| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (EML2) | Cognitive impairment | 19q13.32 | Substitution | EML2 | c.T1810A | p.C604S | Missense | Jamshed Khan, et al. 2019/2019 |
