| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex II deficiency, nuclear type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Gastrointestinal stromal tumor +9 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant +1 more) | Paragangliomas 5 | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene