A: The variant NC_000020.11:g.35467035C>T in gene CEP250 is classified as 'Pathogenic' for not_provided|Cone-rod_dystrophy_and_hearing_loss_2. Molecular consequence: SO:0001587: nonsense,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0020780,MedGen:C5193051,OMIM:618358. Review status: criteria provided, multiple submitters, no conflicts.