| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital laryngomalacia +19 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory, type 2C +22 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +20 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene