Sugi Variant

Sugi Variant/CHD4

CHD4 — 855 ClinVar variants

All ClinVar germline CHD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 369 flagged for review →

12 Pathogenic · 8 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 35 Conflicting · 38 Benign · 27 Benign/Likely benign · 246 Likely benign · 433 Uncertain significance

Full CHD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 369

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 25

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

Predictors lean, ClinVar uncertain 226

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 226

Predictors split 117

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

All CHD4 variants

Pathogenic 12

Pathogenic/Likely pathogenic 8

Likely pathogenic 56

Conflicting classifications of pathogenicity 35

Benign 38

Benign/Likely benign 27

Likely benign 246

Uncertain significance 433

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