| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC110011216, PHOX2B (A258E) | Single nucleotide variant (missense variant) | Haddad syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Neuroblastoma, susceptibility to, 2 +5 more | |
Click to view in NCBI Gene