| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Juvenile cone-rod dystrophy (CNGA3) | Cone-rod dystrophy, maculopathy | Autosomal Recessive | 2q11.2 | Missense | CNGA3 | c.955T>C | Cys319Arg | Amino acid substitution | 2015/Shaikh et al. 2015 |
