| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial medullary thyroid carcinoma +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MEN2 phenotype: Unclassified +13 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene