| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Inguinal hernia +12 more | |
| | | Deletion (frameshift variant) | Myopia +4 more | |
| | | Copy number loss | Velopharyngeal insufficiency +8 more | |
Click to view in NCBI Gene