Sugi Variant

Sugi Variant/SLC9A3

SLC9A3 — 789 ClinVar variants

All ClinVar germline SLC9A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 244 flagged for review →

17 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 13 Conflicting · 32 Benign · 18 Benign/Likely benign · 440 Likely benign · 261 Uncertain significance

Full SLC9A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 244

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 7

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

Predictors lean, ClinVar uncertain 190

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 190

Predictors split 47

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

All SLC9A3 variants

Pathogenic 17

Pathogenic/Likely pathogenic 2

  • c.932+1G>A Multiple submitters congenital secretory sodium diarrhea 8
  • p.Ala269Thr Multiple submitters congenital secretory sodium diarrhea 8

Likely pathogenic 6

Conflicting classifications of pathogenicity 13

Benign 32

Benign/Likely benign 18

Likely benign 440

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

Uncertain significance 261