Sugi Variant

Sugi Variant/ALX4

ALX4 — 324 ClinVar variants

All ClinVar germline ALX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 6 Conflicting · 78 Benign · 6 Benign/Likely benign · 46 Likely benign · 168 Uncertain significance

Full ALX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 106

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 63

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

Predictors split 40

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

All ALX4 variants

Pathogenic 14

  • p.Arg265Ter Multiple submitters Inborn genetic diseases
  • p.Gln111Ter Single submitter
  • p.Arg216Gly No assertion criteria parietal foramina 2
  • p.Arg218Gln No assertion criteria parietal foramina 2
  • p.Arg272Pro No assertion criteria parietal foramina 2
  • p.Asp169fs No assertion criteria parietal foramina 2
  • p.Asp326fs No assertion criteria parietal foramina 2
  • p.Cys129fs No assertion criteria parietal foramina 2
  • p.Gln140Ter No assertion criteria parietal foramina 2
  • p.Gln225Glu No assertion criteria frontonasal dysplasia with alopecia and genital anomaly
  • p.Gln246Ter No assertion criteria parietal foramina 2
  • p.Gln98fs No assertion criteria frontonasal dysplasia with alopecia and genital anomaly
  • p.Pro168fs No assertion criteria frontonasal dysplasia with alopecia and genital anomaly
  • p.Ser207Ter No assertion criteria parietal foramina 2

Pathogenic/Likely pathogenic 1

Likely pathogenic 5

  • p.Cys6fs Multiple submitters parietal foramina 2
  • p.Gly340fs Single submitter
  • p.Leu226fs Single submitter parietal foramina 2
  • p.Pro116fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
  • p.Pro133fs Single submitter

Conflicting classifications of pathogenicity 6

Benign 78

Benign/Likely benign 6

  • c.*156G>A Multiple submitters parietal foramina 2
  • c.*266T>G Multiple submitters parietal foramina 2
  • c.*290T>C Multiple submitters parietal foramina 2
  • p.Glu158Asp Multiple submitters Inborn genetic diseases
  • p.Gly369Glu Multiple submitters parietal foramina 2
  • p.Tyr21= Multiple submitters parietal foramina 2

Likely benign 46

Uncertain significance 168