| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Cerebral arteriovenous malformation +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Cavernous hemangioma | |
| | | Single nucleotide variant (splice acceptor variant) | Cavernous hemangioma | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
Click to view in NCBI Gene