Sugi Variant

Sugi Variant/DMXL2

DMXL2 — 1887 ClinVar variants

All ClinVar germline DMXL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 615 flagged for review →

47 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 31 Conflicting · 100 Benign · 21 Benign/Likely benign · 836 Likely benign · 838 Uncertain significance

Full DMXL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 615

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 21

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

Predictors lean, ClinVar uncertain 552

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 552

Predictors split 41

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

All DMXL2 variants

Pathogenic 47

Pathogenic/Likely pathogenic 2

Likely pathogenic 12

Conflicting classifications of pathogenicity 31

Benign 100

Benign/Likely benign 21

Likely benign 836

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

Uncertain significance 838

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