Sugi Variant

Sugi Variant/EHMT1

EHMT1 — 2399 ClinVar variants

All ClinVar germline EHMT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 834 flagged for review →

184 Pathogenic · 18 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 201 Conflicting · 230 Benign · 76 Benign/Likely benign · 974 Likely benign · 665 Uncertain significance

Full EHMT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 834

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 117

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

Predicted LoF vs a conflicting call 2

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 397

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 397

Predictors split 317

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 317

All EHMT1 variants

Pathogenic 184

Pathogenic/Likely pathogenic 18

Likely pathogenic 51

Conflicting classifications of pathogenicity 201

Benign 230

Benign/Likely benign 76

Likely benign 974

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

Uncertain significance 665

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