| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Neurofibromatosis, type 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene