| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | CBL-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | LEOPARD syndrome 1 +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene