| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Peripheral neuropathy | |
| | | Duplication | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Duplication | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Deletion | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Deletion (frameshift variant) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Insertion | Neuropathy, hereditary sensory and autonomic, type 2A | |
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