A: The variant NC_000019.10:g.49865231C>G in gene PNKP is classified as 'Uncertain_significance' for Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.