Sugi Variant

Sugi Variant/TFRC

TFRC — 711 ClinVar variants

All ClinVar germline TFRC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 291 flagged for review →

1 Pathogenic · 13 Conflicting · 45 Benign · 22 Benign/Likely benign · 304 Likely benign · 326 Uncertain significance

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

⚑ Evidence disagreements 291

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 8

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

Predictors lean, ClinVar uncertain 232

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 232

Predictors split 51

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

All TFRC variants

Pathogenic 1

  • c.1198+1G>T Single submitter TFRC-related combined immunodeficiency

Conflicting classifications of pathogenicity 13

Benign 45

Benign/Likely benign 22

Likely benign 304

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

Uncertain significance 326

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