DNAJB13 — 211 ClinVar variants
All ClinVar germline DNAJB13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
8 Pathogenic · 4 Likely pathogenic · 7 Conflicting · 52 Benign · 1 Benign/Likely benign · 66 Likely benign · 73 Uncertain significance
Full DNAJB13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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DNAJB13 p.Asp253Asn
Conflicting
Single submitter
primary ciliary dyskinesia 34
Predictors lean, ClinVar uncertain 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNAJB13 p.Asn14Asp Uncertain significance Multiple submitters
- DNAJB13 p.Ala23Val Uncertain significance Single submitter
- DNAJB13 p.Arg193Pro Uncertain significance Single submitter
- DNAJB13 p.Arg25Gly Uncertain significance Single submitter
- DNAJB13 p.Arg25Ser Uncertain significance Single submitter
- DNAJB13 p.Arg301His Uncertain significance Single submitter
- DNAJB13 p.Asn107Ser Uncertain significance Single submitter
- DNAJB13 p.Asp53His Uncertain significance Single submitter
- DNAJB13 p.Gln139Arg Uncertain significance Single submitter
- DNAJB13 p.Glu112Gly Uncertain significance Single submitter
- DNAJB13 p.Glu79Asp Uncertain significance Single submitter
- DNAJB13 p.Gly187Ser Uncertain significance Single submitter
- DNAJB13 p.Gly203Ser Uncertain significance Single submitter
- DNAJB13 p.Gly239Ser Uncertain significance Single submitter
- DNAJB13 p.Gly62Ser Uncertain significance Single submitter
- DNAJB13 p.Gly74Ala Uncertain significance Single submitter
- DNAJB13 p.His32Tyr Uncertain significance Single submitter
- DNAJB13 p.Ile211Ser Uncertain significance Single submitter
- DNAJB13 p.Ile63Asn Uncertain significance Single submitter
- DNAJB13 p.Met278Thr Uncertain significance Single submitter
- DNAJB13 p.Met309Thr Uncertain significance Single submitter
- DNAJB13 p.Phe103Leu Uncertain significance Single submitter
- DNAJB13 p.Phe270Ile Uncertain significance Single submitter
- DNAJB13 p.Pro279Leu Uncertain significance Single submitter
- DNAJB13 p.Pro281Ser Uncertain significance Single submitter
- DNAJB13 p.Pro284Ser Uncertain significance Single submitter
- DNAJB13 p.Pro299Leu Uncertain significance Single submitter
- DNAJB13 p.Ser162Phe Uncertain significance Single submitter
- DNAJB13 p.Thr300Ser Uncertain significance Single submitter
- DNAJB13 p.Thr87Ala Uncertain significance Single submitter
- DNAJB13 p.Val121Leu Uncertain significance Single submitter
- DNAJB13 p.Val133Ile Uncertain significance Single submitter
- DNAJB13 p.Val215Ile Uncertain significance Single submitter
- DNAJB13 p.Val99Glu Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- DNAJB13 p.Arg131Gln Uncertain significance Multiple submitters
-
DNAJB13 p.Arg222Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 34
- DNAJB13 p.Arg301Cys Uncertain significance Multiple submitters
- DNAJB13 p.Asp169Gly Uncertain significance Multiple submitters
- DNAJB13 p.Asp65Asn Uncertain significance Multiple submitters
- DNAJB13 p.Gly191Asp Uncertain significance Multiple submitters
- DNAJB13 p.Ile296Val Uncertain significance Multiple submitters
- DNAJB13 p.Ile48Thr Uncertain significance Multiple submitters
-
DNAJB13 p.Ser36Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAJB13 p.Val91Gly
Likely benign
Multiple submitters
primary ciliary dyskinesia 34
- DNAJB13 p.Val99Ala Uncertain significance Multiple submitters
- DNAJB13 p.Ala28Ser Uncertain significance Single submitter
- DNAJB13 p.Arg142Gln Uncertain significance Single submitter
- DNAJB13 p.Arg163Lys Uncertain significance Single submitter
- DNAJB13 p.Arg193Cys Uncertain significance Single submitter
- DNAJB13 p.Arg193His Uncertain significance Single submitter
- DNAJB13 p.Arg193Ser Uncertain significance Single submitter
- DNAJB13 p.Arg222His Uncertain significance Single submitter
-
DNAJB13 p.Arg224His
Conflicting
Single submitter
Cough
- DNAJB13 p.Asn229His Uncertain significance Single submitter
- DNAJB13 p.Asp295Asn Uncertain significance Single submitter
- DNAJB13 p.Glu141Gln Uncertain significance Single submitter
- DNAJB13 p.Glu141Lys Uncertain significance Single submitter
- DNAJB13 p.Glu38Lys Conflicting Single submitter
- DNAJB13 p.Gly118Arg Uncertain significance Single submitter
- DNAJB13 p.Gly126Ala Uncertain significance Single submitter
- DNAJB13 p.Gly275Ala Uncertain significance Single submitter
- DNAJB13 p.Gly62Asp Uncertain significance Single submitter
- DNAJB13 p.Ile236Phe Uncertain significance Single submitter
- DNAJB13 p.Lys272Glu Uncertain significance Single submitter
- DNAJB13 p.Lys307Gln Conflicting Single submitter
- DNAJB13 p.Lys60Asn Uncertain significance Single submitter
- DNAJB13 p.Phe113Ile Uncertain significance Single submitter
-
DNAJB13 p.Phe125Cys
Conflicting
Single submitter
primary ciliary dyskinesia 34
- DNAJB13 p.Phe232Ser Uncertain significance Single submitter
- DNAJB13 p.Pro281Leu Uncertain significance Single submitter
- DNAJB13 p.Pro304His Uncertain significance Single submitter
- DNAJB13 p.Ser147Thr Conflicting Single submitter
- DNAJB13 p.Thr303Ile Uncertain significance Single submitter
- DNAJB13 p.Val91Ile Uncertain significance Single submitter
All DNAJB13 variants
Pathogenic 8
- p.Arg131Ter Single submitter
- p.Gln136Ter Single submitter
- p.Glu141Ter Single submitter
- p.His31fs Single submitter primary ciliary dyskinesia 34
- p.Pro33fs Single submitter
- p.Trp188fs Single submitter
- c.68+1G>C No assertion criteria primary ciliary dyskinesia 34
- p.Met278Arg No assertion criteria primary ciliary dyskinesia 34
Likely pathogenic 4
- c.172+1G>A Single submitter
- c.335-2A>G Single submitter
- c.493-1G>A Single submitter primary ciliary dyskinesia 34
- c.720+2T>C Single submitter
Conflicting classifications of pathogenicity 7
- c.493-3T>C Single submitter
- p.Arg224His Single submitter Cough ⚠
- p.Asp253Asn Single submitter primary ciliary dyskinesia 34 ⚠
- p.Glu38Lys Single submitter ⚠
- p.Lys307Gln Single submitter ⚠
- p.Phe125Cys Single submitter primary ciliary dyskinesia 34 ⚠
- p.Ser147Thr Single submitter ⚠
Benign 52
- c.334+277T>G Multiple submitters
- c.335-64C>T Multiple submitters
- c.335-66T>C Multiple submitters
- c.335-68T>C Multiple submitters
- c.335-70T>C Multiple submitters
- c.335-72T>C Multiple submitters
- c.335-74T>C Multiple submitters
- c.492+71C>G Multiple submitters
- c.607-158A>G Multiple submitters
- c.607-171G>C Multiple submitters
- c.68+181A>G Multiple submitters
- c.68+91C>T Multiple submitters
- c.69-28A>C Multiple submitters
- c.69-52C>A Multiple submitters
- c.797+259T>C Multiple submitters
- c.797+260G>A Multiple submitters
- p.His93= Multiple submitters primary ciliary dyskinesia 34
- p.Met309Ile Multiple submitters
- p.Phe294= Multiple submitters
- c.173-106G>C Single submitter
- c.334+19C>T Single submitter
- c.334+95_334+99del Single submitter
- c.334+96TTATT[2] Single submitter
- c.335-112TG[18] Single submitter
- c.335-112TG[19] Single submitter
- c.335-112TG[20] Single submitter
- c.335-112TG[21] Single submitter
- c.335-112TG[22] Single submitter
- c.335-112TG[23] Single submitter
- c.335-56_335-55insCCCCGCGCGC Single submitter
- c.335-58_335-57insCCCCGCGC Single submitter
- c.335-60_335-59insCCCCGC Single submitter
- c.335-60_335-59insCCGC Single submitter
- c.335-62_335-61insCC Single submitter
- c.335-65GC[5] Single submitter
- c.492+211dup Single submitter
- c.493-8T>C Single submitter
- c.606+10del Single submitter
- c.606+249G>A Single submitter
- c.606+292G>A Single submitter
- c.69-317G>C Single submitter
- c.720+129T>C Single submitter
- c.720+152G>A Single submitter
- c.720+334T>A Single submitter
- c.721-163T>G Single submitter
- c.721-228G>A Single submitter
- c.721-240C>T Single submitter
- c.721-285C>T Single submitter
- c.798-212_798-209del Single submitter
- c.798-230C>T Single submitter
- c.798-256C>T Single submitter
- p.Leu29= Single submitter
Benign/Likely benign 1
- p.Ser7Thr Multiple submitters
Likely benign 66
- c.492+74G>C Multiple submitters
- p.Tyr64= Multiple submitters
- p.Val91Gly Multiple submitters primary ciliary dyskinesia 34 ⚠
- c.172+13G>A Single submitter
- c.172+18T>C Single submitter
- c.172+287G>A Single submitter
- c.173-13T>C Single submitter
- c.173-165del Single submitter
- c.173-4A>G Single submitter
- c.334+10C>T Single submitter
- c.334+13C>T Single submitter
- c.334+17C>T Single submitter
- c.334+7G>A Single submitter
- c.335-15C>G Single submitter
- c.335-54_335-53insCCCCGCGCGCGC Single submitter
- c.335-60C>T Single submitter
- c.335-65GC[7] Single submitter
- c.335-68_335-63del Single submitter
- c.335-69_335-68insCGCG Single submitter
- c.335-76T>C Single submitter
- c.492+9T>G Single submitter
- c.606+16G>A Single submitter
- c.607-11C>T Single submitter
- c.607-12dup Single submitter
- c.607-13G>A Single submitter
- c.607-4C>G Single submitter
- c.68+8G>C Single submitter
- c.721-10C>T Single submitter
- c.721-12G>A Single submitter
- c.721-14C>T Single submitter
- c.721-205A>T Single submitter
- c.-16T>G Single submitter
- p.Ala209= Single submitter
- p.Asn167= Single submitter
- p.Cys155= Single submitter
- p.Glu79= Single submitter
- p.Gly127= Single submitter
- p.Gly132= Single submitter
- p.Gly203= Single submitter
- p.Gly277= Single submitter
- p.His101= Single submitter
- p.Ile206= Single submitter
- p.Ile214= Single submitter
- p.Ile265= Single submitter
- p.Leu148= Single submitter
- p.Leu230= Single submitter
- p.Leu315= Single submitter
- p.Leu9= Single submitter
- p.Lys287= Single submitter
- p.Lys30= Single submitter
- p.Phe232= Single submitter
- p.Pro186= Single submitter
- p.Pro204= Single submitter
- p.Pro235= Single submitter
- p.Pro260= Single submitter
- p.Pro274= Single submitter
- p.Pro281= Single submitter
- p.Pro33= Single submitter
- p.Pro39= Single submitter
- p.Ser15= Single submitter
- p.Ser7= Single submitter
- p.Thr300= Single submitter
- p.Tyr52= Single submitter
- p.Val121= Single submitter
- p.Val133= Single submitter
- c.-9T>C No assertion criteria DNAJB13-related disorder
Uncertain significance 73
- p.Arg131Gln Multiple submitters ⚠
- p.Arg222Cys Multiple submitters primary ciliary dyskinesia 34 ⚠
- p.Arg301Cys Multiple submitters ⚠
- p.Asn14Asp Multiple submitters ⚠
- p.Asp169Gly Multiple submitters ⚠
- p.Asp65Asn Multiple submitters ⚠
- p.Gly191Asp Multiple submitters ⚠
- p.Ile296Val Multiple submitters ⚠
- p.Ile48Thr Multiple submitters ⚠
- p.Ser36Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Val99Ala Multiple submitters ⚠
- c.606+6G>C Single submitter
- c.607-5C>A Single submitter
- c.798-3C>T Single submitter
- p.Ala23Val Single submitter ⚠
- p.Ala28Ser Single submitter ⚠
- p.Arg142Gln Single submitter ⚠
- p.Arg163Lys Single submitter ⚠
- p.Arg193Cys Single submitter ⚠
- p.Arg193His Single submitter ⚠
- p.Arg193Pro Single submitter ⚠
- p.Arg193Ser Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg25Gly Single submitter ⚠
- p.Arg25Ser Single submitter ⚠
- p.Arg301His Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asn229His Single submitter ⚠
- p.Asp263fs Single submitter
- p.Asp295Asn Single submitter ⚠
- p.Asp53His Single submitter ⚠
- p.Gln139Arg Single submitter ⚠
- p.Gln312Ter Single submitter
- p.Glu112Gly Single submitter ⚠
- p.Glu141Gln Single submitter ⚠
- p.Glu141Lys Single submitter ⚠
- p.Glu79Asp Single submitter ⚠
- p.Gly118Arg Single submitter ⚠
- p.Gly126Ala Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Gly203Ser Single submitter ⚠
- p.Gly239Ser Single submitter ⚠
- p.Gly275Ala Single submitter ⚠
- p.Gly62Asp Single submitter ⚠
- p.Gly62Ser Single submitter ⚠
- p.Gly74Ala Single submitter ⚠
- p.His32Tyr Single submitter ⚠
- p.Ile211Ser Single submitter ⚠
- p.Ile236Phe Single submitter ⚠
- p.Ile63Asn Single submitter ⚠
- p.Lys272Glu Single submitter ⚠
- p.Lys60Asn Single submitter ⚠
- p.Met278Thr Single submitter ⚠
- p.Met309Thr Single submitter ⚠
- p.Phe103Leu Single submitter ⚠
- p.Phe113Ile Single submitter ⚠
- p.Phe232Ser Single submitter ⚠
- p.Phe270Ile Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro281Leu Single submitter ⚠
- p.Pro281Ser Single submitter ⚠
- p.Pro284Ser Single submitter ⚠
- p.Pro299Leu Single submitter ⚠
- p.Pro304His Single submitter ⚠
- p.Ser162Phe Single submitter ⚠
- p.Thr300Ser Single submitter ⚠
- p.Thr303Ile Single submitter ⚠
- p.Thr87Ala Single submitter ⚠
- p.Val121Leu Single submitter ⚠
- p.Val133Ile Single submitter ⚠
- p.Val215Ile Single submitter ⚠
- p.Val91Ile Single submitter ⚠
- p.Val99Glu Single submitter ⚠