A: The variant NC_000019.10:g.41967744C>T in gene ATP1A3 is classified as 'Pathogenic' for Hemiplegia|Epilepsy|Dystonia_12|Cerebellar_ataxia-areflexia-pes_cavus-optic_atrophy-sensorineural_hearing_loss_syndrome|Alternating_hemiplegia_of_childhood_2|not_provided|ATP1A3-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991|MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MedGen:C3661900|.. Review status: criteria provided, multiple submitters, no conflicts.