Sugi Variant

Sugi Variant/TTC21B

TTC21B — 1494 ClinVar variants

All ClinVar germline TTC21B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 583 flagged for review →

61 Pathogenic · 28 Pathogenic/Likely pathogenic · 63 Likely pathogenic · 99 Conflicting · 70 Benign · 19 Benign/Likely benign · 510 Likely benign · 644 Uncertain significance

Full TTC21B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 583

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 55

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

Predictors lean, ClinVar uncertain 418

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 418

Predictors split 108

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

All TTC21B variants

Pathogenic 61

Pathogenic/Likely pathogenic 28

  • c.1088-1G>A Multiple submitters Jeune syndrome
  • c.1088-1G>C Multiple submitters asphyxiating thoracic dystrophy 4
  • c.2758-2A>G Multiple submitters TTC21B-related disorder
  • c.431del Multiple submitters asphyxiating thoracic dystrophy 4
  • p.Arg1044Ter Multiple submitters asphyxiating thoracic dystrophy 4
  • p.Arg411Ter Multiple submitters TTC21B-related disorder
  • p.Arg58Ter Multiple submitters Jeune syndrome
  • p.Arg858Ter Multiple submitters TTC21B-related disorder
  • p.Asn1178fs Multiple submitters Jeune syndrome
  • p.Cys459Ter Multiple submitters asphyxiating thoracic dystrophy 4
  • p.Cys914fs Multiple submitters asphyxiating thoracic dystrophy 4
  • p.Gln516Ter Multiple submitters nephronophthisis
  • p.Gln940Ter Multiple submitters TTC21B-related disorder
  • p.Glu1244fs Multiple submitters TTC21B-related disorder
  • p.Glu683Ter Multiple submitters TTC21B-related disorder
  • p.Glu737Ter Multiple submitters Jeune syndrome
  • p.Leu551_Cys552insTer Multiple submitters Inborn genetic diseases
  • p.Lys166fs Multiple submitters nephronophthisis 12
  • p.Met828fs Multiple submitters asphyxiating thoracic dystrophy 4
  • p.Pro209Leu Multiple submitters Fetal anomalies with a likely genetic cause ⚠
  • p.Ser572Ter Multiple submitters Jeune syndrome
  • p.Thr47fs Multiple submitters Jeune syndrome
  • p.Thr494fs Multiple submitters Jeune syndrome
  • p.Tyr1234Ter Multiple submitters Jeune syndrome
  • p.Val972fs Multiple submitters nephronophthisis
  • p.Ala44Asp No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln667Ter No assertion criteria nephronophthisis 12
  • p.Leu1202Pro No assertion criteria Beemer-Langer syndrome

Likely pathogenic 63

Conflicting classifications of pathogenicity 99

Benign 70

Benign/Likely benign 19

Likely benign 510

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

Uncertain significance 644

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