| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | LOC130063193, MAP2K2 (A3S) | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene