| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary congenital cataract 3 (HCC3,EPHA2) | Cataract 3 | Autosomal Recessive | 1p36.13 | Substitution | EPHA2 | c.2353G>A | p.Ala785Thr | Missense | Jarwar et al., 2021/2021 |
