| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Paragangliomas 3 +3 more | |
| | | Single nucleotide variant (nonsense +2 more) | Paragangliomas 3 +1 more | |
Click to view in NCBI Gene