 more)	MSH3-related disorder	GUncertain significance
Select item 2586077	NM_002439.5(MSH3):c.106T>C (p.Ser36Pro)	DHFR, MSH3 (S36P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586075	NM_002439.5(MSH3):c.-1C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586065	NM_002439.5(MSH3):c.154G>A (p.Ala52Thr)	DHFR, MSH3 (A52T)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586057	NM_002439.5(MSH3):c.88T>A (p.Ser30Thr)	DHFR, MSH3 (S30T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2575341	NM_000791.4(DHFR):c.-420_-419insGGGGCGCTGCGGCCGCTG	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2575340	NM_000791.4(DHFR):c.-420GGGGGCGCT[2]G[5]CG[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2575339	NM_000791.4(DHFR):c.-425GCGCTGCGG[3]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2575338	NM_000791.4(DHFR):c.-415_-400del	DHFR, MSH3 (A55fs)	Deletion (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2575337	NM_000791.4(DHFR):c.-214C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2575124	NM_000791.4(DHFR):c.-444G>A	DHFR, MSH3 (P69L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2565687	NM_002439.5(MSH3):c.42C>T (p.Ser14=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2565673	NM_002439.5(MSH3):c.35C>G (p.Ala12Gly)	DHFR, MSH3 (A12G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565660	NM_002439.5(MSH3):c.213C>G (p.Phe71Leu)	DHFR, MSH3 (F71L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565651	NM_002439.5(MSH3):c.46T>A (p.Ser16Thr)	DHFR, MSH3 (S16T)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2482282	NM_002439.5(MSH3):c.203C>G (p.Ala68Gly)	DHFR, MSH3 (A68G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

<< First< Prev

Page of 7