A: The variant NC_000019.10:g.49861770A>T in gene PNKP is classified as 'Likely_pathogenic' for Microcephaly,_seizures,_and_developmental_delay|Ataxia_-_oculomotor_apraxia_type_4. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033. Review status: criteria provided, single submitter.