| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Van Maldergem syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Van Maldergem syndrome 2 | |
Click to view in NCBI Gene