A: The variant NC_000019.10:g.41975668C>A in gene ATP1A3 is classified as 'Likely_pathogenic' for 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: MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171. Review status: criteria provided, single submitter.