A: The variant NC_000019.10:g.49861676_49861680dup in gene PNKP is classified as 'Pathogenic/Likely_pathogenic' for Developmental_and_epileptic_encephalopathy,_12|Charcot-Marie-Tooth_disease_type_2B2|not_provided|Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589,Orphanet:101101|MedGen:C3661900|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.