C3553788[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689735	NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)	ATP1A3 (G947W +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1029189	NM_152296.5(ATP1A3):c.2759A>G (p.Gln920Arg)	ATP1A3 (Q933R +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GLikely pathogenic
Select item 37108	NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	ATP1A3 (E815K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99 +13 more	GPathogenic
Select item 37107	NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)	ATP1A3 (D801N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic
Select item 425189	NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	ATP1A3 (R756C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 2499589	NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)	ATP1A3 (T360R +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +1 more	GPathogenic/Likely pathogenic

ClinVar