| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Iodotyrosyl coupling defect | |
| | | Single nucleotide variant (nonsense) | Iodotyrosyl coupling defect +2 more | |
| | | Deletion (frameshift variant) | Iodotyrosyl coupling defect | |
Click to view in NCBI Gene