| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Congenital sensory neuropathy with selective loss of small myelinated fibers | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
Click to view in NCBI Gene