| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Cerebral cavernous malformation 3 | |
| | | Single nucleotide variant (intron variant) | Cerebral cavernous malformation 3 | |
| | | Deletion (intron variant) | Cerebral cavernous malformation 3 | |
| | | Duplication (intron variant) | Cerebral cavernous malformation 3 | |
| | | Single nucleotide variant (intron variant) | Cerebral cavernous malformation 3 | |
| | | Single nucleotide variant (intron variant) | Cerebral cavernous malformation 3 | |
| | | Single nucleotide variant (intron variant) | Cerebral cavernous malformation 3 | |
| | | Single nucleotide variant (intron variant) | Cerebral cavernous malformation 3 | |
| | | Single nucleotide variant (intron variant) | Cerebral cavernous malformation 3 | |
Click to view in NCBI Gene