| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Paragangliomas 4 +6 more | |
| | | Microsatellite (intron variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary pheochromocytoma-paraganglioma +9 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +9 more | |
Click to view in NCBI Gene