| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | LEOPARD syndrome 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene