A: The variant NC_000019.10:g.49864212dup in gene PNKP is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases. Molecular consequence: SO:0001587: nonsense. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.