| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Myoclonus +4 more | |
| | | Deletion (frameshift variant) | Cyanosis +6 more | |
| | | Single nucleotide variant (missense variant) | Cyanosis +7 more | |
| | | Deletion (intron variant) | Myoclonus +2 more | |
Click to view in NCBI Gene