| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Lymphatic malformation 7 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation 2 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene