| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant | Carney-Stratakis syndrome +11 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | Paragangliomas 3 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary pheochromocytoma-paraganglioma +4 more | |
| | | Single nucleotide variant (nonsense +2 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor +5 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +3 more | |
Click to view in NCBI Gene