A: The variant NC_000019.10:g.49865335T>C in gene PNKP is classified as 'Uncertain_significance' for Microcephaly,_seizures,_and_developmental_delay|not_provided|Ataxia_-_oculomotor_apraxia_type_4|Charcot-Marie-Tooth_disease_type_2B2|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_12. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MedGen:C3661900|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589,Orphanet:101101|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722. Review status: criteria provided, multiple submitters, no conflicts.