Sugi Variant

Sugi Variant/TULP3

TULP3 — 102 ClinVar variants

All ClinVar germline TULP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

7 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 3 Benign · 13 Likely benign · 74 Uncertain significance

Full TULP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 65

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 52

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

Predictors split 12

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

All TULP3 variants

Pathogenic 7

  • p.Leu182fs Multiple submitters hepatorenocardiac degenerative fibrosis
  • c.809+2T>C Single submitter hepatorenocardiac degenerative fibrosis
  • c.1023+1G>A No assertion criteria hepatorenocardiac degenerative fibrosis
  • c.(41+1_42-1 No assertion criteria hepatorenocardiac degenerative fibrosis
  • p.Arg24Ter No assertion criteria hepatorenocardiac degenerative fibrosis
  • p.Arg382Trp No assertion criteria hepatorenocardiac degenerative fibrosis
  • p.Arg408His No assertion criteria hepatorenocardiac degenerative fibrosis

Likely pathogenic 3

  • c.492+1G>A Single submitter hepatorenocardiac degenerative fibrosis
  • c.810-1G>C Single submitter hepatorenocardiac degenerative fibrosis
  • p.Tyr420fs Single submitter hepatorenocardiac degenerative fibrosis

Conflicting classifications of pathogenicity 2

Benign 3

Likely benign 13

Uncertain significance 74