| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (OR2A12) | Cognitive impairment | Autosomal Recessive | Chr7:143792562 | Substitution | OR2A12 | c.362G>A | P.Arg121Gln | Missense | S Riazuddin et al., 2016/2016 |
