| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Carney-Stratakis syndrome +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Paragangliomas with sensorineural hearing loss +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Paragangliomas 1 +6 more | |
| | | Single nucleotide variant (nonsense +2 more) | Paragangliomas with sensorineural hearing loss +6 more | |
| | | Single nucleotide variant (nonsense +2 more) | Paragangliomas 1 +5 more | |
| | | Single nucleotide variant (nonsense +2 more) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Duplication (frameshift variant +2 more) | Carney-Stratakis syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Paragangliomas with sensorineural hearing loss +7 more | |
| | | Single nucleotide variant (missense variant +3 more) | Paragangliomas 1 | |
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