| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 9 | Bardet-Biedl Syndrome | Autosomal Recessive | 7p14.3 | Deletion | BBS9/PTHB1 | 299delC | Ser100Leufs*24 | Frame shift mutation & PTC | Khan et al., 2016/2016 |
| Bardet-Biedl Syndrome 9 | Bardet-Biedl Syndrome | Autosomal Recessive | 7p14.3 | Substitution | BBS9 | c.223C>T | p.Arg75Ter | Nonsense | A.R Rao et al., 2023/2023 |
| Bardet-Biedl Syndrome 9 | Bardet-Biedl Syndrome | Autosomal Recessive | 7p14.3 | Delation | BBS9 | c.252delA | p.Lys85SerTer39 | Frameshift | A.R Rao et al, 2023/2023 |
| Bardet-Biedl Syndrome 9 | Bardet-Biedl Syndrome 9 | Autosomal Recessive | 7p14.3 | Substitution | BBS9 | c.1789C?>?T | p.(Q597*) | Nonsense | Maria et al., 2016/2016 |
