| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Cerebral cavernous malformation | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cerebral cavernous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral cavernous malformation +2 more | |
Click to view in NCBI Gene