| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 1 | Bardet-Biedl Syndrome | Autosomal Recessive | 11q13.2 | Missense | BBS1 | c.442G>A | p.Asp148Asn | Amino Acid Substitution | Ajmal et al., 2013/2013 |
| Bardet-Biedl Syndrome 1 | Bardet-Biedl Syndrome | Autosomal Recessive | 11q13 | Substitution | BBS1 | Ile296Thrfs*7 | Frame shift mutation & PTC | Billingsley et al., 2010/2010 | |
| Bardet-Biedl Syndrome 1 | Bardet-Biedl Syndrome | Autosomal Recessive | 11q13 | Splice site | BBS1 | c.47+1G>T | Premature Termination | Ajmal et al., 2013/2013 | |
| Bardet-Biedl Syndrome 1 | Bardet-Biedl Syndrome | Autosomal Recessive | 11q13.2 | Substitution | BBS1 | c.1150G>T | p. Glu384Ter | Missense | Rao et al, 2023/2023 |
| Bardet-Biedl Syndrome 1 | Bardet-Biedl Syndrome 1 | Autosomal Recessive | 11q13.2 | Substitution | BBS1 | c.1339G>A | p.Ala447Thr | Missense | Nawaz et al., 2023/2023 |
| Bardet-Biedl Syndrome 1 | Bardet-Biedl Syndrome | Autosomal Recessive | 11q13.2 | Donor splice site | BBS1 | c.951+1G>A | p? | donor splice site | Nawaz et al., 2023/2023 |
