Sugi Variant

Sugi Variant/SLC12A2

SLC12A2 — 596 ClinVar variants

All ClinVar germline SLC12A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 311 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 21 Conflicting · 32 Benign · 11 Benign/Likely benign · 161 Likely benign · 336 Uncertain significance

Full SLC12A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 311

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 2

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

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 218

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 218

Predictors split 77

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

All SLC12A2 variants

Pathogenic 16

Pathogenic/Likely pathogenic 1

  • p.Phe1104fs Multiple submitters Inborn genetic diseases

Likely pathogenic 18

Conflicting classifications of pathogenicity 21

Benign 32

Benign/Likely benign 11

  • c.2107+11A>G Multiple submitters hearing loss, autosomal dominant 78
  • c.3100+13A>T Multiple submitters hearing loss, autosomal dominant 78
  • c.876+17_876+18del Multiple submitters hearing loss, autosomal dominant 78
  • p.Ala49= Multiple submitters
  • p.Asp165= Multiple submitters hearing loss, autosomal dominant 78
  • p.Gly175Ala Multiple submitters hearing loss, autosomal dominant 78
  • p.Gly916= Multiple submitters Kilquist syndrome
  • p.Leu1156= Multiple submitters hearing loss, autosomal dominant 78
  • p.Leu319= Multiple submitters
  • p.Ser774= Multiple submitters Kilquist syndrome
  • p.Thr522= Multiple submitters

Likely benign 161

Uncertain significance 336

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