A: The variant NC_000019.10:g.49862397C>A in gene PNKP is classified as 'Uncertain_significance' for Ataxia_-_oculomotor_apraxia_type_4|Microcephaly,_seizures,_and_developmental_delay|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.