Sugi Variant

Sugi Variant/DNAJC21

DNAJC21 — 449 ClinVar variants

All ClinVar germline DNAJC21 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 185 flagged for review →

32 Pathogenic · 2 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 15 Conflicting · 9 Benign · 9 Benign/Likely benign · 165 Likely benign · 204 Uncertain significance

Full DNAJC21 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 185

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 101

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

Predictors split 81

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

All DNAJC21 variants

Pathogenic 32

Pathogenic/Likely pathogenic 2

  • c.983+1G>A Multiple submitters bone marrow failure syndrome 3
  • p.Arg182Ter Multiple submitters bone marrow failure syndrome 3

Likely pathogenic 13

Conflicting classifications of pathogenicity 15

Benign 9

Benign/Likely benign 9

Likely benign 165

Uncertain significance 204