| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Schimke immunoosseous dysplasia type 1 | Schimke immunoosseous dysplasia | Autosomal recessive | 2q35 | Substitution | SMARCAL1 | c.1810C>T | p.Gln604Ter | Missense | Gul et al., 2023/2023 |
