| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Vascular malformation +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (nonsense) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (nonsense) | Multiple cutaneous and mucosal venous malformations | |
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