Sugi Variant

Sugi Variant/ANXA11

ANXA11 — 444 ClinVar variants

All ClinVar germline ANXA11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 218 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Conflicting · 65 Benign · 8 Benign/Likely benign · 112 Likely benign · 251 Uncertain significance

Full ANXA11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 218

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 96

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

Predictors split 119

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

All ANXA11 variants

Pathogenic 3

  • c.744+1G>A Single submitter amyotrophic lateral sclerosis type 23
  • p.Asp40Gly Single submitter amyotrophic lateral sclerosis type 23 ⚠
  • p.Asp40Ile Single submitter oculopharyngeal muscular dystrophy 1

Pathogenic/Likely pathogenic 2

  • p.Asp40Tyr Multiple submitters amyotrophic lateral sclerosis type 23 ⚠
  • p.Gly38Arg Multiple submitters amyotrophic lateral sclerosis ⚠

Likely pathogenic 1

Conflicting classifications of pathogenicity 2

Benign 65

Benign/Likely benign 8

Likely benign 112

Uncertain significance 251