Sugi Variant

Sugi Variant/BHLHA9

BHLHA9 — 97 ClinVar variants

All ClinVar germline BHLHA9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 2 Benign · 2 Benign/Likely benign · 26 Likely benign · 59 Uncertain significance

Full BHLHA9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 56

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 4

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

Predictors lean, ClinVar uncertain 47

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

Predictors split 5

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

All BHLHA9 variants

Pathogenic 2

  • p.Arg75Leu No assertion criteria mesoaxial synostotic syndactyly with phalangeal reduction
  • p.Asn71Asp No assertion criteria mesoaxial synostotic syndactyly with phalangeal reduction

Likely pathogenic 2

  • p.Arg73Leu Single submitter mesoaxial synostotic syndactyly with phalangeal reduction
  • p.Arg73Pro Single submitter mesoaxial synostotic syndactyly with phalangeal reduction

Conflicting classifications of pathogenicity 4

Benign 2

  • c.-68A>G Multiple submitters
  • p.Leu79= Multiple submitters mesoaxial synostotic syndactyly with phalangeal reduction

Benign/Likely benign 2

Likely benign 26

Uncertain significance 59