A: The variant NC_000019.10:g.49861782_49861788dup in gene PNKP is classified as 'Pathogenic' for Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_12|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.