DNAJB4 — 41 ClinVar variants
All ClinVar germline DNAJB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
4 Pathogenic · 1 Likely benign · 36 Uncertain significance
Full DNAJB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNAJB4 p.Arg146Ser Uncertain significance Single submitter
- DNAJB4 p.Arg153His Uncertain significance Single submitter
- DNAJB4 p.Arg178Gln Uncertain significance Single submitter
- DNAJB4 p.Arg245Ser Uncertain significance Single submitter
- DNAJB4 p.Gln40Glu Uncertain significance Single submitter
- DNAJB4 p.Glu18Asp Uncertain significance Single submitter
- DNAJB4 p.Glu53Lys Uncertain significance Single submitter
- DNAJB4 p.Gly129Ser Uncertain significance Single submitter
- DNAJB4 p.Gly264Arg Uncertain significance Single submitter
- DNAJB4 p.Gly288Arg Uncertain significance Single submitter
- DNAJB4 p.Gly2Arg Uncertain significance Single submitter
- DNAJB4 p.Ile171Arg Uncertain significance Single submitter
- DNAJB4 p.Ile235Val Uncertain significance Single submitter
- DNAJB4 p.Ile250Val Uncertain significance Single submitter
- DNAJB4 p.Ile294Thr Uncertain significance Single submitter
- DNAJB4 p.Pro299Ser Uncertain significance Single submitter
- DNAJB4 p.Ser182Phe Uncertain significance Single submitter
- DNAJB4 p.Ser323Pro Uncertain significance Single submitter
- DNAJB4 p.Thr215Ala Uncertain significance Single submitter
- DNAJB4 p.Thr253Ile Uncertain significance Single submitter
- DNAJB4 p.Val149Leu Uncertain significance Single submitter
-
DNAJB4 p.Pro33Leu
Uncertain significance
No assertion criteria
DNAJB4-related disorder
Predictors split 13
The independent predictors disagree with each other — read with care.
- DNAJB4 p.Ala76Pro Uncertain significance Single submitter
- DNAJB4 p.Arg292Ile Uncertain significance Single submitter
- DNAJB4 p.Asp239Tyr Uncertain significance Single submitter
- DNAJB4 p.Gly117Arg Uncertain significance Single submitter
- DNAJB4 p.Gly117Asp Uncertain significance Single submitter
- DNAJB4 p.Gly118Val Uncertain significance Single submitter
- DNAJB4 p.Ile231Val Uncertain significance Single submitter
- DNAJB4 p.Ile277Val Uncertain significance Single submitter
- DNAJB4 p.Lys238Arg Uncertain significance Single submitter
- DNAJB4 p.Pro158Leu Uncertain significance Single submitter
- DNAJB4 p.Pro270Ser Uncertain significance Single submitter
- DNAJB4 p.Pro301Ala Uncertain significance Single submitter
- DNAJB4 p.Thr271Ala Uncertain significance Single submitter
All DNAJB4 variants
Pathogenic 4
- p.Arg25Gln No assertion criteria congenital myopathy 21 with early respiratory failure
- p.Arg61Gly No assertion criteria congenital myopathy 21 with early respiratory failure
- p.Leu262Ser No assertion criteria congenital myopathy 21 with early respiratory failure
- p.Lys286Ter No assertion criteria congenital myopathy 21 with early respiratory failure
Likely benign 1
- p.Arg25Ter No assertion criteria DNAJB4-related disorder
Uncertain significance 36
- p.Ala76Pro Single submitter ⚠
- p.Arg146Ser Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg245Ser Single submitter ⚠
- p.Arg292Ile Single submitter ⚠
- p.Asp239Tyr Single submitter ⚠
- p.Gln40Glu Single submitter ⚠
- p.Glu18Asp Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Gly117Arg Single submitter ⚠
- p.Gly117Asp Single submitter ⚠
- p.Gly118Val Single submitter ⚠
- p.Gly129Ser Single submitter ⚠
- p.Gly264Arg Single submitter ⚠
- p.Gly288Arg Single submitter ⚠
- p.Gly2Arg Single submitter ⚠
- p.Ile171Arg Single submitter ⚠
- p.Ile231Val Single submitter ⚠
- p.Ile235Val Single submitter ⚠
- p.Ile250Val Single submitter ⚠
- p.Ile277Val Single submitter ⚠
- p.Ile294Thr Single submitter ⚠
- p.Lys238Arg Single submitter ⚠
- p.Pro158Leu Single submitter ⚠
- p.Pro270Ser Single submitter ⚠
- p.Pro299Ser Single submitter ⚠
- p.Pro301Ala Single submitter ⚠
- p.Ser182Phe Single submitter ⚠
- p.Ser323Pro Single submitter ⚠
- p.Thr215Ala Single submitter ⚠
- p.Thr253Ile Single submitter ⚠
- p.Thr271Ala Single submitter ⚠
- p.Val149Leu Single submitter ⚠
- p.Asp309Ter No assertion criteria DNAJB4-related disorder
- p.Pro33Leu No assertion criteria DNAJB4-related disorder ⚠