A: The variant NC_000020.11:g.35490697del in gene CEP250 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|CEP250-related_disorder. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|.. Review status: criteria provided, multiple submitters, no conflicts.