| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type I +3 more | |
| | | Deletion (frameshift variant) | FG syndrome 2 | |
| | | Single nucleotide variant (missense variant) | FG syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
Click to view in NCBI Gene