| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Autosomal dominant hypocalcemia 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 | |
| | | Single nucleotide variant (missense variant) | Neonatal severe primary hyperparathyroidism +2 more | |
Click to view in NCBI Gene