Sugi Variant

Sugi Variant/SH3PXD2B

SH3PXD2B — 670 ClinVar variants

All ClinVar germline SH3PXD2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →

9 Pathogenic · 9 Likely pathogenic · 48 Conflicting · 81 Benign · 19 Benign/Likely benign · 177 Likely benign · 327 Uncertain significance

Full SH3PXD2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 238

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 16

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

Predictors lean, ClinVar uncertain 193

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 193

Predictors split 29

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

All SH3PXD2B variants

Pathogenic 9

Likely pathogenic 9

Conflicting classifications of pathogenicity 48

Benign 81

Benign/Likely benign 19

Likely benign 177

Uncertain significance 327

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