"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156238	NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	ATP1A3 (E818K +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +4 more	GPathogenic
Select item 161138	NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)	ATP1A3 (N773S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 161134	NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	ATP1A3 (R756H +2 more)	Single nucleotide variant (missense variant)	ATP1A3-associated neurological disorder +6 more	GPathogenic/Likely pathogenic
Select item 12909	NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)	ATP1A3 (T613M +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +2 more	GPathogenic
Select item 813816	NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)	ATP1A3 (D609Y +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GConflicting classifications of pathogenicity
Select item 916241	NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp)	ATP1A3 (R597W +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +1 more	GConflicting classifications of pathogenicity

ClinVar