| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (HIRA) | Autosomal Recessive | 22q11.21 | Substitution | HIRA | c.2041 C>A | p.Leu681Met | Missense | Rasool et al., 2023/2023 |
