| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | Tall stature +2 more | |
| | | Single nucleotide variant (missense variant) | Laron-type isolated somatotropin defect +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +11 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
Click to view in NCBI Gene