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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(E964K +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GLikely pathogenic
ATP1A3
(G947R +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GPathogenic
ATP1A3
(G947R +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-related condition
+4 more
GPathogenic
ATP1A3
(D923N +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-associated neurological disorder
+4 more
GPathogenic
ATP1A3
(G867D +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ATP1A3
(E818K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
ATP1A3
(E815K +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
+13 more
GPathogenic
ATP1A3
(D801N +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-related condition
+6 more
GPathogenic
ATP1A3
(R756L +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
Gnot provided
ATP1A3
(R756H +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-associated neurological disorder
+6 more
GPathogenic/Likely pathogenic
ATP1A3
(R756C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
ATP1A3
(T613M +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+2 more
GPathogenic
ATP1A3
(I363N +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
Gnot provided
ATP1A3
(G358V +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
Gnot provided
ATP1A3
(G358D +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GPathogenic
ATP1A3
(G316S +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-Related Disorders
+1 more
GPathogenic
ATP1A3
(E277K +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GPathogenic
ATP1A3
(V129M +2 more)
Single nucleotide variant
(missense variant)
Juvenile onset psychosis
+2 more
GPathogenic/Likely pathogenic
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