| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene