| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cerebral cavernous malformation | |
| | | Single nucleotide variant (synonymous variant) | Cerebral cavernous malformation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cerebral cavernous malformation +2 more | |
| | | Single nucleotide variant (nonsense) | Cerebral cavernous malformation +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Cerebral cavernous malformation | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene