| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cerebral cavernous malformation 3 | |
| | | Single nucleotide variant (intron variant) | Cerebral arteriovenous malformation +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cerebral cavernous malformation 3 | |
Click to view in NCBI Gene