A: The variant NC_000019.10:g.47839883_47839885delinsAA in gene CRX is classified as 'Pathogenic' for Retinal_dystrophy|Cone-rod_dystrophy_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orphanet:1872. Review status: no assertion criteria provided.