A: The variant NC_000019.10:g.49863971G>T in gene PNKP is classified as 'Uncertain_significance' for Developmental_and_epileptic_encephalopathy,_12|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.