| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 2 | Bardet-Biedl Syndrome | Autosomal Recessive | 16q12.2 | Nonsense | BBS2 | 1237C>T | Arg413* | Premature Termination | Harville et al., 2010/2010 |
| Bardet-Biedl Syndrome 2 | Bardet-Biedl Syndrome | Autosomal Recessive | 16q12.2 | Substitution | BBS2 | c.471G>A | Splice error | Splice error | A.R Rao et al, 2023/2023 |
| Bardet-Biedl Syndrome 2 | Bardet-Biedl Syndrome | Autosomal Recessive | 16q12.2 | Substitution | BBS2 | c.471G>A | Splice error | Splice error | A.R Rao et al, 2023/2023 |
| Bardet-Biedl Syndrome 2 | Bardet-Biedl Syndrome 2 | Autosomal Recessive | 16q12.2 | Substitution | BBS2 | c.1658C>T | p.R413X | Nonsense | Chen et al., 2011/2011 |
