A: The variant NC_000020.11:g.35497875C>T in gene CEP250 is classified as 'Pathogenic/Likely_pathogenic' for Cone-rod_dystrophy_and_hearing_loss_2|Usher_syndrome|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020780,MedGen:C5193051,OMIM:618358|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.