A: The variant NC_000020.11:g.17497089_17500424del in gene BFSP1 is classified as 'Pathogenic' for Cataract_33. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0012665,MedGen:C3808107,OMIM:611391,Orphanet:91492. Review status: no assertion criteria provided.