| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hennekam lymphangiectasia-lymphedema syndrome 1 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene