| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (SLC7A10) | Cognitive impairment | Autosomal Recessive | 19q13.11 | Duplication | SLC7A10 | c.1372_1373dupA | p.Thr458Asnfs*71 | Frameshift | S Riazuddin et al., 2016/2016 |
