| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Paragangliomas with sensorineural hearing loss +6 more | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene