| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant +1 more) | Cerebral arteriovenous malformation +13 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cardio-facio-cutaneous syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene