ClinVar for Gene (Select 114034) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 318

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367004	NM_025077.4(TOE1):c.581T>A (p.Ile194Lys)	TOE1 (I194K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 3336295	NC_000001.10:g.(?_45794913)_(45806113_?)dup	MUTYH, TOE1	Duplication	not specified	GUncertain significance
Select item 3327972	NM_025077.4(TOE1):c.397A>G (p.Ile133Val)	TOE1 (I133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327970	NM_025077.4(TOE1):c.212G>A (p.Gly71Glu)	TOE1 (G71E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327969	NM_025077.4(TOE1):c.886C>G (p.Pro296Ala)	TOE1 (P296A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297062	NM_001128425.2(MUTYH):c.-5del	MUTYH, TOE1 (A3fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297061	NM_001128425.2(MUTYH):c.24G>A (p.Leu8=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233033	NM_001128425.2(MUTYH):c.20G>C (p.Arg7Pro)	MUTYH, TOE1 (R7P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3180953	NM_025077.4(TOE1):c.977A>C (p.Asp326Ala)	TOE1 (D326A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180952	NM_025077.4(TOE1):c.916T>C (p.Tyr306His)	TOE1 (Y306H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180950	NM_025077.4(TOE1):c.524C>T (p.Thr175Ile)	TOE1 (T175I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180948	NM_025077.4(TOE1):c.1421A>C (p.Asn474Thr)	TOE1 (N474T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3074953	NM_001128425.2(MUTYH):c.36+1G>T	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3072052	NM_001128425.2(MUTYH):c.-3G>C	MUTYH, TOE1 (A2G)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071971	NM_001128425.2(MUTYH):c.-7GGC[1]	MUTYH, TOE1 (A3del)	Microsatellite (inframe_deletion +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071871	NM_001128425.2(MUTYH):c.-10G>A	MUTYH, TOE1	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3068216	NM_025077.4(TOE1):c.974T>C (p.Ile325Thr)	TOE1 (I325T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 3050737	NM_025077.4(TOE1):c.334-5_334-3del	TOE1	Deletion (intron variant)	TOE1-related disorder	GLikely benign
Select item 3022792	NM_001128425.2(MUTYH):c.22C>G (p.Leu8Val)	MUTYH, TOE1 (L8V)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3005217	NM_025077.4(TOE1):c.765T>C (p.Asn255=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000338	NM_025077.4(TOE1):c.805G>T (p.Glu269Ter)	TOE1 (E269*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2993145	NM_025077.4(TOE1):c.534G>A (p.Leu178=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983184	NM_025077.4(TOE1):c.334-11C>T	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976566	NM_025077.4(TOE1):c.795C>T (p.His265=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974348	NM_025077.4(TOE1):c.195+17A>G	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968713	NM_025077.4(TOE1):c.913-12T>A	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903035	NM_025077.4(TOE1):c.1158C>T (p.Ala386=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900736	NM_025077.4(TOE1):c.199C>T (p.Leu67=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898823	NM_025077.4(TOE1):c.1035G>A (p.Arg345=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888588	NM_025077.4(TOE1):c.927C>T (p.Cys309=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865447	NM_001128425.2(MUTYH):c.14_36+4dup	MUTYH, TOE1	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2855065	NM_001128425.2(MUTYH):c.36+13T>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2843361	NM_001128425.2(MUTYH):c.36+13T>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2843230	NM_001128425.2(MUTYH):c.27T>A (p.Ser9Arg)	MUTYH, TOE1 (S9R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2841140	NM_001128425.2(MUTYH):c.30T>C (p.Arg10=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2839228	NM_025077.4(TOE1):c.236+20T>G	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802506	NM_001128425.2(MUTYH):c.36+16G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2791228	NM_001128425.2(MUTYH):c.36+9G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2787998	NM_001128425.2(MUTYH):c.36+14G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2776973	NM_025077.4(TOE1):c.913-17C>G	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2773696	NM_001128425.2(MUTYH):c.-7G>A	MUTYH, TOE1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2759347	NM_001128425.2(MUTYH):c.36+18T>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2723019	NM_025077.4(TOE1):c.1062G>A (p.Gly354=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712704	NM_025077.4(TOE1):c.153C>T (p.Leu51=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708186	NM_025077.4(TOE1):c.1029A>G (p.Glu343=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696355	NM_001128425.2(MUTYH):c.36+6C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2685800	GRCh37/hg19 1p34.1(chr1:45665404-45955823)x3	HPDL, MUTYH +3 more	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2663366	NM_001128425.2(MUTYH):c.-6G>T	MUTYH, TOE1 (A3D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2630730	NM_025077.4(TOE1):c.908_910del (p.Phe303del)	TOE1 (F303del)	Deletion (inframe_deletion)	TOE1-related disorder	GLikely pathogenic
Select item 2616563	NM_025077.4(TOE1):c.1157C>A (p.Ala386Asp)	TOE1 (A386D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610435	NM_025077.4(TOE1):c.509G>T (p.Ser170Ile)	TOE1 (S170I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594609	NM_025077.4(TOE1):c.826A>G (p.Ser276Gly)	TOE1 (S276G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529062	NM_025077.4(TOE1):c.746G>A (p.Arg249Gln)	TOE1 (R249Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525058	NM_025077.4(TOE1):c.1034G>A (p.Arg345Gln)	TOE1 (R345Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504593	NM_025077.4(TOE1):c.1476C>G (p.Phe492Leu)	TOE1 (F492L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 2475438	NM_025077.4(TOE1):c.850C>T (p.Arg284Cys)	TOE1 (R284C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473191	NM_025077.4(TOE1):c.581T>C (p.Ile194Thr)	TOE1 (I194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437176	NM_025077.4(TOE1):c.20A>G (p.Asp7Gly)	MUTYH, TOE1 (D7G)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2423773	NC_000001.10:g.(?_45800053)_(45809328_?)dup	MUTYH, TOE1	Duplication	Familial adenomatous polyposis 2	GUncertain significance
Select item 2422109	NM_025077.4(TOE1):c.371C>T (p.Thr124Ile)	TOE1 (T124I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2420769	NM_025077.4(TOE1):c.105C>T (p.Pro35=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420308	NM_025077.4(TOE1):c.1063A>T (p.Thr355Ser)	TOE1 (T355S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2390433	NM_025077.4(TOE1):c.1264G>A (p.Val422Met)	TOE1 (V422M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389410	NM_025077.4(TOE1):c.19G>A (p.Asp7Asn)	MUTYH, TOE1 (D7N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2320046	NM_025077.4(TOE1):c.824C>A (p.Ser275Tyr)	TOE1 (S275Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284973	NM_025077.4(TOE1):c.433G>A (p.Gly145Ser)	TOE1 (G145S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275954	NM_025077.4(TOE1):c.577C>T (p.Leu193Phe)	TOE1 (L193F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261849	NM_025077.4(TOE1):c.382A>G (p.Met128Val)	TOE1 (M128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255836	NM_025077.4(TOE1):c.1393T>C (p.Ser465Pro)	TOE1 (S465P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252206	NM_025077.4(TOE1):c.416A>T (p.Gln139Leu)	TOE1 (Q139L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230797	NM_025077.4(TOE1):c.1397G>A (p.Gly466Glu)	TOE1 (G466E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2214108	NM_025077.4(TOE1):c.992C>T (p.Ala331Val)	TOE1 (A331V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2199816	NM_025077.4(TOE1):c.1058C>T (p.Pro353Leu)	TOE1 (P353L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198480	NM_025077.4(TOE1):c.168G>A (p.Lys56=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190617	NM_025077.4(TOE1):c.1356C>T (p.Ala452=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187678	NM_025077.4(TOE1):c.1213_1215dup (p.Met405_Gly406insMet)	TOE1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2185350	NM_025077.4(TOE1):c.868G>A (p.Ala290Thr)	TOE1 (A290T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2166906	NM_025077.4(TOE1):c.132C>A (p.Phe44Leu)	TOE1 (F44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155133	NM_025077.4(TOE1):c.718G>A (p.Val240Met)	TOE1 (V240M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149537	NM_025077.4(TOE1):c.236+7A>G	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121748	NM_001128425.2(MUTYH):c.23T>C (p.Leu8Pro)	MUTYH, TOE1 (L8P)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 2120235	NM_025077.4(TOE1):c.1189C>A (p.Gln397Lys)	TOE1 (Q397K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087722	NM_025077.4(TOE1):c.333+12T>C	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084369	NM_025077.4(TOE1):c.837C>T (p.Asp279=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084284	NM_001128425.2(MUTYH):c.32T>C (p.Leu11Pro)	MUTYH, TOE1 (L11P)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2082330	NM_025077.4(TOE1):c.234C>A (p.Asn78Lys)	TOE1 (N78K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081598	NM_025077.4(TOE1):c.1401C>T (p.Pro467=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072851	NM_025077.4(TOE1):c.115G>T (p.Val39Leu)	TOE1 (V39L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072235	NM_025077.4(TOE1):c.1097C>T (p.Pro366Leu)	TOE1 (P366L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2067757	NM_025077.4(TOE1):c.73A>T (p.Thr25Ser)	TOE1 (T25S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2063083	NM_025077.4(TOE1):c.447C>T (p.Asn149=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2053005	NM_025077.4(TOE1):c.242T>C (p.Ile81Thr)	TOE1 (I81T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7 +2 more	GUncertain significance
Select item 2051918	NM_025077.4(TOE1):c.344C>T (p.Ser115Phe)	TOE1 (S115F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042680	NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)	MUTYH, TOE1 (S9fs)	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2037111	NM_001128425.2(MUTYH):c.36+16G>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2026290	NM_025077.4(TOE1):c.1054C>T (p.Leu352=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018641	NM_025077.4(TOE1):c.752+16A>T	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017177	NM_001128425.2(MUTYH):c.36+5G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance

<< First< Prev

Page of 4