| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis pigmentosa 32 (CLCC1) | Retinitis pigmentosa 32 | Autosomal Recessive | 1p13.3 | Substitution | CLCC1 | c. 75C>A | p.D25E | Missense | Ma et al., 2022/2022 |
