Sugi Variant

Sugi Variant/SLC12A3

SLC12A3 — 1901 ClinVar variants

All ClinVar germline SLC12A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 450 flagged for review →

171 Pathogenic · 95 Pathogenic/Likely pathogenic · 165 Likely pathogenic · 113 Conflicting · 103 Benign · 20 Benign/Likely benign · 763 Likely benign · 471 Uncertain significance

Full SLC12A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 450

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 vs ClinVar 16

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 52

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

Predictors lean, ClinVar uncertain 284

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 284

Predictors split 98

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

All SLC12A3 variants

Pathogenic 171

Pathogenic/Likely pathogenic 95

Likely pathogenic 165

Conflicting classifications of pathogenicity 113

Benign 103

Benign/Likely benign 20

Likely benign 763

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

Uncertain significance 471

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