A: The variant NC_000019.10:g.49862726dup in gene PNKP is classified as 'Likely_pathogenic' for Microcephaly,_seizures,_and_developmental_delay. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934. Review status: no assertion criteria provided.