| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 3 | Bardet-Biedl Syndrome | Autosomal Recessive | 3q11.2 | Deletion | ARL6 | 231118del53985 | Chen et al., 2011/2011 | ||
| Bardet-Biedl Syndrome 3 | Bardet-Biedl Syndrome | Autosomal Recessive | 3q11.2 | Missense | ARL6 | 281T>C | Ile94Thr | Amino Acid Substitution | Khan et al., 2013/2013 |
| Bardet-Biedl Syndrome 3 | Bardet-Biedl Syndrome | Autosomal Recessive | 3q11.2 | Delation | BBS3 | c.387_394delAAATAAAA | pAsn130GlyfsTer3 | Frameshift | A.R Rao et al, 2023/2023 |
| Bardet-Biedl Syndrome 3 | Bardet-Biedl Syndrome 3 | Autosomal Recessive | 3q11.2 | Substitution | ARL6 | c.534A?>?G | Maria et al., 2016/2016 |
