ClinVar for MedGen (Select 338613) - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708153	NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)	TWNK (A123fs +1 more)	Deletion (frameshift variant +1 more)	Infantile onset spinocerebellar ataxia	GPathogenic
Select item 1683933	NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe)	TWNK (S199F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Perrault syndrome 5 +3 more	GUncertain significance
Select item 1496673	NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)	TWNK (D397G)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 5 +4 more	GUncertain significance
Select item 1120050	NM_014889.4(PITRM1):c.2236-1dup	PITRM1, PITRM1-AS1	Duplication (splice acceptor variant +1 more)	Infantile onset spinocerebellar ataxia	GPathogenic
Select item 1033571	NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe)	TWNK (L432F)	Single nucleotide variant (missense variant +3 more)	Infantile onset spinocerebellar ataxia	GUncertain significance
Select item 1030770	NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser)	TWNK (G215S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +1 more	GUncertain significance
Select item 880257	NM_021830.5(TWNK):c.*453G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +3 more	GUncertain significance
Select item 880052	NM_021830.5(TWNK):c.913G>A (p.Val305Ile)	TWNK (V305I)	Single nucleotide variant (missense variant +2 more)	not provided +4 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 879092	NM_021830.5(TWNK):c.*561C>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 878940	NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)	TWNK (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 878844	NM_021830.5(TWNK):c.672T>C (p.Ala224=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 878551	NM_021830.5(TWNK):c.*769G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 878511	NM_021830.5(TWNK):c.*552G>C	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +3 more	GUncertain significance
Select item 878456	NM_021830.5(TWNK):c.*346A>C	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 878455	NM_021830.5(TWNK):c.*341G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 878401	NM_021830.5(TWNK):c.1953G>A (p.Lys651=)	TWNK	Single nucleotide variant (3 prime UTR variant +2 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +4 more	GConflicting classifications of pathogenicity
Select item 878400	NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)	TWNK (A182T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more	GUncertain significance
Select item 878242	NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)	TWNK (R199Q)	Single nucleotide variant (missense variant +2 more)	Infantile onset spinocerebellar ataxia +4 more	GUncertain significance
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 877431	NM_021830.5(TWNK):c.*248G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 877377	NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)	TWNK (R155L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 877318	NM_021830.5(TWNK):c.1572C>T (p.His524=)	TWNK	Single nucleotide variant (synonymous variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more	GConflicting classifications of pathogenicity
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 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 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 694436	NM_021830.5(TWNK):c.49del (p.Leu17fs)	TWNK (L17fs)	Deletion (frameshift variant +2 more)	Infantile onset spinocerebellar ataxia	GPathogenic
Select item 694434	NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys)	TWNK (N438K)	Single nucleotide variant (missense variant +2 more)	Infantile onset spinocerebellar ataxia	GLikely pathogenic
Select item 694432	NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln)	TWNK (R543Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694431	NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu)	TWNK (R400L)	Single nucleotide variant (missense variant +2 more)	Infantile onset spinocerebellar ataxia	GLikely pathogenic
Select item 694394	NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)	TWNK (R265C)	Single nucleotide variant (missense variant +2 more)	Mitochondrial disease +4 more	GConflicting classifications of pathogenicity
Select item 638300	NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)	TWNK (L481V +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile onset spinocerebellar ataxia	GLikely pathogenic
Select item 632124	NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)	TWNK (R357P)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more	GConflicting classifications of pathogenicity
Select item 507889	NM_021830.5(TWNK):c.1244-14C>T	TWNK	Single nucleotide variant (intron variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +4 more	GConflicting classifications of pathogenicity
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 383137	NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)	TWNK (Y537H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive cerebellar ataxia +7 more	GConflicting classifications of pathogenicity
Select item 298520	NM_021830.5(TWNK):c.*766A>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GBenign
Select item 298519	NM_021830.5(TWNK):c.*763T>C	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 298518	NM_021830.5(TWNK):c.*747C>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GUncertain significance
Select item 298517	NM_021830.5(TWNK):c.*709C>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 298516	NM_021830.5(TWNK):c.*619G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GUncertain significance
Select item 298515	NM_021830.5(TWNK):c.*574C>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +3 more	GUncertain significance
Select item 298514	NM_021830.5(TWNK):c.*555G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 298513	NM_021830.5(TWNK):c.*521C>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +4 more	GBenign
Select item 298511	NM_021830.5(TWNK):c.*455C>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +4 more	GBenign/Likely benign
Select item 298510	NM_021830.5(TWNK):c.*438G>C	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 298509	NM_021830.5(TWNK):c.*419A>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GConflicting classifications of pathogenicity
Select item 298508	NM_021830.5(TWNK):c.*367A>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 298507	NM_021830.5(TWNK):c.*301C>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GConflicting classifications of pathogenicity
Select item 298506	NM_021830.5(TWNK):c.*234T>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 298505	NM_021830.5(TWNK):c.*204G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 298504	NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)	TWNK (P618L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +4 more	GUncertain significance
Select item 298503	NM_021830.5(TWNK):c.1527C>T (p.Asp509=)	TWNK	Single nucleotide variant (synonymous variant +1 more)	Infantile onset spinocerebellar ataxia +4 more	GBenign/Likely benign
Select item 298502	NM_021830.5(TWNK):c.1488T>C (p.Thr496=)	TWNK	Single nucleotide variant (synonymous variant +1 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 298501	NM_021830.5(TWNK):c.1101C>T (p.Ile367=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 298500	NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)	TWNK (G348R)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 298499	NM_021830.5(TWNK):c.922T>C (p.Leu308=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 298498	NM_021830.5(TWNK):c.492C>T (p.Leu164=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
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 298495	NM_021830.5(TWNK):c.77G>T (p.Gly26Val)	TWNK (G26V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GUncertain significance
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 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 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 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 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 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 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 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 298484	NM_021830.5(TWNK):c.-650A>G	TWNK	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 281415	NM_021830.5(TWNK):c.384C>T (p.Ser128=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 279716	NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)	TWNK (K684Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 279715	NM_021830.5(TWNK):c.241C>G (p.Leu81Val)	TWNK (L81V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 225838	NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)	TWNK (R302W)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 214185	NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)	TWNK (N399S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 214180	NM_021830.5(TWNK):c.2045G>A (p.Arg682His)	TWNK (R682H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive cerebellar ataxia +6 more	GConflicting classifications of pathogenicity
Select item 214178	NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	TWNK (A659T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 214177	NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)	TWNK (K566R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 162048	NM_021830.5(TWNK):c.1172G>A (p.Arg391His)	TWNK (R391H)	Single nucleotide variant (missense variant +2 more)	Infantile onset spinocerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 136594	NM_021830.5(TWNK):c.1735-14C>A	TWNK	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
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 136590	NM_021830.5(TWNK):c.1593-3T>C	TWNK	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia +5 more	GBenign
Select item 136589	NM_021830.5(TWNK):c.1593-5C>T	TWNK	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 136588	NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)	TWNK (V368I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +6 more	GBenign
Select item 136587	NM_021830.5(TWNK):c.639C>T (p.Gly213=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive cerebellar ataxia +6 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 56727	NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)	TWNK (R463W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 56726	NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)	TWNK (L456V +1 more)	Single nucleotide variant (missense variant +1 more)	TWNK-related condition +1 more	GUncertain significance
Select item 21673	NM_021830.5(TWNK):c.1287C>T (p.Ala429=)	TWNK	Single nucleotide variant (synonymous variant +3 more)	Infantile onset spinocerebellar ataxia	GUncertain significance
Select item 4630	NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)	TWNK (A318T)	Single nucleotide variant (missense variant +2 more)	See cases	GPathogenic
Select item 4627	NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)	TWNK (Y508C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4626	NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)	TWNK (T457I +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile onset spinocerebellar ataxia	GPathogenic
Select item 4623	NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)	TWNK (R334Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4619	NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)	TWNK (W474* +1 more)	Single nucleotide variant (nonsense +1 more)	Infantile onset spinocerebellar ataxia +3 more	GLikely pathogenic

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Items: 94