| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis pigmentosa 94 (SPATA7) | Retinitis pigmentosa | Autosomal Recessive | 14q31.3 | Duplication | SPATA7 | c.471dup | p.Pro158Alafs *39 | Frameshift | Tehreem et al., 2022/2022 |
