U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(G947R +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GPathogenic
ATP1A3
(G947R +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
ATP1A3
(D923Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ATP1A3
(D923N +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-associated neurological disorder
+4 more
GPathogenic
ATP1A3
Single nucleotide variant
(splice donor variant)
Dystonia 12
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)
Dystonic disorder
+13 more
GPathogenic
ATP1A3
(S811P +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GPathogenic
ATP1A3
(D801N +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+6 more
GPathogenic
ATP1A3
(T613M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ATP1A3
(R463C +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ATP1A3
(I274N +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GPathogenic
ATP1A3
(R30C +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination