| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 17 | Rod-cone dystrophy, learning difficulties, renal abnormalities, male hypogonadism, post-axial polydactyly, and obesity | Autosomal Recessive | 3p21.31 | Substitution | BBS17/LZTFL1 | c.505A>T | p.Lys169Ter | Nonsense | Nawaz et al., 2023/2023 |
