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Links from MedGen

Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TWNK
(A123fs +1 more)
Deletion
(frameshift variant +1 more)
Infantile onset spinocerebellar ataxia
GPathogenic
TWNK
(S199F +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Perrault syndrome 5
+3 more
GUncertain significance
TWNK
(D397G)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
PITRM1, PITRM1-AS1
Duplication
(splice acceptor variant +1 more)
Infantile onset spinocerebellar ataxia
GPathogenic
TWNK
(L432F)
Single nucleotide variant
(missense variant +3 more)
Infantile onset spinocerebellar ataxia
GUncertain significance
TWNK
(G215S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
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)
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
(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)
not provided
+5 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
(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)
not provided
+4 more
GConflicting classifications of pathogenicity
TWNK
(A182T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+4 more
GUncertain significance
TWNK
(R199Q)
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
+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)
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 +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
(L17fs)
Deletion
(frameshift variant +2 more)
Infantile onset spinocerebellar ataxia
GPathogenic
TWNK
(N438K)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
GLikely pathogenic
TWNK
(R543Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TWNK
(R400L)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
GLikely pathogenic
TWNK
(R265C)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial disease
+4 more
GConflicting classifications of pathogenicity
TWNK
(L481V +1 more)
Single nucleotide variant
(missense variant +1 more)
Infantile onset spinocerebellar ataxia
GLikely pathogenic
TWNK
(R357P)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+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
(Y537H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 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)
not provided
+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)
Infantile onset spinocerebellar ataxia
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+4 more
GBenign/Likely benign
TWNK
Single nucleotide variant
(synonymous variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+4 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)
Infantile onset spinocerebellar 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)
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
(non-coding transcript variant +2 more)
not provided
+4 more
GUncertain significance
TWNK
(G26S)
Single nucleotide variant
(missense variant +2 more)
not provided
+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)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
TWNK
(K684Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+6 more
GConflicting classifications of pathogenicity
TWNK
(L81V)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
TWNK
(R302W)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
TWNK
(L112fs)
Deletion
(frameshift variant +2 more)
Infantile onset spinocerebellar ataxia
GPathogenic
TWNK
(N399S)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TWNK
(R682H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+5 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)
not provided
+5 more
GConflicting classifications of pathogenicity
TWNK
(R391H)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar 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)
Autosomal recessive cerebellar ataxia
+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)
Autosomal recessive cerebellar ataxia
+6 more
GConflicting classifications of pathogenicity
TWNK
(P83S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R463W +1 more)
Single nucleotide variant
(missense variant +1 more)
Infantile onset spinocerebellar ataxia
+1 more
GConflicting classifications of pathogenicity
TWNK
(L456V +1 more)
Single nucleotide variant
(missense variant +1 more)
TWNK-related condition
+1 more
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +3 more)
Infantile onset spinocerebellar ataxia
GUncertain significance
TWNK
(A318T)
Single nucleotide variant
(missense variant +2 more)
See cases
GPathogenic
TWNK
(Y508C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TWNK
(T457I +1 more)
Single nucleotide variant
(missense variant +1 more)
Infantile onset spinocerebellar ataxia
GPathogenic
TWNK
(R334Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TWNK
(W474* +1 more)
Single nucleotide variant
(nonsense +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GLikely pathogenic
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