A: The variant NC_000021.9:g.44331845dup in gene CFAP410 is classified as 'Likely_pathogenic' for Retinal_dystrophy_with_or_without_macular_staphyloma. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0060507,MedGen:C4479651,OMIM:617547,Orphanet:653709. Review status: criteria provided, single submitter.