| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Thyroid dyshormonogenesis & ID (TPO) | hypothyroidism & ID | Autosomal Recessive | 2p25.3-p25.2 | Missense | TPO | 1235G>A | Arg412His | Amino Acid Substitution | Mittal et al., 2016/2016 |
| Thyroid dyshormonogenesis & ID (TPO) | hypothyroidism & ID | Autosomal Recessive | 2p25.3-p25.2 | Nonsense | TPO | 1786G>T | Glu596* | Premature Termination | Mittal et al., 2016/2016 |
