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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(E818K +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+4 more
GPathogenic
ATP1A3
(N773S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ATP1A3
(R756H +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-associated neurological disorder
+6 more
GPathogenic/Likely pathogenic
ATP1A3
(T613M +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+2 more
GPathogenic
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