| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Spinal neurofibroma | |
| | | Single nucleotide variant (missense variant) | Cafe au lait spots, multiple | |
| | | Duplication (nonsense) | Neurofibroma | |
| | | Deletion (inframe_deletion) | Cafe au lait spots, multiple | |
Click to view in NCBI Gene