Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis: genes and variants
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis is linked to 1 analyzed protein (CLCN5). 5 DNA variants are known to cause it; 21 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 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CLCN5: H(+)/Cl(-) exchange transporter 5
It supports endosomal acidification and receptor recycling in renal proximal-tubule cells, enabling efficient reabsorption of filtered proteins and solutes. Loss-of-function variants cause Dent disease type 1, with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, and kidney-stone risk.
5 disease-causing and 21 uncertain variants in CLCN5 are linked to Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis.
Known disease-causing variants in Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CLCN5 C291R | 291 | Transmembrane | Disease-causing (★★) |
| CLCN5 G532D | 532 | Transmembrane | Disease-causing (★) |
| CLCN5 G576R | 576 | Helical | Disease-causing (★) |
| CLCN5 G600V | 600 | Note=Loop between two helices | Disease-causing (★) |
| CLCN5 R350P | 350 | Transmembrane | Disease-causing |
Same protein, different disease
- Dent disease is also caused by CLCN5 variants; they fall mostly in different places as the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis variants (15 disease-causing).
- X-linked recessive nephrolithiasis with renal failure is also caused by CLCN5 variants; they fall mostly in different places as the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis variants (3 disease-causing).
Diseases related to Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
- Dent disease, also linked to CLCN5
- Hypophosphatemic rickets, also linked to CLCN5
- X-linked recessive nephrolithiasis with renal failure, also linked to CLCN5
Frequently asked questions
Which genes are linked to Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis?
In CATVariant, Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis is linked to 1 analyzed protein: CLCN5 (H(+)/Cl(-) exchange transporter 5).
How many genetic variants are linked to Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis?
40 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 21 are of uncertain significance or have conflicting reports.
Which uncertain variants in Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 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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