Distal renal tubular acidosis with anemia: genes and variants
Explore variant evidence for Distal renal tubular acidosis with anemia across 1 analyzed protein (SLC4A1). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 8 variants of uncertain significance and 6 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. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
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Genes linked to Distal renal tubular acidosis with anemia
SLC4A1: Band 3 anion transport protein
In red blood cells it exchanges chloride and bicarbonate to support carbon-dioxide transport, while in renal intercalated cells it is required for acid-base regulation. Pathogenic variants can cause hereditary spherocytosis or distal renal tubular acidosis depending on the affected function.
1 ClinVar pathogenic / likely pathogenic and 14 uncertain variants in SLC4A1 have source records linked to Distal renal tubular acidosis with anemia. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Distal renal tubular acidosis with anemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC4A1 R602P | 602 | Involved in anion transport | Pathogenic / likely pathogenic |
Same protein, different disease
- Hereditary spherocytosis also has ClinVar records linked to SLC4A1 variants; they fall mostly in different places as the Distal renal tubular acidosis with anemia variants (13 pathogenic / likely pathogenic).
- Autosomal dominant distal renal tubular acidosis also has ClinVar records linked to SLC4A1 variants; they fall mostly in different places as the Distal renal tubular acidosis with anemia variants (11 pathogenic / likely pathogenic).
- Cryohydrocytosis also has ClinVar records linked to SLC4A1 variants; they fall mostly in different places as the Distal renal tubular acidosis with anemia variants (9 pathogenic / likely pathogenic).
Diseases related to Distal renal tubular acidosis with anemia
- Hereditary spherocytosis, also linked to SLC4A1
- Renal tubulopathies, also linked to SLC4A1
- Autosomal dominant distal renal tubular acidosis, also linked to SLC4A1
- Cryohydrocytosis, also linked to SLC4A1
- Southeast Asian ovalocytosis, also linked to SLC4A1
- BLOOD GROUP, WALDNER, also linked to SLC4A1
- BLOOD GROUP--SWANN SYSTEM, also linked to SLC4A1
Frequently asked questions
Which genes have records linked to Distal renal tubular acidosis with anemia?
This view contains 1 analyzed proteins: SLC4A1. 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 1 pathogenic or likely pathogenic variants, 8 variants of uncertain significance and 6 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 29 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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