| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (SMARCA1) | Cognitive impairment | X Linked | Xq25-q26.1 | Substitution | SMARCA1 | c.79G>A | p.Glu27Lys | Missense | S Riazuddin et al., 2016/2016 |
