Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss: genes and variants
Explore variant evidence for Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss across 1 analyzed protein (ATP6V0A4). Linked ClinVar records include 4 pathogenic or likely pathogenic variants, 93 variants of uncertain significance and 3 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
ATP6V0A4: V-type proton ATPase 116 kDa subunit a 4
A membrane subunit of the V-type proton pump in kidney cells that helps acidify urine. Variants can cause distal renal tubular acidosis, sometimes with hearing loss.
4 ClinVar pathogenic / likely pathogenic and 96 uncertain variants in ATP6V0A4 have source records linked to Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): ATP6V1B1.
ClinVar pathogenic and likely pathogenic variants linked to Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP6V0A4 R743W | 743 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP6V0A4 D411Y | 411 | Vacuolar | Pathogenic / likely pathogenic (★★) |
| ATP6V0A4 R449C | 449 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| ATP6V0A4 R807Q | 807 | Transmembrane | Pathogenic / likely pathogenic (★★) |
Diseases related to Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- Autosomal recessive distal renal tubular acidosis, also linked to ATP6V0A4
Frequently asked questions
Which genes have records linked to Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss?
This view contains 1 analyzed proteins: ATP6V0A4. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 4 pathogenic or likely pathogenic variants, 93 variants of uncertain significance and 3 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 132 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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