Sugi Variant

Sugi Variant/FXR1

FXR1 — 66 ClinVar variants

All ClinVar germline FXR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 3 Benign · 2 Benign/Likely benign · 7 Likely benign · 50 Uncertain significance

Full FXR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 35

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 FXR1 variants

Pathogenic 1

  • c.1603+725dup No assertion criteria myopathy, congenital proximal, with minicore lesions

Likely pathogenic 3

Benign 3

Benign/Likely benign 2

  • c.52-7C>T Multiple submitters myopathy, congenital, with respiratory insufficiency and bone fractures
  • p.Thr251= Multiple submitters

Likely benign 7

Uncertain significance 50