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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2AK2
(G138A)
Single nucleotide variant
(missense variant)
Dystonia 33
GUncertain significance
EIF2AK2
(G130R)
Single nucleotide variant
(missense variant)
Dystonia 33
GLikely pathogenic
EIF2AK2
(G130R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EIF2AK2
(N32T)
Single nucleotide variant
(missense variant)
Dystonia 33
GUncertain significance
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