| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Tessadori-van Haaften neurodevelopmental syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Tessadori-van Haaften neurodevelopmental syndrome 1 | |
Click to view in NCBI Gene