A: The variant NC_000019.10:g.49861671_49861672insCGGCT in gene PNKP is classified as 'Pathogenic' for Ataxia_-_oculomotor_apraxia_type_4. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033. Review status: no assertion criteria provided.