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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Perrault syndrome 5
+4 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
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GUncertain significance
TWNK
(R265C)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TWNK
(P292T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(A659T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Perrault syndrome 5
+5 more
GConflicting classifications of pathogenicity
TWNK
(N246S)
Single nucleotide variant
(missense variant +2 more)
Perrault syndrome 5
+2 more
GConflicting classifications of pathogenicity
TWNK
(V507I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TWNK
(W441G)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
TWNK
(N585S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GPathogenic
TWNK
(R391H)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
(W474* +1 more)
Single nucleotide variant
(nonsense +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GLikely pathogenic
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