| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial X-linked hypophosphatemic vitamin D refractory rickets | |
| | | Duplication (non-coding transcript variant +1 more) | Familial X-linked hypophosphatemic vitamin D refractory rickets | |
| | | Single nucleotide variant (nonsense +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene