| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Kohlschutter-Tonz syndrome-like | |
| | | Duplication (nonsense) | Developmental delay with dysmorphic facies and dental anomalies | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with dysmorphic facies and dental anomalies +1 more | |
Click to view in NCBI Gene