| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Cataract | Cataract | Autosomal Recessive | Substitution | CRYBB2-CRYBB2P1 | c.463 C>T | p.Gln155* | Nonsense/ Entire genomic deletion of CRYBB2-CRYBB2P1 lead to subsequent fusion of entire region of CRYBB2-CRYBB2P1 | Irum et al., 2022/2022 |
