| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 4 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 4 +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Gastrointestinal stromal tumor +4 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Paragangliomas 4 +6 more | |
| | | Single nucleotide variant (splice donor variant) | Gastrointestinal stromal tumor +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary pheochromocytoma-paraganglioma +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene