| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Diverse Retinal Phenotypes (CACNA1F) | Sensitivity to light, poor eyesight, and nystagmus | X-linked | Xp11.23 | Missense | CACNA1F | c.2254G > A | Val752Met | Substitution of amino acid | Tareen et al.,/2025 |
