Sugi Variant

Sugi Variant/ITGA2B

ITGA2B — 1011 ClinVar variants

All ClinVar germline ITGA2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 378 flagged for review →

148 Pathogenic · 103 Likely pathogenic · 17 Conflicting · 32 Benign · 10 Benign/Likely benign · 250 Likely benign · 451 Uncertain significance

Full ITGA2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 378

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 10

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 282

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 282

Predictors split 78

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

All ITGA2B variants

Pathogenic 148

Likely pathogenic 103

Conflicting classifications of pathogenicity 17

Benign 32

Benign/Likely benign 10

  • c.1545-10G>A Multiple submitters Glanzmann thrombasthenia
  • c.1752+4C>T Multiple submitters Glanzmann thrombasthenia
  • c.2094+10C>A Multiple submitters Glanzmann thrombasthenia
  • c.2094+13C>T Multiple submitters Glanzmann thrombasthenia
  • c.2349-11G>A Multiple submitters Glanzmann thrombasthenia
  • c.2943+18G>A Multiple submitters Glanzmann thrombasthenia
  • p.Gln778= Multiple submitters Glanzmann thrombasthenia
  • p.Pro605= Multiple submitters Glanzmann thrombasthenia
  • p.Val1021= Multiple submitters Glanzmann thrombasthenia 1
  • p.Val616Met Multiple submitters Glanzmann thrombasthenia

Likely benign 250

Uncertain significance 451

Showing the top 300 by review status; the full set is in the sitemap.