A: The variant NC_000019.10:g.49864072C>G in gene PNKP is classified as 'Likely_pathogenic' for Charcot-Marie-Tooth_disease_type_2B2. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589,Orphanet:101101. Review status: criteria provided, single submitter.