A: The variant NC_000019.10:g.41984944G>A in gene ATP1A3 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Dystonia_12|Cerebellar_ataxia-areflexia-pes_cavus-optic_atrophy-sensorineural_hearing_loss_syndrome. 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:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171. Review status: criteria provided, multiple submitters, no conflicts.