Sugi Variant

Sugi Variant/KDM6A

KDM6A — 1326 ClinVar variants

All ClinVar germline KDM6A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 516 flagged for review →

115 Pathogenic · 5 Pathogenic/Likely pathogenic · 63 Likely pathogenic · 43 Conflicting · 99 Benign · 50 Benign/Likely benign · 372 Likely benign · 579 Uncertain significance

Full KDM6A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 516

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 5

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

Predictors agree, ClinVar conflicts 24

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 419

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 419

Predictors split 67

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

All KDM6A variants

Pathogenic 115

Pathogenic/Likely pathogenic 5

Likely pathogenic 63

Conflicting classifications of pathogenicity 43

Benign 99

Benign/Likely benign 50

Likely benign 372

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

Uncertain significance 579

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