| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Thyroid dyshormonogenesis 6 +2 more | |
| | | Deletion (frameshift variant) | Familial thyroid dyshormonogenesis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Thyroid dyshormonogenesis 6 +1 more | |
Click to view in NCBI Gene