| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 3 | |
| | | Duplication (frameshift variant) | Lymphatic malformation 3 +1 more | |
Click to view in NCBI Gene