Sugi Variant

Sugi Variant/ITGA2

ITGA2 — 421 ClinVar variants

All ClinVar germline ITGA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

10 Conflicting · 106 Benign · 30 Benign/Likely benign · 71 Likely benign · 204 Uncertain significance

Full ITGA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 143

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 8

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

Predictors lean, ClinVar uncertain 111

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

Predictors split 24

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

All ITGA2 variants

Conflicting classifications of pathogenicity 10

Benign 106

Benign/Likely benign 30

  • c.1312+12T>C Multiple submitters platelet-type bleeding disorder 9
  • c.1807-6T>C Multiple submitters platelet-type bleeding disorder 9
  • c.2742-4A>G Multiple submitters platelet-type bleeding disorder 9
  • c.630+10A>G Multiple submitters platelet-type bleeding disorder 9
  • p.Ala263= Multiple submitters platelet-type bleeding disorder 9
  • p.Ala319Thr Multiple submitters platelet-type bleeding disorder 9
  • p.Ala331= Multiple submitters platelet-type bleeding disorder 9
  • p.Arg76Gln Multiple submitters platelet-type bleeding disorder 9 ⚠
  • p.Asn927Ser Multiple submitters platelet-type bleeding disorder 9
  • p.Asp283= Multiple submitters platelet-type bleeding disorder 9
  • p.Asp792= Multiple submitters platelet-type bleeding disorder 9
  • p.Glu534Lys Multiple submitters platelet-type bleeding disorder 9
  • p.Gly212= Multiple submitters platelet-type bleeding disorder 9
  • p.Ile1173Thr Multiple submitters platelet-type bleeding disorder 9
  • p.Ile173Val Multiple submitters platelet-type bleeding disorder 9
  • p.Ile332= Multiple submitters platelet-type bleeding disorder 9
  • p.Ile532Leu Multiple submitters platelet-type bleeding disorder 9 ⚠
  • p.Ile893Thr Multiple submitters platelet-type bleeding disorder 9
  • p.Leu856= Multiple submitters platelet-type bleeding disorder 9
  • p.Lys1127Gln Multiple submitters platelet-type bleeding disorder 9
  • p.Phe1084= Multiple submitters platelet-type bleeding disorder 9
  • p.Phe253= Multiple submitters platelet-type bleeding disorder 9
  • p.Pro546= Multiple submitters platelet-type bleeding disorder 9
  • p.Thr1007= Multiple submitters platelet-type bleeding disorder 9
  • p.Thr1052Ser Multiple submitters platelet-type bleeding disorder 9
  • p.Thr252= Multiple submitters platelet-type bleeding disorder 9
  • p.Thr275= Multiple submitters platelet-type bleeding disorder 9
  • p.Thr828= Multiple submitters platelet-type bleeding disorder 9
  • p.Tyr1108= Multiple submitters platelet-type bleeding disorder 9
  • p.Val211= Multiple submitters platelet-type bleeding disorder 9

Likely benign 71

Uncertain significance 204