A: The variant NC_000020.11:g.35501967G>A in gene CEP250 is classified as 'Pathogenic' for Cone-rod_dystrophy_and_hearing_loss_2. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020780,MedGen:C5193051,OMIM:618358. Review status: criteria provided, single submitter.