A: The variant NC_000019.10:g.47839727dup in gene CRX is classified as 'Pathogenic' for Leber_congenital_amaurosis_7|Cone-rod_dystrophy_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829,Orphanet:65|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orphanet:1872. Review status: criteria provided, single submitter.