| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (intron variant) | Cardio-facio-cutaneous syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Cardio-facio-cutaneous syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | RASopathy | |
| | | Single nucleotide variant (intron variant) | Noonan syndrome 7 +9 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 7 +7 more | |
Click to view in NCBI Gene