| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant) | Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral cavernous malformation +1 more | |
Click to view in NCBI Gene