| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 6 | Bardet-Biedl Syndrome | Autosomal Recessive | 20p12.2 | Substitution | BBS6/MKKS | 1226G>A | p.Gly409Glu | Missense | Rao et al, 2023/2023 |
| Bardet-Biedl Syndrome 6 | Bardet-Biedl Syndrome | Autosomal Recessive | 20p12.2 | Delation | BBS6/MKKS | c.774delA | Thr259Leufs*21 | Frameshift | Rao et al, 2023/2023 |
| Bardet-Biedl Syndrome 6 | Bardet-Biedl Syndrome | Autosomal Recessive | 20p12.2 | Substitution | BBS6/MKKS | c.748G>A | Gly250Arg | Missense | Rao et al, 2023/2023 |
| Bardet-Biedl Syndrome 6 | Bardet-Biedl Syndrome | Autosomal Recessive | 20p12.2 | Substitution | BBS6/MKKS | c.119C>G | p.Ser40* | Bi-allelic Nonsense | Nawaz et al., 2023/2023 |
