Sugi Variant

Sugi Variant/KCNQ4

KCNQ4 — 536 ClinVar variants

All ClinVar germline KCNQ4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 251 flagged for review →

24 Pathogenic · 5 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 30 Conflicting · 49 Benign · 10 Benign/Likely benign · 128 Likely benign · 265 Uncertain significance

Full KCNQ4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 251

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 18

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

Predictors lean, ClinVar uncertain 178

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 178

Predictors split 53

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

All KCNQ4 variants

Pathogenic 24

  • p.Gly285Ser Expert panel nonsyndromic genetic hearing loss
  • p.Ser269del Expert panel nonsyndromic genetic hearing loss
  • p.Leu281Ser Multiple submitters KCNQ4-related disorder
  • p.Ala154fs Single submitter Rare genetic deafness
  • p.Ala21fs Single submitter
  • p.Glu260Ter Single submitter
  • p.Gly285Cys Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Gly287Arg Single submitter KCNQ4-related disorder
  • p.Gly296Ser Single submitter KCNQ4-related disorder
  • p.Phe426fs Single submitter
  • p.Trp275Arg Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Trp276Ser Single submitter Rare genetic deafness
  • p.Tyr160Ter Single submitter
  • p.Val544fs Single submitter Inborn genetic diseases
  • p.Ala349Profs No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.Gln71fs No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.His77fs No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.Leu274His No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.Pro291Arg No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.Pro291Ser No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.Trp242Ter No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.Tyr270His No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.Tyr88_Val90del No assertion criteria autosomal dominant nonsyndromic hearing loss 2A
  • p.Val230Glu No assertion criteria autosomal dominant nonsyndromic hearing loss 2A

Pathogenic/Likely pathogenic 5

  • p.Gln480Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • p.Gly321Ser Multiple submitters KCNQ4-related disorder
  • p.His234Leu Multiple submitters Bilateral sensorineural hearing impairment
  • p.Leu47Pro Multiple submitters autosomal dominant nonsyndromic hearing loss 2A ⚠
  • p.Pro291Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 2A

Likely pathogenic 25

  • p.Trp275Cys Expert panel nonsyndromic genetic hearing loss
  • c.406-2A>G Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • p.Gln122Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • p.Trp276Leu Multiple submitters KCNQ4-related disorder
  • c.1041+1G>A Single submitter
  • c.1614-2A>G Single submitter
  • c.835-1G>T Single submitter
  • p.Ala241Pro Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Ala76fs Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Arg554Ter Single submitter
  • p.Asp266Tyr Single submitter autosomal dominant nonsyndromic hearing loss 2A ⚠
  • p.Cys418fs Single submitter hearing loss disorder
  • p.Gly287Ser Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Gly296Cys Single submitter
  • p.Leu227fs Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Phe549Leu Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Ser265Cys Single submitter KCNQ4-related disorder ⚠
  • p.Trp275Ser Single submitter
  • p.Trp276Arg Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Trp294Ter Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Tyr270Ser Single submitter
  • p.Tyr369Ter Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Tyr556Ter Single submitter autosomal dominant nonsyndromic hearing loss 2A
  • p.Val558fs Single submitter Rare genetic deafness
  • p.Tyr286Ser No assertion criteria autosomal dominant nonsyndromic hearing loss 2A

Conflicting classifications of pathogenicity 30

Benign 49

Benign/Likely benign 10

  • c.1042-11dup Multiple submitters
  • c.1292+12G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • c.1513+11G>A Multiple submitters
  • p.Ala75Thr Multiple submitters
  • p.Arg411Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • p.Gly155= Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • p.Met442Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • p.Pro396= Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • p.Pro59Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 2A
  • p.Ser375= Multiple submitters

Likely benign 128

Uncertain significance 265