Sugi Variant

Sugi Variant/HAND2

HAND2 — 82 ClinVar variants

All ClinVar germline HAND2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 2 Benign · 4 Benign/Likely benign · 18 Likely benign · 51 Uncertain significance

Full HAND2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 37

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 22

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 14

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

All HAND2 variants

Pathogenic 1

  • p.Glu67Ter Single submitter dilated cardiomyopathy 1A

Likely pathogenic 1

Conflicting classifications of pathogenicity 5

Benign 2

Benign/Likely benign 4

Likely benign 18

Uncertain significance 51