DNAJB2 — 332 ClinVar variants
All ClinVar germline DNAJB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
9 Pathogenic · 1 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 6 Conflicting · 17 Benign · 2 Benign/Likely benign · 152 Likely benign · 130 Uncertain significance
Full DNAJB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DNAJB2 p.Glu253Lys
Likely pathogenic
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAJB2 p.Val208Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DNAJB2 p.Arg62Trp
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Asp252His
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Asp66Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJB2 p.Met185Ile
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Phe157Val
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Pro225Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJB2 p.Ser170Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJB2 p.Ala14Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Ala14Val
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ala22Glu
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ala22Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Ala269Thr
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ala274Thr
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ala2Thr
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
- DNAJB2 p.Ala52Thr Uncertain significance Single submitter
-
DNAJB2 p.Arg177His
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg191Leu
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg24Gln
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg24Trp
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg70Gln
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg82Gln
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg82Pro
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg97Cys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
- DNAJB2 p.Asp149Asn Uncertain significance Single submitter
-
DNAJB2 p.Asp210Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Asp33Glu
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Asp66Tyr
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Asp9Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Gln175Arg
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gln224Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Gln290Glu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease
-
DNAJB2 p.Glu100Gly
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Glu115Asp
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gly130Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Gly130Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Gly188Arg
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gly207Val
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gly276Glu
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
- DNAJB2 p.Gly302Val Uncertain significance Single submitter
-
DNAJB2 p.Gly89Arg
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ile64Val
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Leu214Pro
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Leu73Pro
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Lys59Arg
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Met185Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Met259Val
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Phe113Leu
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Phe123Ser
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Phe137Leu
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Pro145Ser
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Pro244Ser
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ser247Gly
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ser57Cys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ser87Gly
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
- DNAJB2 p.Thr78Ser Uncertain significance Single submitter
-
DNAJB2 p.Tyr23Cys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Tyr261Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Val167Ile
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
Predictors split 64
The independent predictors disagree with each other — read with care.
-
DNAJB2 p.Arg104Gln
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg165Cys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease
-
DNAJB2 p.Arg178His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJB2 p.Arg182Cys
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg191Gln
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg191Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJB2 p.Arg25Cys
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg310Cys
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg67Ser
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg70Trp
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg82Trp
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Asp248Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJB2 p.Asp254Gly
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gln224Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJB2 p.Glu222Lys
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Glu253Gln
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Pro136Ala
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Pro209Ser
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ser152Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJB2 p.Ser152Pro
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ser158Ile
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Thr76Pro
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Thr95Asn
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg129Gln
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg129Trp
Conflicting
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg132Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Arg165His
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg177Cys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg183Lys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg220His
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg220Ser
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg221His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Arg25His
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg277Trp
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
- DNAJB2 p.Arg283Trp Uncertain significance Single submitter
-
DNAJB2 p.Arg67Cys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg67Gly
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
- DNAJB2 p.Arg67His Uncertain significance Single submitter
-
DNAJB2 p.Arg97His
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Asn187Tyr
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gln256Leu
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Glu195Gln
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Glu217Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Glu51Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Glu63Lys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Glu6Gly
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gly108Ala
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gly130Asp
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Gly79Asp
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
- DNAJB2 p.Leu296Phe Uncertain significance Single submitter
-
DNAJB2 p.Phe150Ser
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Pro159Arg
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Ser109Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Ser142Phe
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
- DNAJB2 p.Ser148Pro Uncertain significance Single submitter
-
DNAJB2 p.Ser153Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Ser15Pro
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Thr180Ala
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Thr78Ile
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Thr95Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJB2 p.Tyr68Cys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Tyr68Phe
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Val174Phe
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 5
-
DNAJB2 p.Arg310His
Likely benign
No assertion criteria
DNAJB2-related disorder
All DNAJB2 variants
Pathogenic 9
- c.352+1G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Glu40fs Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- c.229+1G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.229+2T>A Single submitter Inborn genetic diseases
- c.620-1G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Arg132Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Glu115Ter Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Glu40Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Tyr68Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
Pathogenic/Likely pathogenic 1
- c.175+2T>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
Likely pathogenic 15
- c.65+1G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+1G>C Single submitter DNAJB2-related disorder
- c.175+3A>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.176-2A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.352+1G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.353-1G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.445+1G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.446-1G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.446-1G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.446-2A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.65+1G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Arg104fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Glu253Lys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Tyr5Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Tyr53Ter No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 5
Conflicting classifications of pathogenicity 6
- c.230-2A>G Single submitter Inborn genetic diseases
- c.353-24_357del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Arg129Trp Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ser148= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Trp30Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Val208Ile Single submitter Inborn genetic diseases ⚠
Benign 17
- c.176-244G>T Multiple submitters
- c.176-38C>T Multiple submitters
- c.230-10G>A Multiple submitters Charcot-Marie-Tooth disease
- c.352+325G>T Multiple submitters
- c.445+81C>T Multiple submitters
- c.446-88C>T Multiple submitters
- c.446-8G>A Multiple submitters Charcot-Marie-Tooth disease
- c.66-14C>T Multiple submitters Charcot-Marie-Tooth disease
- c.-34C>A Multiple submitters
- c.-36-110G>C Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- c.-37+20T>G Multiple submitters
- c.*1072G>A Multiple submitters
- p.Gly270Arg Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- c.230-51dup Single submitter
- c.65+15A>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.66-18T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.*1267C>T Single submitter
Benign/Likely benign 2
- p.Glu100Lys Multiple submitters Inborn genetic diseases
- p.Tyr65= Multiple submitters Inborn genetic diseases
Likely benign 152
- c.175+228A>G Multiple submitters
- c.175+247C>T Multiple submitters
- c.176-292T>A Multiple submitters
- c.176-296T>C Multiple submitters
- c.352+179C>T Multiple submitters
- c.353-12T>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- c.446-17C>G Multiple submitters Charcot-Marie-Tooth disease
- c.619+69C>T Multiple submitters
- c.620-19G>A Multiple submitters Charcot-Marie-Tooth disease
- c.620-22_620-20del Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- c.66-4G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- c.-23C>T Multiple submitters
- c.*1272G>C Multiple submitters
- c.*17G>T Multiple submitters Charcot-Marie-Tooth disease
- c.*78C>G Multiple submitters
- p.Ala83= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gln235Glu Multiple submitters Inborn genetic diseases
- p.Glu253= Multiple submitters Inborn genetic diseases
- p.Leu120= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Leu263= Multiple submitters Inborn genetic diseases
- p.Leu322= Multiple submitters Charcot-Marie-Tooth disease
- p.Pro273= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ser247= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Tyr261= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+10G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+11G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+13G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+17G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+19C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+7G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+9C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.175+9C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.176-10_176-9del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.176-17C>G Single submitter
- c.176-20G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.229+8G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.229+9A>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.230-15A>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.230-19C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.230-4C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.352+19C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.352+20C>G Single submitter Charcot-Marie-Tooth disease
- c.352+36T>G Single submitter
- c.352+7G>A Single submitter
- c.352+8G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.353-4G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.353-9T>G Single submitter Charcot-Marie-Tooth disease
- c.445+11C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.445+17C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.445+8C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.445+9T>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.446-16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.446-46TCT[2] Single submitter
- c.446-4C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.446-7A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.446-9C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.548+13T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.548+13T>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.548+14C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.548+19G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.548+7G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.549-4A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.549-9C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.619+16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.619+8G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.620-6T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.620-9C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.65+10T>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.65+7G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.65+9C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.66-11A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.66-16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.66-21_66-19del Single submitter
- c.-35C>G Single submitter
- c.-36-11C>G Single submitter
- c.-36-92T>C Single submitter
- c.-37+10G>C Single submitter
- c.-37+75C>T Single submitter
- c.*1021G>A Single submitter
- c.*980C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.*981G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.*988C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.*990C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.*995C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ala213= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ala22= Single submitter Inborn genetic diseases
- p.Ala241= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ala258= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ala27= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ala52= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Arg221= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Arg24= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Arg277Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Arg70= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Asn187= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Asp17= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Asp252= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Asp33= Single submitter
- p.Asp9= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Cys243= Single submitter
- p.Gln199= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gln235= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gln280Arg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Glu101= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Glu125= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Glu196= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly108= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly121= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly135= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly146= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly160= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly215= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly72= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly79= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly86= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly88= Single submitter Charcot-Marie-Tooth disease
- p.His147= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ile205= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ile7= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Leu116= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Leu214= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Leu216= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Leu56= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Lys21= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Phe123= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Phe137= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Phe140= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Phe41= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Phe96= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Pro11= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Pro122= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Pro136= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Pro225= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Pro240= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Pro32= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Pro99= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ser141= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ser142= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ser143= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ser151= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ser153= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ser231= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ser250= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Thr169= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Thr239= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Tyr5= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Val194= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Val236= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Val49= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Val55= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Arg310His No assertion criteria DNAJB2-related disorder ⚠
- p.Asp211= No assertion criteria DNAJB2-related disorder
Uncertain significance 130
- p.Arg104Gln Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg165Cys Multiple submitters Charcot-Marie-Tooth disease ⚠
- p.Arg178His Multiple submitters Inborn genetic diseases ⚠
- p.Arg182Cys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg191Gln Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg191Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg25Cys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg310Cys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg62Trp Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg67Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg70Trp Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg82Trp Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Asp248Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp252His Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Asp254Gly Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Asp66_Tyr68del Multiple submitters Inborn genetic diseases
- p.Asp66Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln224Pro Multiple submitters Inborn genetic diseases ⚠
- p.Glu222Lys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Glu253Gln Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Met185Ile Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Phe157Val Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Pro136Ala Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Pro209Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Pro225Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser152Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser152Pro Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ser158Ile Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ser170Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr76Pro Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Thr95Asn Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- c.446-3C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.548+4A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.548+5G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.65+12C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.65+5G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- c.*995C>T Single submitter Inborn genetic diseases
- p.Ala14Thr Single submitter Inborn genetic diseases ⚠
- p.Ala14Val Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ala213_Leu216dup Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Ala22Glu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ala22Pro Single submitter Inborn genetic diseases ⚠
- p.Ala269Thr Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ala274Thr Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ala2Thr Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ala52Thr Single submitter ⚠
- p.Arg129Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg132Gln Single submitter Inborn genetic diseases ⚠
- p.Arg165His Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg177Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg177His Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg183Lys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg191Leu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg220His Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg220Ser Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg221His Single submitter Inborn genetic diseases ⚠
- p.Arg24Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg24Trp Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg25His Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg277Trp Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg283Trp Single submitter ⚠
- p.Arg67Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg67Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg67His Single submitter ⚠
- p.Arg70Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg82Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg82Pro Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg97Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Arg97His Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Asn187Tyr Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Asp149Asn Single submitter ⚠
- p.Asp210Gly Single submitter Inborn genetic diseases ⚠
- p.Asp33Glu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Asp66Tyr Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Asp9Glu Single submitter Inborn genetic diseases ⚠
- p.Gln175Arg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gln224Glu Single submitter Inborn genetic diseases ⚠
- p.Gln256Leu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gln290Glu Single submitter Charcot-Marie-Tooth disease ⚠
- p.Glu100Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Glu115Asp Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Glu195Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Glu217Gln Single submitter Inborn genetic diseases ⚠
- p.Glu51Gln Single submitter Inborn genetic diseases ⚠
- p.Glu63Lys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Glu6Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gly108Ala Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gly130Ala Single submitter Inborn genetic diseases ⚠
- p.Gly130Asp Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gly130Ser Single submitter Inborn genetic diseases ⚠
- p.Gly188Arg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gly207Val Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gly275= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Gly276Glu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gly302Val Single submitter ⚠
- p.Gly79Asp Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Gly89Arg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ile64Val Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Leu214Pro Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Leu296Phe Single submitter ⚠
- p.Leu73Pro Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Lys59Arg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Met185Thr Single submitter Inborn genetic diseases ⚠
- p.Met259Val Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Phe113Leu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Phe123Ser Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Phe137Leu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Phe138del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5
- p.Phe150Ser Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Pro145Ser Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Pro159Arg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Pro244Ser Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ser109Ile Single submitter Inborn genetic diseases ⚠
- p.Ser142Phe Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ser148Pro Single submitter ⚠
- p.Ser153Pro Single submitter Inborn genetic diseases ⚠
- p.Ser15Pro Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ser247Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ser57Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Ser87Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Thr180Ala Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Thr78Ile Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Thr78Ser Single submitter ⚠
- p.Thr95Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr23Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Tyr261Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr68Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Tyr68Phe Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Val167Ile Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠
- p.Val174Phe Single submitter neuronopathy, distal hereditary motor, autosomal recessive 5 ⚠