Sugi Variant

Sugi Variant/DNHD1

DNHD1 — 1037 ClinVar variants

All ClinVar germline DNHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 653 flagged for review →

20 Pathogenic · 5 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 17 Conflicting · 71 Benign · 10 Benign/Likely benign · 161 Likely benign · 727 Uncertain significance

Full DNHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 653

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 2

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 617

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 617

Predictors split 25

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

All DNHD1 variants

Pathogenic 20

Pathogenic/Likely pathogenic 5

Likely pathogenic 26

Conflicting classifications of pathogenicity 17

Benign 71

Benign/Likely benign 10

Likely benign 161

Uncertain significance 727

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