Sugi Variant

Sugi Variant/KCNH1

KCNH1 — 888 ClinVar variants

All ClinVar germline KCNH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 389 flagged for review →

13 Pathogenic · 4 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 44 Conflicting · 64 Benign · 27 Benign/Likely benign · 331 Likely benign · 397 Uncertain significance

Full KCNH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 389

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 1

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

Predictors agree, ClinVar conflicts 33

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

Predictors lean, ClinVar uncertain 219

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 219

Predictors split 136

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

All KCNH1 variants

Pathogenic 13

Pathogenic/Likely pathogenic 4

  • p.Arg357Gln Multiple submitters KCNH1-related disorder
  • p.Arg357Trp Multiple submitters Temple-Baraitser syndrome
  • p.Gly496Arg Multiple submitters KCNH1-related disorder
  • p.Leu379Pro Multiple submitters neurodevelopmental disorder

Likely pathogenic 8

Conflicting classifications of pathogenicity 44

Benign 64

Benign/Likely benign 27

Likely benign 331

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

Uncertain significance 397

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