| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sturge-Weber syndrome | |
| | | Single nucleotide variant (missense variant) | Sturge-Weber syndrome | |
| | | Single nucleotide variant (missense variant) | Capillary malformation +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sturge-Weber syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene