A: The variant NC_000019.10:g.49861813_49861816dup in gene PNKP is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Developmental_and_epileptic_encephalopathy,_12|Abnormality_of_the_nervous_system|Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.