A: The variant NC_000019.10:g.49861500_49861504dup in gene PNKP is classified as 'Conflicting_classifications_of_pathogenicity' for Developmental_and_epileptic_encephalopathy,_12|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: Duplication. Disease database links: MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:C3661900. Review status: criteria provided, conflicting classifications.