| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Gillespie syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Movement disorder +3 more | |
| | | Copy number loss | Hypotonia +2 more | |
Click to view in NCBI Gene