Sugi Variant

Sugi Variant/CHN1

CHN1 — 131 ClinVar variants

All ClinVar germline CHN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

10 Pathogenic · 3 Likely pathogenic · 5 Conflicting · 8 Benign · 1 Benign/Likely benign · 10 Likely benign · 94 Uncertain significance

Full CHN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

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 lean, ClinVar uncertain 40

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 28

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

All CHN1 variants

Pathogenic 10

  • p.Tyr221His Single submitter Duane retraction syndrome 2 ⚠
  • p.Ala223Val No assertion criteria Duane retraction syndrome 2 ⚠
  • p.Glu313Lys No assertion criteria Duane retraction syndrome 2
  • p.Gly228Ser No assertion criteria Duane retraction syndrome 2
  • p.Ile126Met No assertion criteria Duane retraction syndrome 2 ⚠
  • p.Ile369Ser No assertion criteria autosomal dominant Robinow syndrome 2 ⚠
  • p.Leu20Phe No assertion criteria Duane retraction syndrome 2
  • p.Pro141Leu No assertion criteria Duane retraction syndrome 2
  • p.Pro252Gln No assertion criteria Duane retraction syndrome 2
  • p.Tyr143His No assertion criteria Duane retraction syndrome 2

Likely pathogenic 3

Conflicting classifications of pathogenicity 5

  • c.550-5C>T Single submitter
  • p.Arg321Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn196= Single submitter Duane retraction syndrome 2
  • p.His145= Single submitter Duane retraction syndrome 2
  • p.Pro79= Single submitter Duane retraction syndrome 2

Benign 8

Benign/Likely benign 1

  • p.Leu23= Multiple submitters Duane retraction syndrome 2

Likely benign 10

Uncertain significance 94