| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hecht syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Carney complex - trismus - pseudocamptodactyly syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
Click to view in NCBI Gene