| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | Congenital central hypoventilation +1 more | |
| | | Duplication (inframe_insertion) | not provided +3 more | |
| | | Deletion (frameshift variant) | Congenital central hypoventilation syndrome, with or without Hirschsprung disease | |
Click to view in NCBI Gene