| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 5 | Bardet-Biedl Syndrome | Autosomal Recessive | 2q31.1 | Missense | BBS5 | 2T>A | p.Met1Lys | Amino Acid Substitution | Harville et al., 2010/2010 |
| Bardet-Biedl Syndrome 5 | Bardet-Biedl Syndrome | Autosomal Recessive | 2q31.1 | Delation | BBS5 | c.196delA | p.Arg66Glufs*12 | Frameshift | Nawaz et al., 2023/2023 |
| Bardet-Biedl Syndrome 5 | Bardet-Biedl Syndrome 5 | Autosomal Recessive | 2q31.1 | Deletion | BBS5 | c.734_744del | p.(E245Gfs*18) | Frameshift | Maria et al., 2016/2016 |
