Sugi Variant

Sugi Variant/ADAM9

ADAM9 — 564 ClinVar variants

All ClinVar germline ADAM9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

20 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 22 Conflicting · 29 Benign · 7 Benign/Likely benign · 219 Likely benign · 258 Uncertain significance

Full ADAM9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 220

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 2

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

Predictors lean, ClinVar uncertain 128

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

Predictors split 90

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

All ADAM9 variants

Pathogenic 20

Pathogenic/Likely pathogenic 1

  • p.Cys539fs Multiple submitters cone-rod dystrophy 9

Likely pathogenic 8

Conflicting classifications of pathogenicity 22

Benign 29

Benign/Likely benign 7

Likely benign 219

Uncertain significance 258