| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Carney complex, type 1 | |
| | | Microsatellite (splice acceptor variant) | Acrodysostosis 1 with or without hormone resistance +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | PRKAR1A-related condition +3 more | |
| | | Deletion | Pigmented nodular adrenocortical disease, primary, 1 | |
Click to view in NCBI Gene