| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (3 prime UTR variant +1 more) | Primary familial hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | RASopathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 4 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene