| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Gastrointestinal stromal tumor +4 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 4 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary pheochromocytoma-paraganglioma +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more | |
| | | Single nucleotide variant (nonsense) | Gastrointestinal stromal tumor +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene