| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Harboyan Syndrome, Corneal hereditary endothelial dystrophy (SLC4A11) | Corneal hereditary endothelial dystrophy | Autosomal Recessive | 20p13 | SLC4A11 | c.2241- 2A>T | p.Ile748Argfs*4 | Premature Termination | Firasat et al., 2021/2021 |
