| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +1 more) | Noonan syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Noonan syndrome | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1NN | |
| | | Single nucleotide variant (missense variant +2 more) | Dilated cardiomyopathy 1NN +1 more | |
Click to view in NCBI Gene