Sugi Variant

Sugi Variant/SPEG

SPEG — 2252 ClinVar variants

All ClinVar germline SPEG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 759 flagged for review →

31 Pathogenic · 4 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 51 Conflicting · 64 Benign · 40 Benign/Likely benign · 884 Likely benign · 1162 Uncertain significance

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

⚑ Evidence disagreements 759

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 36

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

Predictors lean, ClinVar uncertain 676

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 676

Predictors split 47

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

All SPEG variants

Pathogenic 31

Pathogenic/Likely pathogenic 4

Likely pathogenic 16

Conflicting classifications of pathogenicity 51

Benign 64

Benign/Likely benign 40

Likely benign 884

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

Uncertain significance 1162

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