| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Laron-type Dwarfism (GHR) | Laron-type Dwarfism | Autosomal Recessive | 5p13.1-p12 | Substitution | GHR | c.508G>C | p.(Asp170His) | Missense | Shabbir et al, 2023/2023 |
