ClinVar for MedGen (Select 373087) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064861	NM_021830.5(TWNK):c.827C>T (p.Thr276Met)	TWNK (T276M)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GUncertain significance
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 2429279	NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)	TWNK (R240*)	Single nucleotide variant (nonsense +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GLikely pathogenic
Select item 1971622	NM_021830.5(TWNK):c.905G>A (p.Arg302Gln)	TWNK (R302Q)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +1 more	GUncertain significance
Select item 1907938	NM_021830.5(TWNK):c.1826G>A (p.Arg609His)	TWNK (R609H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +2 more	GUncertain significance
Select item 1687171	NM_021830.5(TWNK):c.1433T>G (p.Phe478Cys)	TWNK (F24C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 1679234	NM_021830.5(TWNK):c.868T>A (p.Leu290Ile)	TWNK (L290I)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	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 981929	NM_021830.5(TWNK):c.1566G>A (p.Met522Ile)	TWNK (M522I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 975884	NM_021830.5(TWNK):c.649C>T (p.Arg217Ter)	TWNK (R217*)	Single nucleotide variant (nonsense +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GLikely pathogenic
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 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 426102	NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr)	TWNK (P335T)	Single nucleotide variant (missense variant +2 more)	not provided +1 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 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 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 4629	NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)	TWNK (R374W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 4628	NM_021830.5(TWNK):c.908G>A (p.Arg303Gln)	TWNK (R303Q)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 4625	NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)	TWNK (K319E)	Single nucleotide variant (intron variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GPathogenic
Select item 4624	NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr)	TWNK (S369Y)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	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 4622	NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro)	TWNK (L381P)	Single nucleotide variant (missense variant +2 more)	Mitochondrial disease +1 more	GPathogenic
Select item 4621	NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro)	TWNK (R354P)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GPathogenic
Select item 4620	NM_021830.5(TWNK):c.944G>T (p.Trp315Leu)	TWNK (W315L)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GPathogenic
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
Select item 4618	NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)	TWNK (A359T)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +1 more	GPathogenic/Likely pathogenic
Select item 4617	NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro)	TWNK (A475P +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GPathogenic
Select item 4616	NM_021830.5(TWNK):c.1054_1092dup (p.His364_Lys365insLeuSerArgIleLeuArgThrAlaLeuProAlaTrpHis)	TWNK	Duplication (inframe_insertion +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	GPathogenic

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Items: 95