| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hereditary pheochromocytoma-paraganglioma +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary pheochromocytoma-paraganglioma +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 4 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene