| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Achromatopsia 2 (CNGA3) | Partial or total absence of color vision | Autosomal Recessive | 2q11.2 | Missense | CNGA3 | c.1641C>A | Phe547Leu | Amino acid substitution | 2001/Wissinger et al. 2001 |
| Achromatopsia 2 (CNGA3) | Partial or total absence of color vision | Autosomal Recessive | 2q11.2 | Missense | CNGA3 | c.1306C>T | Arg436Trp | Amino acid substitution | 2015/Saqib et al. 2015 |
| Achromatopsia 2 (CNGA3) | Partial or total absence of color vision | Autosomal Recessive | 2q11.2 | Missense | CNGA3 | c.991G>C | Gly331Arg | Amino acid substitution | 2015/Saqib et al. 2015 |
| Achromatopsia 2 (CNGA3) | Partial or total absence of color vision | Autosomal Recessive | 2q11.2 | Missense | CNGA3 | c.827A>G | Asn276Ser | Amino acid substitution | 2022/Yousaf et al. 2022 |
| Achromatopsia 2 (CNGA3) | Partial or total absence of color vision | Autosomal Recessive | 2q11.2 | Missense | CNGA3 | c.847C>T | Arg283Trp | Amino acid substitution | 2022/Yousaf et al. 2022 |
| Achromatopsia 2 (CNGA3) | Partial or total absence of color vision | Autosomal Recessive | 2q11.2 | Missense | CNGA3 | c.1279C>T | Arg427Cys | Amino acid substitution | 2022/Yousaf et al. 2022 |
| Achromatopsia (CNGA3) | Nystagmus, photophobia, reduced visual acuity, and color vision deficiency | Autosomal Recessive | 2q11.2 | Missense | CNGA3 | c.955T > C | Cys319Arg | Amino Acid Substitution | Tareen et al.,/2025 |
| Achromatopsia (CNGA3) | Nystagmus, photophobia, reduced visual acuity, and color vision deficiency | Autosomal Recessive | 2q11.2 | Framshift | CNGA3 | c.1443dupT | Ile482Hisfs*6 | Premature stop codon | Tareen et al.,/2025 |
| Achromatopsia 2 (CNGA3) | Achromatopsia 2 | Autosomal Recessive | 2q11.2 | Substitution | CNGA3 | c.1720C>G | p.Pro574Ala | Missense | Zafar et al., 2025/2025 |
