A: The variant NC_000020.11:g.35479342C>T in gene CEP250 is classified as 'Pathogenic' for Cone-rod_dystrophy_and_hearing_loss_2|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020780,MedGen:C5193051,OMIM:618358|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.