TOE1[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 163

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1662382	NM_025077.4(TOE1):c.53-16C>G	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599610	NM_025077.4(TOE1):c.58G>C (p.Val20Leu)	TOE1 (V20L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 749248	NM_025077.4(TOE1):c.73A>G (p.Thr25Ala)	TOE1 (T25A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1275525	NM_025077.4(TOE1):c.76T>G (p.Ser26Ala)	TOE1 (S26A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1509373	NM_025077.4(TOE1):c.77C>G (p.Ser26Cys)	TOE1 (S26C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 766496	NM_025077.4(TOE1):c.104C>T (p.Pro35Leu)	TOE1 (P35L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2420769	NM_025077.4(TOE1):c.105C>T (p.Pro35=)	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 2166906	NM_025077.4(TOE1):c.132C>A (p.Phe44Leu)	TOE1 (F44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941004	NM_025077.4(TOE1):c.147A>G (p.Pro49=)	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 2198480	NM_025077.4(TOE1):c.168G>A (p.Lys56=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896500	NM_025077.4(TOE1):c.195+11G>A	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935909	NM_025077.4(TOE1):c.195+12G>A	TOE1	Single nucleotide variant (intron 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 1289869	NM_025077.4(TOE1):c.196-42G>A	TOE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2900736	NM_025077.4(TOE1):c.199C>T (p.Leu67=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307712	NM_025077.4(TOE1):c.204T>G (p.Ser68Arg)	TOE1 (S68R)	Single nucleotide variant (missense variant)	not provided	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 690336	NM_025077.4(TOE1):c.219G>C (p.Arg73Ser)	TOE1 (R73S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
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 2149537	NM_025077.4(TOE1):c.236+7A>G	TOE1	Single nucleotide variant (intron variant)	not provided	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 2015220	NM_025077.4(TOE1):c.237-10C>G	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279928	NM_025077.4(TOE1):c.237-2A>G	TOE1	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
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 1649756	NM_025077.4(TOE1):c.255C>T (p.Tyr85=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374161	NM_025077.4(TOE1):c.261C>T (p.Ala87=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786985	NM_025077.4(TOE1):c.270T>C (p.His90=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1913022	NM_025077.4(TOE1):c.297C>G (p.Ser99=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 417748	NM_025077.4(TOE1):c.307G>A (p.Ala103Thr)	TOE1 (A103T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 1389491	NM_025077.4(TOE1):c.325C>A (p.Pro109Thr)	TOE1 (P109T)	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 1615163	NM_025077.4(TOE1):c.334-15T>G	TOE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2983184	NM_025077.4(TOE1):c.334-11C>T	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3050737	NM_025077.4(TOE1):c.334-5_334-3del	TOE1	Deletion (intron variant)	TOE1-related disorder	GLikely benign
Select item 1976633	NM_025077.4(TOE1):c.337G>A (p.Glu113Lys)	TOE1 (E113K)	Single nucleotide variant (missense variant)	not provided	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 1627672	NM_025077.4(TOE1):c.354T>C (p.Ala118=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533582	NM_025077.4(TOE1):c.360G>A (p.Val120=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2261849	NM_025077.4(TOE1):c.382A>G (p.Met128Val)	TOE1 (M128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2252206	NM_025077.4(TOE1):c.416A>T (p.Gln139Leu)	TOE1 (Q139L)	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 1570921	NM_025077.4(TOE1):c.438C>T (p.Phe146=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 417747	NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)	TOE1 (F148Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2063083	NM_025077.4(TOE1):c.447C>T (p.Asn149=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 849146	NM_025077.4(TOE1):c.448C>T (p.Gln150Ter)	TOE1 (Q150*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1716951	NM_025077.4(TOE1):c.453G>T (p.Gln151His)	TOE1 (Q151H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720686	NM_025077.4(TOE1):c.480G>C (p.Lys160Asn)	TOE1 (K160N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931987	NM_025077.4(TOE1):c.494G>A (p.Gly165Asp)	TOE1 (G165D)	Single nucleotide variant (missense variant)	not provided	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 417749	NM_025077.4(TOE1):c.518T>G (p.Val173Gly)	TOE1 (V173G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
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 1448672	NM_025077.4(TOE1):c.533T>G (p.Leu178Arg)	TOE1 (L178R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993145	NM_025077.4(TOE1):c.534G>A (p.Leu178=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985544	NM_025077.4(TOE1):c.539T>A (p.Leu180Gln)	TOE1 (L180Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1676460	NM_025077.4(TOE1):c.544C>T (p.Arg182Ter)	TOE1 (R182*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 1511327	NM_025077.4(TOE1):c.550C>T (p.Arg184Cys)	TOE1 (R184C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1275738	NM_025077.4(TOE1):c.551G>T (p.Arg184Leu)	TOE1 (R184L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 1895807	NM_025077.4(TOE1):c.553C>T (p.Arg185Trp)	TOE1 (R185W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492285	NM_025077.4(TOE1):c.554G>A (p.Arg185Gln)	TOE1 (R185Q)	Single nucleotide variant (missense variant)	not provided	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 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 2473191	NM_025077.4(TOE1):c.581T>C (p.Ile194Thr)	TOE1 (I194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1550082	NM_025077.4(TOE1):c.615A>G (p.Ala205=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1216637	NM_025077.4(TOE1):c.638C>A (p.Thr213Asn)	TOE1 (T213N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498089	NM_025077.4(TOE1):c.655T>C (p.Cys219Arg)	TOE1 (C219R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417746	NM_025077.4(TOE1):c.658G>A (p.Glu220Lys)	TOE1 (E220K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 1986984	NM_025077.4(TOE1):c.668del (p.Pro223fs)	TOE1 (P223fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 690339	NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter)	TOE1 (Y231*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 690337	NM_025077.4(TOE1):c.716T>C (p.Phe239Ser)	TOE1 (F239S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 739598	NM_025077.4(TOE1):c.717C>T (p.Phe239=)	TOE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 523872	NM_025077.4(TOE1):c.733G>T (p.Glu245Ter)	TOE1 (E245*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1036796	NM_025077.4(TOE1):c.745C>T (p.Arg249Trp)	TOE1 (R249W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1611967	NM_025077.4(TOE1):c.752+9A>G	TOE1	Single nucleotide variant (intron 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 1909486	NM_025077.4(TOE1):c.753-19C>T	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637803	NM_025077.4(TOE1):c.753-17C>T	TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 690338	NM_025077.4(TOE1):c.757C>T (p.Arg253Trp)	TOE1 (R253W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1408651	NM_025077.4(TOE1):c.776G>A (p.Arg259Gln)	TOE1 (R259Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1924920	NM_025077.4(TOE1):c.787A>G (p.Ser263Gly)	TOE1 (S263G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976566	NM_025077.4(TOE1):c.795C>T (p.His265=)	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 2320046	NM_025077.4(TOE1):c.824C>A (p.Ser275Tyr)	TOE1 (S275Y)	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 1601575	NM_025077.4(TOE1):c.827G>C (p.Ser276Thr)	TOE1 (S276T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 2475438	NM_025077.4(TOE1):c.850C>T (p.Arg284Cys)	TOE1 (R284C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1968944	NM_025077.4(TOE1):c.851G>A (p.Arg284His)	TOE1 (R284H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416977	NM_025077.4(TOE1):c.866C>T (p.Pro289Leu)	TOE1 (P289L)	Single nucleotide variant (missense variant)	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 1902904	NM_025077.4(TOE1):c.878G>A (p.Arg293His)	TOE1 (R293H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468965	NM_025077.4(TOE1):c.880C>A (p.Pro294Thr)	TOE1 (P294T)	Single nucleotide variant (missense variant)	not provided	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

<< First< Prev

Page of 2