Sugi Variant

Sugi Variant/TCTN2

TCTN2 — 794 ClinVar variants

All ClinVar germline TCTN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 294 flagged for review →

25 Pathogenic · 19 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 41 Conflicting · 57 Benign · 17 Benign/Likely benign · 264 Likely benign · 337 Uncertain significance

Full TCTN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 294

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 16

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

Predictors lean, ClinVar uncertain 238

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 238

Predictors split 40

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

All TCTN2 variants

Pathogenic 25

Pathogenic/Likely pathogenic 19

  • c.1506-2A>G Multiple submitters TCTN2-related disorder
  • c.191-2A>T Multiple submitters Meckel syndrome
  • c.267+1G>A Multiple submitters TCTN2-related disorder
  • p.Arg330Ter Multiple submitters TCTN2-related disorder
  • p.Arg446Ter Multiple submitters TCTN2-related disorder
  • p.Asp543fs Multiple submitters TCTN2-related disorder
  • p.Gln163Ter Multiple submitters Joubert syndrome
  • p.Gln306Ter Multiple submitters Meckel syndrome, type 8
  • p.Gln500fs Multiple submitters Joubert syndrome
  • p.His517fs Multiple submitters Meckel syndrome, type 8
  • p.Ile584Lys Multiple submitters TCTN2-related disorder
  • p.Leu175fs Multiple submitters Meckel syndrome
  • p.Leu235fs Multiple submitters Joubert syndrome 24
  • p.Leu630fs Multiple submitters TCTN2-related disorder
  • p.Thr322fs Multiple submitters Meckel syndrome
  • p.Thr603fs Multiple submitters TCTN2-related disorder
  • p.Trp596Ter Multiple submitters Joubert syndrome 24
  • p.Tyr439Ter Multiple submitters Joubert syndrome
  • p.Val267fs Multiple submitters Joubert syndrome and related disorders

Likely pathogenic 34

Conflicting classifications of pathogenicity 41

Benign 57

Benign/Likely benign 17

Likely benign 264

Uncertain significance 337

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