Sugi Variant

Sugi Variant/DIS3L2

DIS3L2 — 2197 ClinVar variants

All ClinVar germline DIS3L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1114 flagged for review →

46 Pathogenic · 10 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 51 Conflicting · 45 Benign · 14 Benign/Likely benign · 759 Likely benign · 1237 Uncertain significance

Full DIS3L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1114

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 10

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

Predictors lean, ClinVar uncertain 536

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 536

Predictors split 567

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 567

All DIS3L2 variants

Pathogenic 46

Pathogenic/Likely pathogenic 10

Likely pathogenic 35

Conflicting classifications of pathogenicity 51

Benign 45

Benign/Likely benign 14

Likely benign 759

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

Uncertain significance 1237

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