| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Cataract (FYCO1) | Cataract 18 | Autosomal Recessive | 3p21.31 | Delation | FYCO1 | c.3151-29_3151-7del | ...... | Splice site | Saleem et al., 2022/2022 |
| Congenital Cataract (FYCO1) | Cataract 18 | Autosomal Recessive | 3p21.31 | Substitution | FYCO1 | c.4127T>C | p.Leu1376Pro | Missense | Saleem et al., 2022/2022 |
| Congenital Cataract (FYCO1) | Cataract 18 | Autosomal Recessive | 3p21.31 | Substitution | FYCO1 | c.3419G>A | p.Arg1140Gln | Missense | Saleem et al., 2022/2022 |
