A: The variant NC_000019.10:g.49861609C>T in gene PNKP is classified as 'Conflicting_classifications_of_pathogenicity' for Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_12|not_specified|Microcephaly,_seizures,_and_developmental_delay. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:CN169374|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934. Review status: criteria provided, conflicting classifications.