| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Thyroid dyshormonogenesis & ID (TG) | hypothyroidism & ID | Autosomal Recessive | 8q24.21-q24.23 | Nonsense | TG | 7006C>T | Arg2336* | Premature Termination | Mittal et al., 2016/2016 |
