MEN2 phenotype: Unclassified: genes and variants
MEN2 phenotype: Unclassified is linked to 1 analyzed protein (RET). 5 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to MEN2 phenotype: Unclassified
RET: Proto-oncogene tyrosine-protein kinase receptor Ret
Its activation by GDNF-family ligands guides development of the enteric nervous system, kidney, and other tissues. Activating variants cause multiple endocrine neoplasia type 2 and can drive cancer, whereas loss-of-function variants are an important cause of Hirschsprung disease.
5 disease-causing and 0 uncertain variants in RET are linked to MEN2 phenotype: Unclassified.
Known disease-causing variants in MEN2 phenotype: Unclassified
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RET C634G | 634 | Extracellular | Disease-causing (★★) |
| RET C515Y | 515 | Extracellular | Disease-causing (★★) |
| RET E768D | 768 | Protein kinase | Disease-causing (★★) |
| RET C620S | 620 | Extracellular | Disease-causing (★★) |
| RET C216Y | 216 | Cadherin | Disease-causing (★★) |
Same protein, different disease
- Multiple endocrine neoplasia is also caused by RET variants; they fall mostly in different places as the MEN2 phenotype: Unclassified variants (53 disease-causing).
- Hirschsprung disease is also caused by RET variants; they fall mostly in different places as the MEN2 phenotype: Unclassified variants (16 disease-causing).
- Familial medullary thyroid carcinoma is also caused by RET variants; they fall mostly in different places as the MEN2 phenotype: Unclassified variants (13 disease-causing).
- Pheochromocytoma is also caused by RET variants; they fall mostly in different places as the MEN2 phenotype: Unclassified variants (5 disease-causing).
Diseases related to MEN2 phenotype: Unclassified
- Multiple endocrine neoplasia, also linked to RET
- Gastrointestinal stromal tumor, also linked to RET
- Pheochromocytoma, also linked to RET
- Ovarian cancer, also linked to RET
- Colorectal cancer, also linked to RET
- Non-small cell lung carcinoma, also linked to RET
- Hirschsprung disease, also linked to RET
- Familial medullary thyroid carcinoma, also linked to RET
- Hepatocellular carcinoma, also linked to RET
- Familial hyperparathyroidism or Hypocalciuric hypercalcaemia, also linked to RET
- Renal cell carcinoma, also linked to RET
Frequently asked questions
Which genes are linked to MEN2 phenotype: Unclassified?
In CATVariant, MEN2 phenotype: Unclassified is linked to 1 analyzed protein: RET (Proto-oncogene tyrosine-protein kinase receptor Ret).
How many genetic variants are linked to MEN2 phenotype: Unclassified?
5 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in MEN2 phenotype: Unclassified look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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