A: The variant NC_000019.10:g.41970405C>T in gene ATP1A3 is classified as 'Pathogenic' for not_provided|Dystonia_12|Developmental_and_epileptic_encephalopathy_99|Alternating_hemiplegia_of_childhood_2|Cerebellar_ataxia-areflexia-pes_cavus-optic_atrophy-sensorineural_hearing_loss_syndrome|Inborn_genetic_diseases|ATP1A3-related_disorder|Oculogyric_crisis|Tetraparesis|Dystonic_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MeSH:D030342,MedGen:C0950123|.|Human_Phenotype_Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637|Human_Phenotype_Ontology:HP:0002273,Human_Phenotype_Ontology:HP:0002338,MedGen:C0270790|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421. Review status: criteria provided, multiple submitters, no conflicts.