| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | Vascular malformation | |
| | | 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) | Cardiofaciocutaneous syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cardiofaciocutaneous syndrome 3 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene