| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Neonatal severe primary hyperparathyroidism +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene