| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevolpmental disorder (TMEM141) | Neurodevolpmental disorder | Substitution | TMEM141 | c.270G>A | p.Trp90* | Nonsense | Sun et al, 2023/2023 |
