Sugi Variant

Sugi Variant/ASXL2

ASXL2 — 648 ClinVar variants

All ClinVar germline ASXL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 368 flagged for review →

13 Pathogenic · 15 Likely pathogenic · 41 Conflicting · 46 Benign · 21 Benign/Likely benign · 172 Likely benign · 340 Uncertain significance

Full ASXL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 368

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 1

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

Predictors agree, ClinVar conflicts 31

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 238

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 238

Predictors split 97

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

All ASXL2 variants

Pathogenic 13

Likely pathogenic 15

Conflicting classifications of pathogenicity 41

Benign 46

Benign/Likely benign 21

Likely benign 172

Uncertain significance 340

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