| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Olmsted syndrome, X-linked +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | IFAP syndrome 1, with or without BRESHECK syndrome +3 more | |
Click to view in NCBI Gene