Sugi Variant

Sugi Variant/HOMER2

HOMER2 — 237 ClinVar variants

All ClinVar germline HOMER2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 15 Conflicting · 25 Benign · 12 Benign/Likely benign · 74 Likely benign · 106 Uncertain significance

Full HOMER2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 9

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 23

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

All HOMER2 variants

Pathogenic 3

  • p.Arg185Pro No assertion criteria autosomal dominant nonsyndromic hearing loss 68
  • p.Met270fs No assertion criteria autosomal dominant nonsyndromic hearing loss 68
  • p.Pro267fs No assertion criteria autosomal dominant nonsyndromic hearing loss 68

Pathogenic/Likely pathogenic 1

  • p.Asp342fs Multiple submitters autosomal dominant nonsyndromic hearing loss 68

Likely pathogenic 1

  • p.Ter344Trp Single submitter autosomal dominant nonsyndromic hearing loss 68

Conflicting classifications of pathogenicity 15

Benign 25

Benign/Likely benign 12

Likely benign 74

Uncertain significance 106