A: The variant NC_000019.10:g.49861265G>A in gene PNKP is classified as 'Conflicting_classifications_of_pathogenicity' for Charcot-Marie-Tooth_disease_type_2B2|Microcephaly,_seizures,_and_developmental_delay|Developmental_and_epileptic_encephalopathy,_12|Abnormal_cerebral_morphology|Inborn_genetic_diseases|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589,Orphanet:101101|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762|MeSH:D030342,MedGen:C0950123|MedGen:C3661900. Review status: criteria provided, conflicting classifications.