Sugi Variant

Sugi Variant/HTT

HTT — 791 ClinVar variants

All ClinVar germline HTT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

4 Pathogenic · 6 Likely pathogenic · 13 Conflicting · 56 Benign · 40 Benign/Likely benign · 395 Likely benign · 277 Uncertain significance

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

⚑ Evidence disagreements 166

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 8

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

Predictors lean, ClinVar uncertain 143

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 HTT variants

Pathogenic 4

Likely pathogenic 6

Conflicting classifications of pathogenicity 13

Benign 56

Benign/Likely benign 40

Likely benign 395

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

Uncertain significance 277