| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor +2 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary pheochromocytoma-paraganglioma +6 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | Gastrointestinal stromal tumor +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
Click to view in NCBI Gene