ClinVar for MedGen (Select 987125) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429310	NM_152296.5(ATP1A3):c.358-1G>A	ATP1A3	Single nucleotide variant (splice acceptor variant)	ATP1A3-associated neurological disorder	GLikely pathogenic
Select item 973294	NM_152296.5(ATP1A3):c.1076C>A (p.Ser359Tyr)	ATP1A3 (S372Y +2 more)	Single nucleotide variant (missense variant)	ATP1A3-associated neurological disorder	GLikely pathogenic
Select item 667000	NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn)	ATP1A3 (I777N +2 more)	Single nucleotide variant (missense variant)	ATP1A3-associated neurological disorder +1 more	GPathogenic/Likely pathogenic
Select item 503717	NM_152296.5(ATP1A3):c.410_412del (p.Ser137del)	ATP1A3 (S137del +2 more)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
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 12915	NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)	ATP1A3 (D923N +2 more)	Single nucleotide variant (missense variant)	ATP1A3-associated neurological disorder +4 more	GPathogenic

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