Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Blue rubber bleb nevus | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Blue rubber bleb nevus | |
Click to view in NCBI Gene