A: The variant NC_000019.10:g.49861785_49861786insTTAGC in gene PNKP is classified as 'Pathogenic' for Microcephaly,_seizures,_and_developmental_delay. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934. Review status: criteria provided, single submitter.