A: The variant NC_000019.10:g.41970540G>A in gene ATP1A3 is classified as 'Pathogenic/Likely_pathogenic' for Inborn_genetic_diseases|Dystonia_12|Alternating_hemiplegia_of_childhood_2|Cerebellar_ataxia-areflexia-pes_cavus-optic_atrophy-sensorineural_hearing_loss_syndrome|ATP1A3-related_disorder|ATP1A3-associated_neurological_disorder|not_provided|Seizure. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|.|MONDO:MONDO:0700002,MedGen:CN305087|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572. Review status: criteria provided, multiple submitters, no conflicts.