A: The variant NC_000019.10:g.49861512TG[1] in gene PNKP is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Developmental_and_epileptic_encephalopathy,_12|not_specified. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Microsatellite. Disease database links: MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:CN169374. Review status: criteria provided, conflicting classifications.