Sugi Variant

Sugi Variant/HCN2

HCN2 — 451 ClinVar variants

All ClinVar germline HCN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 258 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 12 Conflicting · 21 Benign · 6 Benign/Likely benign · 125 Likely benign · 277 Uncertain significance

Full HCN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 258

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 12

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

Predictors lean, ClinVar uncertain 226

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 226

Predictors split 20

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

All HCN2 variants

Pathogenic 7

  • p.Arg324His Single submitter HCN2 related developmental and epileptic encephalopathy
  • p.Arg659His Single submitter
  • p.Gly460Asp Single submitter HCN2 related developmental and epileptic encephalopathy
  • p.Gly587Asp Single submitter HCN2 related developmental and epileptic encephalopathy
  • p.Pro493Leu Single submitter HCN2 related developmental and epileptic encephalopathy
  • p.Pro646fs Single submitter HCN2 related developmental and epileptic encephalopathy
  • p.Ser126Leu No assertion criteria febrile seizures, familial, 2 ⚠

Pathogenic/Likely pathogenic 2

  • p.Glu478del Multiple submitters HCN2 related developmental and epileptic encephalopathy
  • p.Met374Leu Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 17

Likely pathogenic 1

  • p.Val246Met Single submitter epilepsy, idiopathic generalized, susceptibility to, 17

Conflicting classifications of pathogenicity 12

Benign 21

Benign/Likely benign 6

Likely benign 125

Uncertain significance 277