Sugi Variant

Sugi Variant/DNAJB11

DNAJB11 — 187 ClinVar variants

All ClinVar germline DNAJB11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

15 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 4 Conflicting · 31 Benign · 56 Likely benign · 69 Uncertain significance

Full DNAJB11 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 3

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

Predictors lean, ClinVar uncertain 38

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

Predictors split 24

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

All DNAJB11 variants

Pathogenic 15

  • p.Arg206Ter Multiple submitters polycystic kidney disease 6 with or without polycystic liver disease
  • p.Arg242Ter Multiple submitters Inborn genetic diseases
  • p.Arg24Ter Multiple submitters autosomal dominant polycystic kidney disease
  • p.Arg34Ter Multiple submitters autosomal dominant polycystic kidney disease
  • c.70_85del Single submitter autosomal dominant polycystic kidney disease
  • p.Ala160fs Single submitter autosomal dominant polycystic kidney disease
  • p.Asn261fs Single submitter
  • p.Gln179fs Single submitter polycystic kidney disease 6 with or without polycystic liver disease
  • p.Gln51Ter Single submitter polycystic kidney disease 6 with or without polycystic liver disease
  • p.Leu142Ter Single submitter autosomal dominant polycystic kidney disease
  • p.Lys244Ter Single submitter autosomal dominant polycystic kidney disease
  • p.Lys284fs Single submitter autosomal dominant polycystic kidney disease
  • p.Thr178fs Single submitter autosomal dominant polycystic kidney disease
  • p.Tyr86Ter Single submitter polycystic kidney disease 6 with or without polycystic liver disease
  • p.Arg56fs No assertion criteria polycystic kidney disease 6 with or without polycystic liver disease

Pathogenic/Likely pathogenic 2

  • p.Glu144Ter Multiple submitters autosomal dominant polycystic kidney disease
  • p.Ile134fs Multiple submitters autosomal dominant polycystic kidney disease

Likely pathogenic 10

  • p.Leu77Pro Multiple submitters autosomal dominant polycystic kidney disease
  • p.Pro54Arg Multiple submitters autosomal dominant polycystic kidney disease
  • c.456+2T>A Single submitter
  • c.600-2A>C Single submitter Enlarged kidney
  • p.Arg254_Gly255insTer Single submitter polycystic kidney disease 6 with or without polycystic liver disease
  • p.Asn308_Phe309insTer Single submitter polycystic kidney disease 6 with or without polycystic liver disease
  • p.Ile212fs Single submitter polycystic kidney disease 6 with or without polycystic liver disease
  • p.Pro182fs Single submitter polycystic kidney disease 6 with or without polycystic liver disease
  • c.324-1G>T No assertion criteria polycystic kidney disease 6 with or without polycystic liver disease
  • p.Tyr89Ter No assertion criteria autosomal dominant polycystic kidney disease

Conflicting classifications of pathogenicity 4

Benign 31

Likely benign 56

Uncertain significance 69