| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 18 | Rod-cone dystrophy, learning difficulties, renal abnormalities, male hypogonadism, post-axial polydactyly, and obesity | Autosomal Recessive | 10q25.2 | Substitution | BBS18/BBIP1 | c.160A>T | p.Lys54Ter | Nonsense | Nawaz et al., 2023/2023 |
