| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Deletion (inframe_indel) | Vascular malformation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vascular malformation +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense +1 more) | Vascular malformation | |
| | | Single nucleotide variant (nonsense) | Segmental undergrowth associated with venous malformation without capillary component +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +1 more) | HRAS-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vascular malformation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | Parkes Weber syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Vascular malformation +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vascular malformation | |
Click to view in NCBI Gene