| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +3 more) | Paragangliomas 3 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene