U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TWNK
(T276M)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GUncertain significance
TWNK
(F100C)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GUncertain significance
TWNK
(R240*)
Single nucleotide variant
(nonsense +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GLikely pathogenic
TWNK
(R302Q)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+1 more
GUncertain significance
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
TWNK
(F24C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TWNK
(S199F +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Perrault syndrome 5
+3 more
GUncertain significance
TWNK
(L290I)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GUncertain significance
TWNK
(D397G)
Single nucleotide variant
(missense variant +2 more)
Perrault syndrome 5
+4 more
GUncertain significance
TWNK
(M522I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TWNK
(R217*)
Single nucleotide variant
(nonsense +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GLikely pathogenic
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+3 more
GUncertain significance
TWNK
(V305I)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
(A79T +1 more)
Single nucleotide variant
(missense variant +1 more)
Infantile onset spinocerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +2 more)
TWNK-related disorder
+5 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+4 more
GConflicting classifications of pathogenicity
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
TWNK
(R199Q)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
(R155L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
(R357P)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(intron variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+4 more
GConflicting classifications of pathogenicity
TWNK
(G19E)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
(P335T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TWNK
(Y537H +1 more)
Single nucleotide variant
(missense variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+7 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GBenign
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+4 more
GBenign
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+4 more
GBenign/Likely benign
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
TWNK
(P618L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +1 more)
Infantile onset spinocerebellar ataxia
+4 more
GBenign/Likely benign
TWNK
Single nucleotide variant
(synonymous variant +1 more)
TWNK-related disorder
+5 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive cerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
TWNK
(G348R)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
(G26V)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+4 more
GUncertain significance
TWNK
(G26S)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+4 more
GLikely benign
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +2 more)
Infantile onset spinocerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
TWNK
(L81V)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
TWNK
(R302W)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TWNK
(N399S)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+4 more
GConflicting classifications of pathogenicity
TWNK
(R682H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+6 more
GConflicting classifications of pathogenicity
TWNK
(A659T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Perrault syndrome 5
+5 more
GConflicting classifications of pathogenicity
TWNK
(K566R +1 more)
Single nucleotide variant
(missense variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+6 more
GConflicting classifications of pathogenicity
TWNK
(R391H)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(intron variant)
Autosomal recessive cerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+4 more
GBenign
TWNK
Single nucleotide variant
(intron variant)
Autosomal recessive cerebellar ataxia
+5 more
GBenign
TWNK
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
TWNK
(V368I)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+6 more
GBenign
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not specified
+6 more
GConflicting classifications of pathogenicity
TWNK
(R374W)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely pathogenic
TWNK
(R303Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
TWNK
(K319E)
Single nucleotide variant
(intron variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GPathogenic
TWNK
(S369Y)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GPathogenic
TWNK
(R334Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TWNK
(L381P)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial disease
+1 more
GPathogenic
TWNK
(R354P)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GPathogenic
TWNK
(W315L)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GPathogenic
TWNK
(W474* +1 more)
Single nucleotide variant
(nonsense +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GLikely pathogenic
TWNK
(A359T)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+1 more
GPathogenic/Likely pathogenic
TWNK
(A475P +1 more)
Single nucleotide variant
(missense variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GPathogenic
TWNK
Duplication
(inframe_insertion +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GPathogenic
Format
Items per page
Sort by
Choose Destination