Sugi Variant

Sugi Variant/MSX1

MSX1 — 117 ClinVar variants

All ClinVar germline MSX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →

18 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 3 Conflicting · 10 Benign · 1 Benign/Likely benign · 18 Likely benign · 60 Uncertain significance

Full MSX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 59

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 42

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

Predictors split 13

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

All MSX1 variants

Pathogenic 18

Pathogenic/Likely pathogenic 2

Likely pathogenic 5

Conflicting classifications of pathogenicity 3

Benign 10

Benign/Likely benign 1

  • p.Leu187= Multiple submitters tooth and nail syndrome

Likely benign 18

Uncertain significance 60