| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cone photoreceptor disorder (CNGA3) | Nystagmus, photophobia, reduced central or color vision, and macular dystrophy | Autosomal Recessive | 2q11.2 | Substitution | CNGA3 | c.827A>G | p.(Asn276Ser) | Missense | Yousaf et al., 2022/2022 |
| Cone photoreceptor disorder (CNGA3) | Nystagmus, photophobia, reduced central or color vision, and macular dystrophy | Autosomal Recessive | 2q11.2 | Substitution | CNGA3 | c.847C>T | p.(Arg283Trp) | Missense | Yousaf et al., 2022/2022 |
| Cone photoreceptor disorder (CNGA3) | Nystagmus, photophobia, reduced central or color vision, and macular dystrophy | Autosomal Recessive | 2q11.2 | Substitution | CNGA3 | c.1279C>T | p.(Arg427Cys) | Missense | Yousaf et al., 2022/2022 |
