Nephrogenic syndrome of inappropriate antidiuresis: genes and variants
Nephrogenic syndrome of inappropriate antidiuresis is linked to 1 analyzed protein (AVPR2). 7 DNA variants are known to cause it; 23 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 Nephrogenic syndrome of inappropriate antidiuresis
AVPR2: Vasopressin V2 receptor
7 disease-causing and 23 uncertain variants in AVPR2 are linked to Nephrogenic syndrome of inappropriate antidiuresis.
Where Nephrogenic syndrome of inappropriate antidiuresis variants cluster
- AVPR2 Cytoplasmic (positions 136–158): 3 of 7 disease-causing changes, 6.9× more than its size predicts.
Known disease-causing variants in Nephrogenic syndrome of inappropriate antidiuresis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AVPR2 R137C | 137 | Cytoplasmic | Disease-causing (★★) |
| AVPR2 R137H | 137 | Cytoplasmic | Disease-causing (★★) |
| AVPR2 Y128S | 128 | Transmembrane | Disease-causing (★★) |
| AVPR2 V88M | 88 | Transmembrane | Disease-causing (★★) |
| AVPR2 R104C | 104 | Extracellular | Disease-causing (★★) |
| AVPR2 L62P | 62 | Cytoplasmic | Disease-causing (★) |
| AVPR2 R137L | 137 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Diabetes insipidus, nephrogenic, X-linked is also caused by AVPR2 variants; they fall mostly in different places as the Nephrogenic syndrome of inappropriate antidiuresis variants (25 disease-causing).
- Nephrogenic diabetes insipidus is also caused by AVPR2 variants; they fall mostly in different places as the Nephrogenic syndrome of inappropriate antidiuresis variants (7 disease-causing).
Diseases related to Nephrogenic syndrome of inappropriate antidiuresis
- Nephrogenic diabetes insipidus, also linked to AVPR2
- Diabetes insipidus, nephrogenic, X-linked, also linked to AVPR2
- Renal tubulopathies, also linked to AVPR2
- Autosomal dominant polycystic kidney disease, also linked to AVPR2
Frequently asked questions
Which genes are linked to Nephrogenic syndrome of inappropriate antidiuresis?
In CATVariant, Nephrogenic syndrome of inappropriate antidiuresis is linked to 1 analyzed protein: AVPR2 (Vasopressin V2 receptor).
How many genetic variants are linked to Nephrogenic syndrome of inappropriate antidiuresis?
43 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 23 are of uncertain significance or have conflicting reports.
Which uncertain variants in Nephrogenic syndrome of inappropriate antidiuresis 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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