A: The variant NC_000019.10:g.49867057G>C in gene PNKP is classified as 'Pathogenic' for not_provided|Ataxia_-_oculomotor_apraxia_type_4. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033. Review status: criteria provided, single submitter.