Thyroid adenoma, hyperfunctioning, somatic: genes and variants
Thyroid adenoma, hyperfunctioning, somatic is linked to 1 analyzed protein (TSHR). 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 Thyroid adenoma, hyperfunctioning, somatic
TSHR: Thyrotropin receptor
TSH signaling through this pathway drives thyroid-hormone synthesis, iodine handling, and thyroid growth. Activating variants can cause autonomous hyperthyroidism, whereas loss-of-function variants can cause TSH resistance and congenital hypothyroidism.
5 disease-causing and 0 uncertain variants in TSHR are linked to Thyroid adenoma, hyperfunctioning, somatic.
Known disease-causing variants in Thyroid adenoma, hyperfunctioning, somatic
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TSHR D619G | 619 | Cytoplasmic | Disease-causing |
| TSHR L629F | 629 | Transmembrane | Disease-causing |
| TSHR F631L | 631 | Transmembrane | Disease-causing |
| TSHR S281I | 281 | Extracellular | Disease-causing |
| TSHR A623I | 623 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Hypothyroidism due to TSH receptor mutations is also caused by TSHR variants; they fall mostly in different places as the Thyroid adenoma, hyperfunctioning, somatic variants (24 disease-causing).
- Familial hyperthyroidism due to mutations in TSH receptor is also caused by TSHR variants; they fall mostly in different places as the Thyroid adenoma, hyperfunctioning, somatic variants (18 disease-causing).
- Familial gestational hyperthyroidism is also caused by TSHR variants; they fall mostly in different places as the Thyroid adenoma, hyperfunctioning, somatic variants (13 disease-causing).
- Ovarian cancer is also caused by TSHR variants; they fall mostly in different places as the Thyroid adenoma, hyperfunctioning, somatic variants (4 disease-causing).
Diseases related to Thyroid adenoma, hyperfunctioning, somatic
- Ovarian cancer, also linked to TSHR
- Hypothyroidism due to TSH receptor mutations, also linked to TSHR
- Familial hyperthyroidism due to mutations in TSH receptor, also linked to TSHR
- Familial gestational hyperthyroidism, also linked to TSHR
- Hyperthyroidism, also linked to TSHR
- Hypothyroidism, also linked to TSHR
Frequently asked questions
Which genes are linked to Thyroid adenoma, hyperfunctioning, somatic?
In CATVariant, Thyroid adenoma, hyperfunctioning, somatic is linked to 1 analyzed protein: TSHR (Thyrotropin receptor).
How many genetic variants are linked to Thyroid adenoma, hyperfunctioning, somatic?
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 Thyroid adenoma, hyperfunctioning, somatic 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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