| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Carney-Stratakis syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | SDHD-related condition +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense +3 more) | Cowden syndrome 3 +4 more | |
Click to view in NCBI Gene