| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hereditary pheochromocytoma-paraganglioma +8 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas 1 +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene