| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial X-linked hypophosphatemic vitamin D refractory rickets | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (stop lost +1 more) | Familial X-linked hypophosphatemic vitamin D refractory rickets | |
Click to view in NCBI Gene