| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Stuttering Familial Persistent 2 (STUT2,GNPTAB) | non-syndromic stuttering | 12q23.2 | Missense | GNPTAB | 961A>G | Ser321Gly | Amino Acid Substitution | 0/Raza et al., 2016 | |
| Stuttering Familial Persistent 2 (STUT2,GNPTAB) | non-syndromic stuttering | 12q23.2 | Missense | GNPTAB | 1875C>G | Phe625Leu | Amino Acid Substitution | 0/Raza et al., 2016 | |
| Stuttering Familial Persistent 2 (STUT2,GNPTAB) | non-syndromic stuttering | 12q23.2 | Missense | GNPTAB | 3598G>A | Glu1200Lys | Amino Acid Substitution | 0/Kang et al., 2010 |
