A: The variant NC_000019.10:g.49861304G>A in gene PNKP is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, conflicting classifications.