Sugi Variant

Sugi Variant/KCNQ5

KCNQ5 — 901 ClinVar variants

All ClinVar germline KCNQ5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 368 flagged for review →

19 Pathogenic · 3 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 44 Conflicting · 77 Benign · 24 Benign/Likely benign · 326 Likely benign · 393 Uncertain significance

Full KCNQ5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 368

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 26

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 251

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 251

Predictors split 89

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

All KCNQ5 variants

Pathogenic 19

Pathogenic/Likely pathogenic 3

  • p.Arg178Ter Multiple submitters intellectual disability, autosomal dominant 46
  • p.Gly347Ser Multiple submitters intellectual disability, autosomal dominant 46
  • p.Pro369Thr Multiple submitters Inborn genetic diseases

Likely pathogenic 15

  • p.Ala351Ser Multiple submitters intellectual disability, autosomal dominant 46
  • p.Arg359Cys Multiple submitters
  • c.1248-3570T>C Single submitter
  • p.Ala182Val Single submitter intellectual disability, autosomal dominant 46
  • p.Arg470Ter Single submitter intellectual disability, autosomal dominant 46
  • p.Gly193Glu Single submitter KCNQ5-related disorder
  • p.Gly556Ala Single submitter intellectual disability, autosomal dominant 46
  • p.Lys92fs Single submitter intellectual disability, autosomal dominant 46
  • p.Phe127fs Single submitter KCNQ5-related disorder
  • p.Ser429Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser566fs Single submitter KCNQ5-related disorder
  • p.Tyr544Cys Single submitter intellectual disability, autosomal dominant 46
  • p.Tyr553Asn Single submitter KCNQ5-related disorder
  • p.Arg431Trp No assertion criteria intellectual disability, autosomal dominant 46
  • p.Asn292Ser No assertion criteria intellectual disability, autosomal dominant 46

Conflicting classifications of pathogenicity 44

Benign 77

Benign/Likely benign 24

Likely benign 326

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

Uncertain significance 393

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