| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia 1 +7 more | |
| | | Single nucleotide variant (missense variant) | See cases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +6 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +2 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +6 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +3 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +3 more | |
Click to view in NCBI Gene