| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (KMT2B) | Cognitive impairment | Autosomal Dominant | 19q13.12 | Substitution | KMT2B | c.2456C>T | p.Pro819Leu | Missense | Z Agha et al., 2014/2014 |
