| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leber congenital amaurosis (PRPH2) | Leber congenital amaurosis 18 | Autosomal Recessive | 6p21.1 | Substitution | PRPH2 | c.626T>G | p.Val209Gly | Misense | Zafar et al., 2025/2025 |
