| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Achromatopsia 3 (CNGB3) | Partial or total absence of color vision | Autosomal Recessive | 8q21.3 | Deletion | CNGB3 | c.1825delG | Val609Trpfs*9 | Frameshift and PTC | 2010/Azam et al. 2010 |
