| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (S377F +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Noonan syndrome and Noonan-related syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (G380S +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Noonan syndrome and Noonan-related syndrome +1 more | |
Click to view in NCBI Gene