| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease | |
| | | Single nucleotide variant (nonsense +1 more) | RET-related disorder | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ovarian cancer +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene