| 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) | Gastrointestinal stromal tumor +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +6 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +5 more | |
Click to view in NCBI Gene