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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(G947R +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+4 more
GPathogenic
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GUncertain significance
ATP1A3
(E815K +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+13 more
GPathogenic
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GUncertain significance
ATP1A3
(D801N +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
ATP1A3
(P775L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP1A3
(R463C +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-related disorder
+5 more
GConflicting classifications of pathogenicity
ATP1A3
(A320P +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+5 more
GPathogenic/Likely pathogenic
ATP1A3
(S137F +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic
ATP1A3
(C55R +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
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