Sugi Variant

Sugi Variant/SLC26A1

SLC26A1 — 507 ClinVar variants

All ClinVar germline SLC26A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 336 flagged for review →

1 Pathogenic · 29 Conflicting · 21 Benign · 13 Benign/Likely benign · 99 Likely benign · 344 Uncertain significance

Full SLC26A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 336

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 233

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 233

Predictors split 89

The independent predictors disagree with each other — read with care.

All SLC26A1 variants

Pathogenic 1

  • p.Leu275Pro No assertion criteria nephrolithiasis, calcium oxalate

Conflicting classifications of pathogenicity 29

Benign 21

Benign/Likely benign 13

  • c.577-15G>A Multiple submitters nephrolithiasis, calcium oxalate
  • p.Ala571= Multiple submitters nephrolithiasis, calcium oxalate
  • p.Arg372His Multiple submitters nephrolithiasis, calcium oxalate
  • p.Arg61Cys Multiple submitters nephrolithiasis, calcium oxalate
  • p.Asp213= Multiple submitters nephrolithiasis, calcium oxalate
  • p.Gly218= Multiple submitters nephrolithiasis, calcium oxalate
  • p.Gly517Arg Multiple submitters
  • p.Ile178= Multiple submitters nephrolithiasis, calcium oxalate
  • p.Leu428= Multiple submitters
  • p.Leu93= Multiple submitters
  • p.Thr104= Multiple submitters
  • p.Thr562= Multiple submitters nephrolithiasis, calcium oxalate
  • p.Tyr559= Multiple submitters

Likely benign 99

Uncertain significance 344

Showing the top 300 by review status; the full set is in the sitemap.