| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Cerebral cavernous malformation 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral cavernous malformation 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral cavernous malformation 2 +1 more | |
Click to view in NCBI Gene