Sugi Variant

Sugi Variant/ARNT2

ARNT2 — 259 ClinVar variants

All ClinVar germline ARNT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 22 Benign · 3 Benign/Likely benign · 94 Likely benign · 129 Uncertain significance

Full ARNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 1

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

Predictors lean, ClinVar uncertain 76

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

Predictors split 48

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

All ARNT2 variants

Pathogenic 6

Pathogenic/Likely pathogenic 1

  • p.Arg159Ter Multiple submitters Webb-Dattani syndrome

Likely pathogenic 3

  • c.147-1G>A Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • c.791+5G>A Single submitter Webb-Dattani syndrome
  • p.Gln444Ter Single submitter

Conflicting classifications of pathogenicity 1

Benign 22

Benign/Likely benign 3

  • c.1918+18G>A Multiple submitters Webb-Dattani syndrome
  • c.195-16C>T Multiple submitters Webb-Dattani syndrome
  • p.Ser669= Multiple submitters Webb-Dattani syndrome

Likely benign 94

Uncertain significance 129