Sugi Variant

Sugi Variant/HES7

HES7 — 143 ClinVar variants

All ClinVar germline HES7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 7 Benign · 47 Likely benign · 79 Uncertain significance

Full HES7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 67

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 1

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

Predictors lean, ClinVar uncertain 52

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 HES7 variants

Pathogenic 3

  • p.Arg25Trp No assertion criteria spondylocostal dysostosis 4, autosomal recessive
  • p.Asp191Tyr No assertion criteria spondylocostal dysostosis 4, autosomal recessive ⚠
  • p.Ile58Val No assertion criteria spondylocostal dysostosis 4, autosomal recessive ⚠

Likely pathogenic 3

  • p.Arg137fs Single submitter spondylocostal dysostosis 4, autosomal recessive
  • p.Asn29Ser Single submitter spondylocostal dysostosis 4, autosomal recessive ⚠
  • p.Leu38Pro Single submitter spondylocostal dysostosis 4, autosomal recessive

Conflicting classifications of pathogenicity 4

Benign 7

Likely benign 47

Uncertain significance 79