| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (TRAPPC9) | Cognitive impairment | Autosomal Recessive | 8q24.3 | Substitution | TRAPPC9 | 1024+1G>T | - | - | 0/Kakar et al., 2012 |
| Intellectual Disability, Nonsyndromic (TRAPPC9) | Cognitive impairment | Autosomal Recessive | 8q24.3 | Substitution | TRAPPC9 | 1422C>T | Arg475* | Nonsense | 0/Mir et al., 2009 |
| Intellectual Disability, Nonsyndromic (TRAPPC9) | Intellectual Disability | Autosomal Recessive | 8q24.3 | Delation | TRAPPC9 | c.670delG | Val224Cysfs*13 | Frameshift | Asif et al., 2022/2022 |
