Sugi Variant

Sugi Variant/MMP9

MMP9 — 457 ClinVar variants

All ClinVar germline MMP9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 228 flagged for review →

1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 12 Conflicting · 27 Benign · 5 Benign/Likely benign · 142 Likely benign · 268 Uncertain significance

Full MMP9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 228

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 158

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 158

Predictors split 69

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

All MMP9 variants

Pathogenic/Likely pathogenic 1

  • p.Cys329Ter Multiple submitters metaphyseal anadysplasia 2

Likely pathogenic 2

  • p.Arg51Cys Single submitter metaphyseal anadysplasia 2
  • p.Gly310fs Single submitter metaphyseal anadysplasia 2

Conflicting classifications of pathogenicity 12

Benign 27

Benign/Likely benign 5

  • p.Ala20Val Multiple submitters metaphyseal anadysplasia 2
  • p.Arg239His Multiple submitters metaphyseal anadysplasia 2
  • p.Arg24Cys Multiple submitters metaphyseal anadysplasia 2 ⚠
  • p.Cys674= Multiple submitters metaphyseal anadysplasia 2
  • p.Leu187Phe Multiple submitters metaphyseal anadysplasia 2 ⚠

Likely benign 142

Uncertain significance 268