A: The variant NC_000019.10:g.38142669dup in gene SIPA1L3 is classified as 'Pathogenic' for Cataract_45. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014799,MedGen:C4225182,OMIM:616851,Orphanet:91492. Review status: criteria provided, single submitter.