A: The variant NC_000019.10:g.49861769_49861778del in gene PNKP is classified as 'Pathogenic/Likely_pathogenic' for Microcephaly,_seizures,_and_developmental_delay|Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia|PNKP-related_disorder|not_provided|Developmental_and_epileptic_encephalopathy,_12. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168|.|MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722. Review status: criteria provided, multiple submitters, no conflicts.