| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypophosphatemic rickets +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Tumoral calcinosis, hyperphosphatemic, familial, 2 | |
| | | Single nucleotide variant (missense variant) | Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +2 more | GConflicting classifications of pathogenicity |
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