A: The variant NC_000021.9:g.44333087A>G in gene CFAP410 is classified as 'Pathogenic' for Retinal_dystrophy_with_or_without_macular_staphyloma|Axial_spondylometaphyseal_dysplasia. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0060507,MedGen:C4479651,OMIM:617547,Orphanet:653709|MONDO:MONDO:0011211,MedGen:C1865695,OMIM:602271,Orphanet:168549. Review status: no assertion criteria provided.