| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant +2 more) | Isolated coronal synostosis +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | FGFR2-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Acrocephalosyndactyly type I | |
Click to view in NCBI Gene