| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | LEOPARD syndrome 3 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RASopathy +1 more | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome | |
| | | Single nucleotide variant (missense variant) | RASopathy +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Lung carcinoma +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene