| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Duplication (inframe_insertion) | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease +2 more | GPathogenic/Likely pathogenic |
| | PHOX2B, PHOX2B-AS1 (D32fs) | Deletion (frameshift variant) | not provided | |
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