Sugi Variant

Sugi Variant/LOXL3

LOXL3 — 522 ClinVar variants

All ClinVar germline LOXL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 5 Conflicting · 6 Benign · 9 Benign/Likely benign · 229 Likely benign · 268 Uncertain significance

Full LOXL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 238

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 3

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

Predictors lean, ClinVar uncertain 178

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 178

Predictors split 57

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

All LOXL3 variants

Pathogenic 2

Pathogenic/Likely pathogenic 1

  • p.Pro150fs Multiple submitters myopia 28, autosomal recessive

Likely pathogenic 2

  • c.313+1G>T Single submitter myopia 28, autosomal recessive
  • p.Thr483fs Single submitter LOXL3-related disorder

Conflicting classifications of pathogenicity 5

Benign 6

Benign/Likely benign 9

Likely benign 229

Uncertain significance 268