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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TWNK
(R265C)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial disease
+4 more
GConflicting classifications of pathogenicity
TWNK
(A318T)
Single nucleotide variant
(missense variant +2 more)
See cases
GPathogenic
TWNK
(K319E)
Single nucleotide variant
(intron variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GPathogenic
TWNK
(R323Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R391H)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
(N399S)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +3 more)
Infantile onset spinocerebellar ataxia
GUncertain significance
TWNK
(W441G)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
TWNK
(T457I +1 more)
Single nucleotide variant
(missense variant +1 more)
Infantile onset spinocerebellar ataxia
GPathogenic
TWNK
(V507I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TWNK
(Y508C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TWNK
(N585S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GPathogenic
TWNK
(R147Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
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