| | | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | ADIPOR2, B4GALNT3 +142 more | Copy number loss | See cases | |
| | ADIPOR2, B4GALNT3 +147 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADIPOR2, B4GALNT3 +101 more | Copy number loss | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | ADIPOR2, B4GALNT3 +170 more | Copy number loss | See cases | |
| | ADIPOR2, B4GALNT3 +114 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007161, LOC130007162 +80 more | Copy number loss | See cases | |
| | ADIPOR2, B4GALNT3 +123 more | Copy number loss | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | ADIPOR2, B4GALNT3 +146 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADIPOR2, B4GALNT3 +126 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Duplication (5 prime UTR variant) | Hereditary sensory and autonomic neuropathy type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary sensory and autonomic neuropathy type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudohypoaldosteronism type 2C | |
| | LOC130007151, LOC130007152 +1 more | Duplication | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Duplication | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Duplication | Pseudohypoaldosteronism type 2C +1 more | |
| | | Microsatellite (inframe_insertion) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +2 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudohypoaldosteronism type 2C +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +2 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +2 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |