| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cerebral cavernous malformation | |
| | | Microsatellite (frameshift variant) | Hereditary cavernous hemangioma of brain +2 more | GConflicting classifications of pathogenicity |
| | | Deletion | Cerebral cavernous malformation | |
Click to view in NCBI Gene