| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Stuttering Familial Persistent (NAGPA) | non-syndromic stuttering | 16p13.3 | Missense | NAGPA | 1319G>C | Gly440Ala | Amino Acid Substitution | 0/Raza et al., 2016 |
