| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arteriovenous malformation +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral arteriovenous malformation +3 more | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriovenous malformation +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene