| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Inherited retinal dystrophy (ALMS1) | Retinitis Pigmentosa | Autosomal Recessive | 2p13.1 | Delation | ALMS1 | c.9911_11550del | p.Asn3306Lysfs*7 | Frameshift | Tehreem et al., 2022/2022 |
