Sugi Variant

Sugi Variant/WNK4

WNK4 — 600 ClinVar variants

All ClinVar germline WNK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 332 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 44 Conflicting · 47 Benign · 32 Benign/Likely benign · 91 Likely benign · 379 Uncertain significance

Full WNK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 332

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 29

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

Predictors lean, ClinVar uncertain 244

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 244

Predictors split 57

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

All WNK4 variants

Pathogenic 3

  • p.Gln565Glu Single submitter pseudohypoaldosteronism type 2B ⚠
  • p.Asp564Ala No assertion criteria pseudohypoaldosteronism type 2B ⚠
  • p.Pro169Leu No assertion criteria pseudohypoaldosteronism type 2B

Likely pathogenic 4

Conflicting classifications of pathogenicity 44

Benign 47

Benign/Likely benign 32

  • c.1477-13A>G Multiple submitters pseudohypoaldosteronism type 2B
  • c.1864-11T>C Multiple submitters pseudohypoaldosteronism type 2B
  • c.3432-20T>C Multiple submitters pseudohypoaldosteronism type 2B
  • c.618+20C>T Multiple submitters
  • p.Ala1003= Multiple submitters
  • p.Ala31Glu Multiple submitters pseudohypoaldosteronism type 2B
  • p.Ala6Thr Multiple submitters pseudohypoaldosteronism type 2B
  • p.Arg1198His Multiple submitters
  • p.Arg1204Cys Multiple submitters pseudohypoaldosteronism type 2B
  • p.Arg275= Multiple submitters
  • p.Arg677= Multiple submitters
  • p.Arg677Trp Multiple submitters pseudohypoaldosteronism type 2B ⚠
  • p.Arg736Gln Multiple submitters pseudohypoaldosteronism type 2B
  • p.Arg738Gln Multiple submitters pseudohypoaldosteronism type 2B
  • p.Asn783Ser Multiple submitters Inborn genetic diseases
  • p.Cys618Phe Multiple submitters pseudohypoaldosteronism type 2B
  • p.Gln742Glu Multiple submitters
  • p.Gly315= Multiple submitters pseudohypoaldosteronism type 2B
  • p.Gly826Ser Multiple submitters pseudohypoaldosteronism type 2B
  • p.His573= Multiple submitters pseudohypoaldosteronism type 2B
  • p.Leu524= Multiple submitters pseudohypoaldosteronism type 2B
  • p.Leu778= Multiple submitters pseudohypoaldosteronism type 2B
  • p.Pro1011Arg Multiple submitters pseudohypoaldosteronism type 2B
  • p.Pro1173Gln Multiple submitters pseudohypoaldosteronism type 2B
  • p.Pro169= Multiple submitters pseudohypoaldosteronism type 2B
  • p.Pro551= Multiple submitters pseudohypoaldosteronism type 2B
  • p.Pro555Arg Multiple submitters pseudohypoaldosteronism type 2B
  • p.Pro556Thr Multiple submitters pseudohypoaldosteronism type 2B
  • p.Pro609= Multiple submitters pseudohypoaldosteronism type 2B
  • p.Ser806del Multiple submitters
  • p.Thr16Ile Multiple submitters pseudohypoaldosteronism type 2B
  • p.Thr790Asn Multiple submitters pseudohypoaldosteronism type 2B

Likely benign 91

Uncertain significance 379

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