| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Cataract (SIX6) | Microphthalmia, anophthalmia, and coloboma (MAC) | Autosomal Recessive | 14q23.1 | Substitution | SIX6 | c.547G>C | p.(Asp183His) | Missense | Panagiotou et al., 2022 /2022 |
