A: The variant NC_000019.10:g.49864178C>A in gene PNKP is classified as 'Pathogenic/Likely_pathogenic' for not_provided|PNKP-related_disorder|Microcephaly,_seizures,_and_developmental_delay|Developmental_and_epileptic_encephalopathy,_12|Charcot-Marie-Tooth_disease_type_2B2. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|.|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589,Orphanet:101101. Review status: criteria provided, multiple submitters, no conflicts.