Renal tubular acidosis with progressive nerve deafness: genes and variants
Renal tubular acidosis with progressive nerve deafness is linked to 1 analyzed protein (ATP6V1B1). 7 DNA variants are known to cause it; 95 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 Renal tubular acidosis with progressive nerve deafness
ATP6V1B1: V-type proton ATPase subunit B, kidney isoform
It supplies an essential catalytic subunit of the vacuolar proton pump in acid-secreting epithelia, including renal intercalated cells and the inner ear. Biallelic loss-of-function variants cause distal renal tubular acidosis, often accompanied by sensorineural hearing loss.
7 disease-causing and 95 uncertain variants in ATP6V1B1 are linked to Renal tubular acidosis with progressive nerve deafness.
Known disease-causing variants in Renal tubular acidosis with progressive nerve deafness
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP6V1B1 L81P | 81 | Disease-causing (★★) | |
| ATP6V1B1 R157C | 157 | Disease-causing (★★) | |
| ATP6V1B1 G78R | 78 | Disease-causing (★★) | |
| ATP6V1B1 P346R | 346 | Disease-causing (★★) | |
| ATP6V1B1 D354N | 354 | Disease-causing (★★) | |
| ATP6V1B1 T275P | 275 | Disease-causing (★★) | |
| ATP6V1B1 K483N | 483 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Renal tubular acidosis with progressive nerve deafness?
In CATVariant, Renal tubular acidosis with progressive nerve deafness is linked to 1 analyzed protein: ATP6V1B1 (V-type proton ATPase subunit B, kidney isoform).
How many genetic variants are linked to Renal tubular acidosis with progressive nerve deafness?
106 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 95 are of uncertain significance or have conflicting reports.
Which uncertain variants in Renal tubular acidosis with progressive nerve deafness 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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