DNAJB5 — 56 ClinVar variants
All ClinVar germline DNAJB5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
3 Conflicting · 2 Likely benign · 51 Uncertain significance
Full DNAJB5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNAJB5 p.Thr406Pro Uncertain significance Multiple submitters
- DNAJB5 p.Ala168Val Uncertain significance Single submitter
- DNAJB5 p.Ala212Ser Uncertain significance Single submitter
- DNAJB5 p.Arg236His Uncertain significance Single submitter
- DNAJB5 p.Glu205Gly Uncertain significance Single submitter
- DNAJB5 p.Gly214Ser Uncertain significance Single submitter
- DNAJB5 p.Gly217Ser Uncertain significance Single submitter
- DNAJB5 p.Gly294Val Uncertain significance Single submitter
- DNAJB5 p.Lys385Arg Uncertain significance Single submitter
- DNAJB5 p.Ser154Pro Uncertain significance Single submitter
- DNAJB5 p.Thr150Ser Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- DNAJB5 p.Arg277His Uncertain significance Multiple submitters
- DNAJB5 p.Arg188His Conflicting Single submitter
- DNAJB5 p.Arg227Gln Uncertain significance Single submitter
- DNAJB5 p.Arg235Trp Uncertain significance Single submitter
- DNAJB5 p.Arg268Cys Uncertain significance Single submitter
- DNAJB5 p.Arg358Gln Uncertain significance Single submitter
- DNAJB5 p.Arg400His Uncertain significance Single submitter
- DNAJB5 p.Asp304Asn Uncertain significance Single submitter
- DNAJB5 p.Glu205Lys Uncertain significance Single submitter
- DNAJB5 p.Gly147Ser Conflicting Single submitter
- DNAJB5 p.Ile394Thr Uncertain significance Single submitter
- DNAJB5 p.Pro225Gln Uncertain significance Single submitter
- DNAJB5 p.Pro271Ser Uncertain significance Single submitter
- DNAJB5 p.Ser222Arg Uncertain significance Single submitter
- DNAJB5 p.Ser85Leu Uncertain significance Single submitter
- DNAJB5 p.Tyr139Cys Uncertain significance Single submitter
All DNAJB5 variants
Conflicting classifications of pathogenicity 3
- p.Arg188His Single submitter ⚠
- p.Gly147Ser Single submitter ⚠
- p.Pro15Ser Single submitter skeletal muscle disorder
Uncertain significance 51
- p.Arg277His Multiple submitters ⚠
- p.Glu141= Multiple submitters
- p.Thr406Pro Multiple submitters ⚠
- c.40G>A Single submitter
- c.50T>C Single submitter
- c.55G>C Single submitter
- c.58C>T Single submitter
- c.-133+6G>A Single submitter
- c.-144A>C Single submitter
- c.-147C>T Single submitter
- c.-153G>A Single submitter
- c.-159C>G Single submitter
- c.-160C>G Single submitter
- c.-175C>T Single submitter
- c.-189G>A Single submitter
- c.-196C>T Single submitter
- c.-202C>T Single submitter
- c.-211_-207dup Single submitter
- p.Ala168Val Single submitter ⚠
- p.Ala212Ser Single submitter ⚠
- p.Arg21Leu Single submitter
- p.Arg227Gln Single submitter ⚠
- p.Arg235Trp Single submitter ⚠
- p.Arg236His Single submitter ⚠
- p.Arg24Trp Single submitter
- p.Arg268Cys Single submitter ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg400His Single submitter ⚠
- p.Arg50Pro Single submitter
- p.Asp304Asn Single submitter ⚠
- p.Glu205Gly Single submitter ⚠
- p.Glu205Lys Single submitter ⚠
- p.Gly148_Gly149del Single submitter
- p.Gly18Ser Single submitter
- p.Gly214Ser Single submitter ⚠
- p.Gly217Ser Single submitter ⚠
- p.Gly294Val Single submitter ⚠
- p.Ile394Thr Single submitter ⚠
- p.Lys385Arg Single submitter ⚠
- p.Lys48Arg Single submitter
- p.Met39Ile Single submitter
- p.Pro16Arg Single submitter
- p.Pro16Thr Single submitter
- p.Pro225Gln Single submitter ⚠
- p.Pro271Ser Single submitter ⚠
- p.Ser154Pro Single submitter ⚠
- p.Ser222Arg Single submitter ⚠
- p.Ser85Leu Single submitter ⚠
- p.Thr150Ser Single submitter ⚠
- p.Tyr139Cys Single submitter ⚠
- p.Val70Gly Single submitter