| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas 1 +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas 1 +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex II deficiency, nuclear type 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Pheochromocytoma +9 more | |
| | | Single nucleotide variant (splice acceptor variant) | Carney-Stratakis syndrome +4 more | |
| | | Deletion (frameshift variant +2 more) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +9 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Pheochromocytoma +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Pheochromocytoma +6 more | |
Click to view in NCBI Gene