TWNK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 298484	NM_021830.5(TWNK):c.-650A>G	TWNK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 298485	NM_021830.5(TWNK):c.-644A>T	TWNK	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +3 more	GUncertain significance
Select item 877083	NM_021830.5(TWNK):c.-622C>T	TWNK	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 136593	NM_021830.5(TWNK):c.-605G>T	TWNK	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +4 more	GBenign
Select item 878124	NM_021830.5(TWNK):c.-592C>T	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +4 more	GUncertain significance
Select item 298486	NM_021830.5(TWNK):c.-585T>G	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GUncertain significance
Select item 879588	NM_021830.5(TWNK):c.-584G>C	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 298487	NM_021830.5(TWNK):c.-549G>A	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 298488	NM_021830.5(TWNK):c.-470G>A	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GUncertain significance
Select item 298489	NM_021830.5(TWNK):c.-423C>T	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 877145	NM_021830.5(TWNK):c.-418C>T	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 298490	NM_021830.5(TWNK):c.-306GT[1]	TWNK	Microsatellite (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome +4 more	GLikely benign
Select item 877146	NM_021830.5(TWNK):c.-304G>A	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 298491	NM_021830.5(TWNK):c.-290G>C	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GConflicting classifications of pathogenicity
Select item 298492	NM_021830.5(TWNK):c.-241C>T	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +4 more	GLikely benign
Select item 298493	NM_021830.5(TWNK):c.-105T>C	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome +3 more	GUncertain significance
Select item 1649115	NM_021830.5(TWNK):c.12C>A (p.Leu4=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2887866	NM_021830.5(TWNK):c.16C>A (p.Arg6=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2109555	NM_021830.5(TWNK):c.16C>T (p.Arg6Ter)	TWNK (R6*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2106119	NM_021830.5(TWNK):c.20G>T (p.Ser7Ile)	TWNK (S7I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2906438	NM_021830.5(TWNK):c.29C>A (p.Pro10His)	TWNK (P10H)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 772439	NM_021830.5(TWNK):c.30C>G (p.Pro10=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 380984	NM_021830.5(TWNK):c.30C>T (p.Pro10=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3047162	NM_021830.5(TWNK):c.33C>A (p.Leu11=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	TWNK-related disorder	GLikely benign
Select item 694436	NM_021830.5(TWNK):c.49del (p.Leu17fs)	TWNK (L17fs)	Deletion (non-coding transcript variant +2 more)	Infantile onset spinocerebellar ataxia	GPathogenic
Select item 2139689	NM_021830.5(TWNK):c.47C>T (p.Pro16Leu)	TWNK (P16L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3185085	NM_021830.5(TWNK):c.50T>C (p.Leu17Pro)	TWNK (L17P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2753780	NM_021830.5(TWNK):c.50T>A (p.Leu17Gln)	TWNK (L17Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2183621	NM_021830.5(TWNK):c.53G>A (p.Arg18His)	TWNK (R18H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 426493	NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)	TWNK (G19E)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 1163331	NM_021830.5(TWNK):c.68del (p.Gly23fs)	TWNK (G23fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2028553	NM_021830.5(TWNK):c.68G>C (p.Gly23Ala)	TWNK (G23A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1694569	NM_021830.5(TWNK):c.72del (p.Arg25fs)	TWNK (R25fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 719153	NM_021830.5(TWNK):c.75G>A (p.Arg25=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 298494	NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)	TWNK (G26S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 298495	NM_021830.5(TWNK):c.77G>T (p.Gly26Val)	TWNK (G26V)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more	GUncertain significance
Select item 2968871	NM_021830.5(TWNK):c.84C>G (p.Pro28=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2136924	NM_021830.5(TWNK):c.85C>T (p.Arg29Ter)	TWNK (R29*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1935630	NM_021830.5(TWNK):c.85C>A (p.Arg29=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3027215	NM_021830.5(TWNK):c.95C>G (p.Ala32Gly)	TWNK (A32G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3030658	NM_021830.5(TWNK):c.104C>T (p.Pro35Leu)	TWNK (P35L)	Single nucleotide variant (missense variant +2 more)	TWNK-related disorder	GUncertain significance
Select item 1694043	NM_021830.5(TWNK):c.107C>T (p.Pro36Leu)	TWNK (P36L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1348729	NM_021830.5(TWNK):c.115C>T (p.Arg39Cys)	TWNK (R39C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 388307	NM_021830.5(TWNK):c.116G>A (p.Arg39His)	TWNK (R39H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2723128	NM_021830.5(TWNK):c.122G>A (p.Arg41Lys)	TWNK (R41K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2113454	NM_021830.5(TWNK):c.122G>C (p.Arg41Thr)	TWNK (R41T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2083029	NM_021830.5(TWNK):c.139G>A (p.Ala47Thr)	TWNK (A47T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1954954	NM_021830.5(TWNK):c.168T>A (p.Thr56=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1285140	NM_021830.5(TWNK):c.169G>A (p.Ala57Thr)	TWNK (A57T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712661	NM_021830.5(TWNK):c.181C>T (p.Arg61Cys)	TWNK (R61C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1309254	NM_021830.5(TWNK):c.193C>T (p.Arg65Trp)	TWNK (R65W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 422970	NM_021830.5(TWNK):c.198dup (p.His67fs)	TWNK (H67fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2640760	NM_021830.5(TWNK):c.196G>A (p.Gly66Arg)	TWNK (G66R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 515988	NM_021830.5(TWNK):c.198G>A (p.Gly66=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1941139	NM_021830.5(TWNK):c.204G>A (p.Gly68=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2034275	NM_021830.5(TWNK):c.208C>T (p.Pro70Ser)	TWNK (P70S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2506045	NM_021830.5(TWNK):c.209C>T (p.Pro70Leu)	TWNK (P70L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1331220	NM_021830.5(TWNK):c.223C>T (p.His75Tyr)	TWNK (H75Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1433115	NM_021830.5(TWNK):c.238G>A (p.Ala80Thr)	TWNK (A80T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2862519	NM_021830.5(TWNK):c.240A>C (p.Ala80=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 279715	NM_021830.5(TWNK):c.241C>G (p.Leu81Val)	TWNK (L81V)	Single nucleotide variant (missense variant +2 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 56728	NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)	TWNK (P83S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 872774	NM_021830.5(TWNK):c.248C>T (p.Pro83Leu)	TWNK (P83L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2572341	NM_021830.5(TWNK):c.252dup (p.Ala85fs)	TWNK (A85fs)	Duplication (frameshift variant +2 more)	TWNK-related disorder	GLikely pathogenic
Select item 1963978	NM_021830.5(TWNK):c.261T>G (p.Ser87=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1345445	NM_021830.5(TWNK):c.267G>T (p.Gln89His)	TWNK (Q89H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 298496	NM_021830.5(TWNK):c.274G>A (p.Gly92Ser)	TWNK (G92S)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome +3 more	GUncertain significance
Select item 298497	NM_021830.5(TWNK):c.276C>T (p.Gly92=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GUncertain significance
Select item 1302616	NM_021830.5(TWNK):c.284G>C (p.Gly95Ala)	TWNK (G95A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1344253	NM_021830.5(TWNK):c.286G>A (p.Val96Ile)	TWNK (V96I)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1514850	NM_021830.5(TWNK):c.290C>G (p.Thr97Ser)	TWNK (T97S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2124230	NM_021830.5(TWNK):c.297C>T (p.Ser99=)	TWNK	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2442112	NM_021830.5(TWNK):c.299T>G (p.Phe100Cys)	TWNK (F100C)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GUncertain significance
Select item 2691346	NM_021830.5(TWNK):c.309C>T (p.Phe103=)	TWNK	Single nucleotide variant (intron variant +2 more)	not specified	GLikely benign
Select item 225837	NM_021830.5(TWNK):c.333del (p.Leu112fs)	TWNK (L112fs)	Deletion (frameshift variant +2 more)	Infantile onset spinocerebellar ataxia	GPathogenic
Select item 214181	NM_021830.5(TWNK):c.338G>C (p.Cys113Ser)	TWNK (C113S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214172	NM_021830.5(TWNK):c.340A>T (p.Met114Leu)	TWNK (M114L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1303544	NM_021830.5(TWNK):c.341T>G (p.Met114Arg)	TWNK (M114R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1524352	NM_021830.5(TWNK):c.352G>A (p.Ala118Thr)	TWNK (A118T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2786073	NM_021830.5(TWNK):c.362G>A (p.Ser121Asn)	TWNK (S121N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3003874	NM_021830.5(TWNK):c.369A>G (p.Glu123=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 281415	NM_021830.5(TWNK):c.384C>T (p.Ser128=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 1200366	NM_021830.5(TWNK):c.385G>A (p.Val129Met)	TWNK (V129M)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1311777	NM_021830.5(TWNK):c.388G>C (p.Glu130Gln)	TWNK (E130Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2113455	NM_021830.5(TWNK):c.390G>A (p.Glu130=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2096817	NM_021830.5(TWNK):c.392G>A (p.Gly131Glu)	TWNK (G131E)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2131033	NM_021830.5(TWNK):c.395G>A (p.Arg132Gln)	TWNK (R132Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 806558	NM_021830.5(TWNK):c.404G>A (p.Gly135Glu)	TWNK (G135E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2498468	NM_021830.5(TWNK):c.413A>C (p.Glu138Ala)	TWNK (E138A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2014193	NM_021830.5(TWNK):c.416G>T (p.Gly139Val)	TWNK (G139V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2133652	NM_021830.5(TWNK):c.417G>T (p.Gly139=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2777468	NM_021830.5(TWNK):c.428G>A (p.Ser143Asn)	TWNK (S143N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214173	NM_021830.5(TWNK):c.434C>T (p.Ala145Val)	TWNK (A145V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2640761	NM_021830.5(TWNK):c.437dup (p.Glu147fs)	TWNK (E147fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1982840	NM_021830.5(TWNK):c.453C>T (p.Ser151=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 2898498	NM_021830.5(TWNK):c.454G>C (p.Glu152Gln)	TWNK (E152Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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