A: The variant NC_000019.10:g.49861843AC[1] in gene PNKP is classified as 'Pathogenic' for Ataxia_-_oculomotor_apraxia_type_4. Molecular consequence: SO:0001587: nonsense. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033. Review status: criteria provided, single submitter.