DNAJB6 — 496 ClinVar variants

All ClinVar germline DNAJB6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 34 Conflicting · 51 Benign · 14 Benign/Likely benign · 149 Likely benign · 236 Uncertain significance

Full DNAJB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 183

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 9

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

DNAJB6 p.Ala272Val Conflicting Single submitter
Inborn genetic diseases
DNAJB6 p.Ala50Val Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg201Lys Conflicting Single submitter
muscular dystrophy, limb-girdle, autosomal dominant
DNAJB6 p.Arg313Lys Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asn325Thr Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asp236Asn Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu314Lys Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser321Leu Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr137Met Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Predictors lean, ClinVar uncertain 93

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

DNAJB6 p.Ala22Val Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala252Thr Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala288Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Ala296Thr Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg127Ser Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg244Gln Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asp18Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Gln310Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Glu102Lys Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu214Gln Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly138Arg Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly165Glu Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly212Asp Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly290Ala Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly290Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Gly290Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.His274Arg Uncertain significance Multiple submitters
DNAJB6 p.Ile191Val Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ile203Thr Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ile229Val Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Lys308Arg Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Lys311Arg Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe115Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Pro109Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Pro286Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Pro289Arg Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser183Gly Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser316Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Thr193Ala Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Tyr68Cys Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala22Thr Uncertain significance Single submitter
DNAJB6 p.Ala239Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala249Pro Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala252Pro Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala272Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala298Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala298Thr Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg101Thr Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg242Leu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg24Trp Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg313Thr Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg62Trp Uncertain significance Single submitter
DNAJB6 p.Arg94Cys Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asn230Asp Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asn325Ser Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Asp117Tyr Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Asp221Asn Uncertain significance Single submitter
DNAJB6 p.Asp236Gly Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asp58Gly Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asp58His Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Cys275Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Cys275Trp Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gln223Leu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gln48Glu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu217Asp Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu54Lys Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly124Glu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly128Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly170Arg Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly256Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly324Cys Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly324Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly90Arg Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.His326Asn Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Leu224Phe Uncertain significance Single submitter
DNAJB6 p.Leu257His Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Leu257Pro Uncertain significance Single submitter
DNAJB6 p.Leu295Val Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Lys206Thr Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Lys309Gln Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Met197Thr Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Met197Val Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe100Ser Uncertain significance Single submitter
DNAJB6 p.Phe110Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe114Val Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe144Leu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe164Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Pro129His Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Pro129Thr Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Pro254Arg Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Pro291Thr Uncertain significance Single submitter
DNAJB6 p.Pro36Ser Uncertain significance Single submitter
DNAJB6 p.Ser174Pro Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser190Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Ser192Pro Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser267Pro Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser57Leu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr204Ile Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr322Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr92Pro Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Tyr65Cys Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Val232Ala Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Val99Ala Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Predictors split 81

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

DNAJB6 p.Ala237Pro Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg215Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Arg258Cys Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg264Gln Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asn199Ser Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asp121Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Asp234Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Glu241Lys Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu278Gln Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu282Lys Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu41Ala Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly171Val Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly77Glu Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly77Val Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Leu167Val Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Lys45Glu Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Lys60Arg Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe122Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Phe188Leu Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Pro260Leu Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser226Ala Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser316Trp Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr159Ile Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr173Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJB6 p.Thr195Ala Uncertain significance Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala143Val Conflicting Single submitter
Inborn genetic diseases
DNAJB6 p.Ala14Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala237Val Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala239Pro Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala266Val Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ala59Asp Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg126Gln Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg135Gln Conflicting Single submitter
Inborn genetic diseases
DNAJB6 p.Arg215Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg242His Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg242Pro Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Arg244Trp Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg258His Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Arg264Trp Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asn95Lys Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asp113Glu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asp234Asn Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Asp63Gly Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu280Gly Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu280Lys Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu41Gly Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Glu71Ala Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly131Val Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly138Glu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly212Ser Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Gly246Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly78Glu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Gly79Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ile19Val Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ile203Val Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ile64Met Uncertain significance Single submitter
DNAJB6 p.Leu227Phe Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Lys20Arg Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Lys21Arg Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Lys61Arg Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Met197Lys Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe112Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe114Leu Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe119Leu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe140Cys Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Phe157Tyr Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe83Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Phe89Leu Conflicting Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Pro254Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Pro259Leu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Pro259Ser Uncertain significance Single submitter
DNAJB6 p.Ser142Phe Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser163Leu Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Ser85Gly Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr159Lys Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr195Asn Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Thr195Ser Uncertain significance Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6 p.Val209Phe Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Val49Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Val99Ile Uncertain significance Single submitter
Inborn genetic diseases
DNAJB6 p.Glu282Val Likely benign No assertion criteria
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

All DNAJB6 variants

Pathogenic 9

p.Phe89Ile Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe91Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro96Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asp98del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe91Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe93Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro96Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.346+5G>A No assertion criteria autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe100Val No assertion criteria autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Pathogenic/Likely pathogenic 1

p.Phe91Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Likely pathogenic 2

p.Gly79Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe100Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Conflicting classifications of pathogenicity 34

c.235+9G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.236-3C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.347-14A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.479-10T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.479-5T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.621-4A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*610C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*934C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala143Val Single submitter Inborn genetic diseases ⚠
p.Ala22= Single submitter Inborn genetic diseases
p.Ala272Val Single submitter Inborn genetic diseases ⚠
p.Ala50Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg135Gln Single submitter Inborn genetic diseases ⚠
p.Arg201Lys Single submitter muscular dystrophy, limb-girdle, autosomal dominant ⚠
p.Arg313Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asn211= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asn325Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asp236Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu241= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu314Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly146= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly153= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly170= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly171= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Lys21= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe114Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe188= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe89Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser277= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser297= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser321Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr137= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Thr137Met Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr92= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Benign 51

c.175+152T>C Multiple submitters
c.175+187C>T Multiple submitters
c.175+79T>C Multiple submitters
c.176-20A>G Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.235+168G>A Multiple submitters
c.236-24A>G Multiple submitters
c.346+180C>T Multiple submitters
c.65+45A>G Multiple submitters
c.692-137A>G Multiple submitters
c.898+239C>T Multiple submitters
c.899-118T>C Multiple submitters
c.899-140G>A Multiple submitters
c.899-163C>T Multiple submitters
c.899-252C>T Multiple submitters
c.899-6C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.899-93C>T Multiple submitters
c.-26-218C>T Multiple submitters
c.-26-7C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*699T>C Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*759C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.175+247G>A Single submitter
c.175+278G>C Single submitter
c.235+19dup Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.346+194A>G Single submitter
c.347-115_347-111del Single submitter
c.478+159_478+161dup Single submitter
c.479-194C>G Single submitter
c.479-262G>T Single submitter
c.620+18A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.620+249_620+256del Single submitter
c.621-8dup Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.65+12del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.65+297T>C Single submitter
c.691+209T>G Single submitter
c.691+240dup Single submitter
c.692-207T>A Single submitter
c.-27+144C>T Single submitter
c.-27+191A>T Single submitter
c.-43G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.-85G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*306C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*382G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*604C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*639A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*726A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*776C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*787G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*902C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*922C>T Single submitter
c.*923G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala27= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Benign/Likely benign 14

c.692-13G>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.-63C>G Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.-86G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*514G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*72C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*88G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*966C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala143= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Arg287Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.His169= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe93= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser139= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser316= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser321Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Likely benign 149

c.175+13G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.235+8C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.346+13C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.347-146C>T Multiple submitters
c.620+114C>T Multiple submitters
c.691+19G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-70C>T Multiple submitters
c.898+130G>A Multiple submitters
p.Ala266= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro259= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Tyr23= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.175+12C>T Single submitter
c.175+60G>A Single submitter
c.175+9C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.176-10C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.176-119C>T Single submitter
c.176-11T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.176-12T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.176-164G>A Single submitter
c.176-19C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.176-50T>C Single submitter
c.235+12A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.235+13G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.235+18T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.235+20C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.235+20C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.235+288A>G Single submitter
c.235+65A>T Single submitter
c.235+9del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.235+9G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.236-17G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.236-345G>A Single submitter
c.236-9T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.346+11C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.346+19T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.346+19T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.347-12_347-6del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.347-17T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.347-18G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.347-19T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.478+12C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.478+223A>G Single submitter
c.478+321_478+324del Single submitter
c.478+64T>A Single submitter
c.479-14C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.479-18T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.620+16G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.620+17C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.620+19T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.621-15A>T Single submitter
c.621-16A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.621-17G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.621-18T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.621-18T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.621-6C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.621-7C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.65+151_65+152insAAG Single submitter
c.65+17C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.65+17C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.65+9T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.66-12A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.66-16C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.66-5C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.66-6T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.66-79G>C Single submitter
c.66-9C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.691+18C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.691+8G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.691+9C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-12C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-13G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-14C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-16C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-20C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-26CT[6] Single submitter
c.692-6C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-6C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.692-8G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.898+10G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.898+15G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.898+17A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.898+20C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.898+51G>T Single submitter
c.899-12G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.899-12G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.899-13C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.899-5C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.-26-55C>T Single submitter
c.*17G>A Single submitter
p.Ala233= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala249= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala255= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala272= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala50= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala52= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala59= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Arg133= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Arg201= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asn248= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asn38= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asp113= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asp234= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asp235= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asp235Glu Single submitter Inborn genetic diseases
p.Asp63= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Cys275= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gln213= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu219= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu278= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu279= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly136= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly181= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly212= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly290= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly69= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly9= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.His271= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.His274= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ile19= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Leu250= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Leu295= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Leu56= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Leu73= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Lys189= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Lys25= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Lys317= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Lys45= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Lys61= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe144= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro148= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro16= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro260= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro289= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro294= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro86= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser111= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser174= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser226= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser267= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser321= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser57= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Thr178= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Thr228= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Tyr68= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Val198= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Val216= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Val55= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Val7= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu282Val No assertion criteria autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠

Uncertain significance 236

c.66-2A>G Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.-7G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*3C>T Multiple submitters
p.Ala22Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala237Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala252Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala288Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala296Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg126Ter Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Arg127Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg215Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg244Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg258Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg264Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asn199Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asn38fs Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Asp121Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp18Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp234Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln310Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu102Lys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu214Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu241Lys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu278Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu280_Gly281insGluGlu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu282Lys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu282Ter Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu41Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly138Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly165Glu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly171Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly212Asp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly290Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly290Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly290Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly77Glu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly77Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.His274Arg Multiple submitters ⚠
p.Ile191Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ile203Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ile229Val Multiple submitters Inborn genetic diseases ⚠
p.Leu167Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys308Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys311Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys320del Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant
p.Lys45Glu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys60Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe115Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe122Tyr Multiple submitters Inborn genetic diseases ⚠
p.Phe123del Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe188Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Pro109Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro260Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Pro286Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro289Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser183Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser226Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser316Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser316Trp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser321_Gly324dup Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Thr159Ile Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr173Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr193Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr195Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Tyr68Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
c.176-8A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.236-1G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.347-3569A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.478+10C>T Single submitter
c.478+5T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.620+16_620+17delinsAT Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.620+6G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.620+9G>A Single submitter
c.621-17_621-16delinsTG Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.65+2T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.66-3A>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.898+1G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.-108C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.-77G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.-8C>G Single submitter
c.-8C>T Single submitter
c.-93G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*1008G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*105C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*118G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*1236G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*215C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*243T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*289C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*299A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*307G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*502A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*513C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*528C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*586T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*606A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*636T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*64C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*664A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*72C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*781C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*965T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
c.*98A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala14Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala22Thr Single submitter ⚠
p.Ala237Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala239Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala239Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala249Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala252_Gln253insLeuProAla Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ala252Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala266Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala272Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala298Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala298Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ala59Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg101Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg126Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg130Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Arg215Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg242fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Arg242His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg242Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg242Pro Single submitter Inborn genetic diseases ⚠
p.Arg244Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg24Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg258His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg264Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg313Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Arg62Trp Single submitter ⚠
p.Arg94Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asn230Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asn325Ser Single submitter Inborn genetic diseases ⚠
p.Asn95Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asp113Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asp117Tyr Single submitter Inborn genetic diseases ⚠
p.Asp221Asn Single submitter ⚠
p.Asp234Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asp236Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asp58Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asp58His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asp63Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Asp98_Phe100del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Cys275Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Cys275Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gln223Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gln48Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu17Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu217Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu280Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu280Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu314fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Glu41Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu54Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Glu71Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly124Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly128Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly131Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly138Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly170Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly212Ser Single submitter Inborn genetic diseases ⚠
p.Gly246Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly256Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly281= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Gly324Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly324Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly78Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly79Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Gly90Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.His326Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ile19Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ile203Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ile64Met Single submitter ⚠
p.Leu224Phe Single submitter ⚠
p.Leu227Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Leu238_Met243dup Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Leu257His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Leu257Pro Single submitter ⚠
p.Leu295Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys206Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys20Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys21Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys309Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Lys320Ser Single submitter
p.Lys61Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Met197Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Met197Thr Single submitter Inborn genetic diseases ⚠
p.Met197Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe100Ser Single submitter ⚠
p.Phe110Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe112Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe114Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Phe114Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe119Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe140Cys Single submitter Inborn genetic diseases ⚠
p.Phe144Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe157Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe164Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe83Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Phe93fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro129His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Pro129Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Pro16fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro254Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Pro254Leu Single submitter Inborn genetic diseases ⚠
p.Pro259Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Pro259Ser Single submitter ⚠
p.Pro263Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Pro291Thr Single submitter ⚠
p.Pro36Ser Single submitter ⚠
p.Ser142Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser156fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Ser163Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser174Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser190Leu Single submitter Inborn genetic diseases ⚠
p.Ser192Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser267Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser57Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ser85Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Ter327Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Thr159Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr195Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr195fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Thr195Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr204Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr322Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Thr92Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Trp292Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Tyr23Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
p.Tyr65Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Val209Phe Single submitter Inborn genetic diseases ⚠
p.Val232Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Val49Leu Single submitter Inborn genetic diseases ⚠
p.Val99Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ⚠
p.Val99Ile Single submitter Inborn genetic diseases ⚠
p.Leu26= No assertion criteria Muscle weakness