A: The variant NC_000019.10:g.49861554_49861570del in gene PNKP is classified as 'Pathogenic' for Microcephaly,_seizures,_and_developmental_delay|not_provided|PNKP-related_disorder|Developmental_and_epileptic_encephalopathy,_12. Variant type: Deletion. Disease database links: MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MedGen:C3661900|.|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722. Review status: criteria provided, multiple submitters, no conflicts.