A: The variant NC_000019.10:g.49862424C>T in gene PNKP is classified as 'Pathogenic' for Abnormality_of_the_nervous_system|not_provided|Microcephaly,_seizures,_and_developmental_delay|Developmental_and_epileptic_encephalopathy,_12. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552|MedGen:C3661900|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722. Review status: criteria provided, multiple submitters, no conflicts.