Sugi Variant

Sugi Variant/ASXL1

ASXL1 — 2461 ClinVar variants

All ClinVar germline ASXL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1403 flagged for review →

95 Pathogenic · 6 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 125 Conflicting · 47 Benign · 62 Benign/Likely benign · 804 Likely benign · 1285 Uncertain significance

Full ASXL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1403

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 3

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

Predictors agree, ClinVar conflicts 88

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

Predicted LoF vs a conflicting call 4

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 965

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 965

Predictors split 343

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 343

All ASXL1 variants

Pathogenic 95

Pathogenic/Likely pathogenic 6

Likely pathogenic 37

Conflicting classifications of pathogenicity 125

Benign 47

Benign/Likely benign 62

Likely benign 804

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

Uncertain significance 1285

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