Sugi Variant

Sugi Variant/TCHH

TCHH — 491 ClinVar variants

All ClinVar germline TCHH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 428 flagged for review →

3 Likely pathogenic · 1 Conflicting · 4 Benign · 2 Benign/Likely benign · 57 Likely benign · 424 Uncertain significance

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

⚑ Evidence disagreements 428

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 214

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 214

Predictors split 213

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 213

All TCHH variants

Likely pathogenic 3

  • p.Arg385fs Single submitter uncombable hair syndrome 3
  • p.Gln234fs Single submitter uncombable hair syndrome 3
  • p.Gln331Ter Single submitter uncombable hair syndrome 3

Conflicting classifications of pathogenicity 1

Benign 4

Benign/Likely benign 2

Likely benign 57

Uncertain significance 424

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