| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +9 more | |
| | | Single nucleotide variant (splice acceptor variant) | Carney-Stratakis syndrome +4 more | |
| | | Deletion (frameshift variant +2 more) | Paragangliomas with sensorineural hearing loss +7 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +10 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hereditary pheochromocytoma-paraganglioma +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Cowden syndrome 3 +6 more | |
Click to view in NCBI Gene