| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 7 | Bardet-Biedl Syndrome | Autosomal Recessive | 4q27 | Delation | BBS7 | c.580_582delGCA | p.A194del | Inframe delation | Rao et al, 2023/2023 |
