| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leber congenital amaurosis (LCA5) | Leber congenital amaurosis 5 | Autosomal Recessive | 6q14.1 | Deletion | LCA5 | c.1151del | p.(Pro384GlnfsTer18) | Frameshift and Premature Stop Codon | Zafar et al., 2025/2025 |
