A: The variant NC_000020.11:g.35503540del in gene CEP250 is classified as 'Pathogenic' for Cone-rod_dystrophy_and_hearing_loss_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0020780,MedGen:C5193051,OMIM:618358. Review status: criteria provided, single submitter.