| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Leigh syndrome +6 more | |
Click to view in NCBI Gene