Sugi Variant

Sugi Variant/KCNH5

KCNH5 — 842 ClinVar variants

All ClinVar germline KCNH5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 396 flagged for review →

6 Pathogenic · 6 Likely pathogenic · 24 Conflicting · 48 Benign · 8 Benign/Likely benign · 318 Likely benign · 432 Uncertain significance

Full KCNH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 396

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 17

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

Predictors lean, ClinVar uncertain 255

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 255

Predictors split 124

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

All KCNH5 variants

Pathogenic 6

  • p.Arg327His Multiple submitters early-infantile DEE
  • p.Arg333His Multiple submitters early-infantile DEE
  • p.Tyr303Cys Single submitter early-infantile DEE
  • c.2020-4A>G No assertion criteria developmental and epileptic encephalopathy 112
  • p.Phe471Ser No assertion criteria developmental and epileptic encephalopathy 112
  • p.Thr468Pro No assertion criteria developmental and epileptic encephalopathy 112

Likely pathogenic 6

  • p.Arg327Cys Multiple submitters early-infantile DEE
  • p.Ala461Glu Single submitter developmental and epileptic encephalopathy 112
  • p.Arg327Ser Single submitter early-infantile DEE
  • p.Arg333Leu Single submitter Inborn genetic diseases
  • p.Arg560His Single submitter metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
  • p.Asp130His Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 24

Benign 48

Benign/Likely benign 8

  • c.198-9dup Multiple submitters early-infantile DEE
  • p.Glu117= Multiple submitters early-infantile DEE
  • p.Ile366Met Multiple submitters early-infantile DEE
  • p.Leu259= Multiple submitters early-infantile DEE
  • p.Leu298= Multiple submitters early-infantile DEE
  • p.Leu540= Multiple submitters early-infantile DEE
  • p.Pro884= Multiple submitters early-infantile DEE
  • p.Thr167= Multiple submitters early-infantile DEE

Likely benign 318

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

Uncertain significance 432

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