| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806792, LOC126806793 +291 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | | Single nucleotide variant | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Deletion (5 prime UTR variant) | Hypocalcemia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant hypocalcemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Familial hypoparathyroidism +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial hypocalciuric hypercalcemia 1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant hypocalcemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant hypocalcemia 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypocalciuric hypercalcemia | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypocalciuric hypercalcemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant hypocalcemia 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Indel (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (synonymous variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +6 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypoparathyroidism +6 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypocalciuric hypercalcemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Deletion (frameshift variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +5 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +5 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | CASR-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (nonsense) | CASR-related calcium metabolism disorders +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant hypocalcemia 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypocalciuric hypercalcemia 1 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant hypocalcemia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (missense variant) | Bartter syndrome with hypocalcemia | |
| | | Duplication (frameshift variant) | Familial hypocalciuric hypercalcemia | |
| | | Single nucleotide variant (synonymous variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Neonatal severe primary hyperparathyroidism +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant hypocalcemia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +3 more | GConflicting classifications of pathogenicity |