A: The variant NC_000019.10:g.49861932_49861933insTCCCCGCTCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAG in gene PNKP is classified as 'Pathogenic' for Developmental_and_epileptic_encephalopathy,_12. Variant type: Insertion. Disease database links: MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722. Review status: criteria provided, single submitter.