Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, cardiac defects, and autonomic dysfunction | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, cardiac defects, and autonomic dysfunction | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, cardiac defects, and autonomic dysfunction | |
| | | Copy number loss | Hirschsprung disease, cardiac defects, and autonomic dysfunction | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, cardiac defects, and autonomic dysfunction | |
Click to view in NCBI Gene