Sugi Variant

Sugi Variant/ALX1

ALX1 — 67 ClinVar variants

All ClinVar germline ALX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 9 Benign · 1 Benign/Likely benign · 15 Likely benign · 38 Uncertain significance

Full ALX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 39

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 1

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

Predictors lean, ClinVar uncertain 29

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

Predictors split 9

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

All ALX1 variants

Pathogenic 2

  • c.531+1G>A No assertion criteria frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
  • c.661-1G>C No assertion criteria frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome

Likely pathogenic 1

  • p.Gln51Ter Single submitter frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome

Conflicting classifications of pathogenicity 1

Benign 9

Benign/Likely benign 1

  • p.Arg64Leu Multiple submitters frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome

Likely benign 15

Uncertain significance 38