Sugi Variant

Sugi Variant/JAG2

JAG2 — 383 ClinVar variants

All ClinVar germline JAG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 251 flagged for review →

1 Pathogenic · 4 Likely pathogenic · 6 Conflicting · 22 Benign · 8 Benign/Likely benign · 87 Likely benign · 255 Uncertain significance

Full JAG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 251

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 5

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

Predictors lean, ClinVar uncertain 204

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 204

Predictors split 42

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

All JAG2 variants

Pathogenic 1

  • p.Phe407fs Single submitter muscular dystrophy, limb-girdle, autosomal recessive 27

Likely pathogenic 4

  • p.Gly839Arg Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 27
  • p.Arg165Ter Single submitter muscular dystrophy, limb-girdle, autosomal recessive 27
  • p.Gly281Cys Single submitter muscular dystrophy, limb-girdle, autosomal recessive 27
  • p.Tyr104Ter Single submitter muscular dystrophy, limb-girdle, autosomal recessive 27

Conflicting classifications of pathogenicity 6

Benign 22

Benign/Likely benign 8

Likely benign 87

Uncertain significance 255