| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 12 | Bardet-Biedl Syndrome | Autosomal Recessive | 4q27 | Missense | BBS12 | c.1589T>C | Leu530Pro | Amino Acid Substitution | Harville et al., 2010/2010 |
| Bardet-Biedl Syndrome 12 | Bardet-Biedl Syndrome | Autosomal Recessive | 4q27 | BBS12 | D480Mfs*3 | Frame shift mutation & PTC | Billingsley et al., 2010/2010 | ||
| Bardet-Biedl Syndrome 12 | Bardet-Biedl Syndrome | Autosomal Recessive | 4q27 | Nonsense | BBS12 | 2103C>A | Ser701* | Premature Termination | Pawlik et al., 2010/2010 |
| Bardet-Biedl Syndrome 12 | Bardet-Biedl Syndrome 12 | Autosomal Recessive | 4q27 | Substitution | BBS12 | c.2014G?>?A | p.(A672T) | Missense | Maria et al., 2016/2016 |
