| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Paragangliomas 4 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carney-Stratakis syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 4 +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +8 more | |
Click to view in NCBI Gene