Sugi Variant

Sugi Variant/TRIP11

TRIP11 — 1043 ClinVar variants

All ClinVar germline TRIP11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 435 flagged for review →

60 Pathogenic · 5 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 57 Conflicting · 100 Benign · 27 Benign/Likely benign · 290 Likely benign · 480 Uncertain significance

Full TRIP11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 435

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 24

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

Predictors lean, ClinVar uncertain 361

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 361

Predictors split 49

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

All TRIP11 variants

Pathogenic 60

Pathogenic/Likely pathogenic 5

  • p.Arg1028Ter Multiple submitters TRIP11-related disorder
  • p.Arg823fs Multiple submitters achondrogenesis type IA
  • p.Asn708fs Multiple submitters achondrogenesis type IA
  • p.Gln1758Ter Multiple submitters TRIP11-related disorder
  • p.Leu1321Ter Multiple submitters achondrogenesis type IA

Likely pathogenic 24

Conflicting classifications of pathogenicity 57

Benign 100

Benign/Likely benign 27

  • c.5056+11C>T Multiple submitters achondrogenesis type IA
  • c.5160+59A>G Multiple submitters
  • c.-331C>G Multiple submitters achondrogenesis type IA
  • c.-365C>G Multiple submitters achondrogenesis type IA
  • c.-61C>T Multiple submitters achondrogenesis type IA
  • c.*163C>T Multiple submitters achondrogenesis type IA
  • p.Ala1670= Multiple submitters connective tissue disorder
  • p.Ala1709Thr Multiple submitters achondrogenesis type IA
  • p.Arg1576His Multiple submitters achondrogenesis type IA
  • p.Arg1752Lys Multiple submitters achondrogenesis type IA
  • p.Arg252= Multiple submitters achondrogenesis type IA
  • p.Asp36Val Multiple submitters connective tissue disorder
  • p.Asp884Gly Multiple submitters achondrogenesis type IA
  • p.Cys1500= Multiple submitters achondrogenesis type IA
  • p.Gln1286= Multiple submitters achondrogenesis type IA
  • p.Glu506Ala Multiple submitters achondrogenesis type IA
  • p.Glu712Lys Multiple submitters achondrogenesis type IA
  • p.Gly1827Ser Multiple submitters odontochondrodysplasia 1
  • p.His1388= Multiple submitters connective tissue disorder
  • p.His1884Arg Multiple submitters achondrogenesis type IA
  • p.Ile1040Val Multiple submitters achondrogenesis type IA
  • p.Leu1049= Multiple submitters connective tissue disorder
  • p.Met1503Val Multiple submitters achondrogenesis type IA
  • p.Met39Leu Multiple submitters achondrogenesis type IA
  • p.Thr1380Ile Multiple submitters connective tissue disorder
  • p.Tyr739= Multiple submitters achondrogenesis type IA
  • p.Val795Leu Multiple submitters achondrogenesis type IA

Likely benign 290

Uncertain significance 480

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