| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bardet-Biedl Syndrome 19 | Rod-cone dystrophy, learning difficulties, renal abnormalities, male hypogonadism, post-axial polydactyly, and obesity | Autosomal Recessive | 22q12.3 | Substitution | BBS19/IFT27 | c.94C>T | p.Gln32Ter | Nonsense | Nawaz et al., 2023/2023 |
