RBCK1 — 559 ClinVar variants

All ClinVar germline RBCK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 190 flagged for review →

31 Pathogenic · 6 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 11 Conflicting · 34 Benign · 10 Benign/Likely benign · 239 Likely benign · 213 Uncertain significance

Full RBCK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 190

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.

RBCK1 p.Asn387Ser Likely pathogenic Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency

Predictors agree, ClinVar conflicts 8

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

RBCK1 p.Arg134Cys Conflicting Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg446His Conflicting Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Asn261Ser Conflicting Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Cys371Phe Conflicting Single submitter
glycogen storage disease due to glycogen branching enzyme deficiency
RBCK1 p.Gln249Arg Conflicting Single submitter
Inborn genetic diseases
RBCK1 p.Glu471Lys Conflicting Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ser287Leu Conflicting Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr303Ala Conflicting Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency

Predictors lean, ClinVar uncertain 144

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

RBCK1 p.Ala20Val Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ala228Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Ala280Val Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg109Gln Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg17Gln Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg183Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Arg253Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Arg314Cys Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg314His Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Arg38Gln Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg464Cys Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg76Cys Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Asp269Glu Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Asp2Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Gln111Glu Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln257Leu Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln267Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Gln270Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Gln449Arg Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln507Arg Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu10Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Glu191Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Glu222Asp Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu235Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Glu278Val Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu433Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Gly184Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Ile326Val Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Lys158Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Lys457Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Lys477Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Met445Val Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Pro172Thr Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Pro186Ala Uncertain significance Multiple submitters
RBCK1 p.Pro193Ser Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ser14Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Ser331Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Ser333Leu Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr113Ile Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr161Met Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Thr52Ala Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr68Ala Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Trp58Ser Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val397Ile Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val497Ile Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Val69Ile Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Val69Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Val97Ala Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Ala219Val Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ala280Thr Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ala294Ser Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ala319Val Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ala422Thr Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ala82Val Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg106Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg120Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg134Leu Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg145Leu Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg150Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg150Trp Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg165Trp Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Arg17Gly Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Arg183Trp Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Arg218Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg218Leu Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg220Cys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg237Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg248His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg248Ser Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg271Lys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg364His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg429Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg480Cys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg480His Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Arg480Pro Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Arg494His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg76His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg76Pro Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Asp187Glu Uncertain significance Single submitter
RBCK1 p.Asp233Asn Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Asp385Gly Uncertain significance Single submitter
RBCK1 p.Cys282Tyr Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Cys332Ser Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln100His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln225Arg Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln252Lys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln255His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln257Arg Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gln44His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu146Lys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu234Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu235Asp Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Glu235Gly Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu244Asp Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu245Ala Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Glu24Ala Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu278Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu318Asp Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Glu388Asp Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Glu48Ala Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gly166Cys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gly201Trp Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gly260Arg Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Gly357Ser Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gly499Arg Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.His265Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ile32Val Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Leu138Phe Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Leu155Met Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Leu247Arg Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Leu90Arg Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Lys254Glu Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Lys456Asn Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Lys6Arg Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Lys7Glu Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Met28Val Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Phe304Leu Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Pro140Leu Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Pro170Thr Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Pro173Ala Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Pro181His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Pro194Leu Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ser272Gly Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Ser333Pro Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ser505Asn Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Ser50Phe Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr161Ala Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr16Ile Uncertain significance Single submitter
RBCK1 p.Thr277Met Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Thr329Asn Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr390Ile Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr431Met Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr52Met Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr68Ile Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr70Ile Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Trp462Arg Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val177Ala Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val177Asp Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Val189Leu Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Val426Met Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val437Met Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val453Met Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val49Ala Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val97Gly Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency

Predictors split 37

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

RBCK1 p.Arg120Trp Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg145Trp Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg429Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Arg446Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Asp233Glu Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Asp385Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Asp86His Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Glu62Val Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Gly334Asp Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Pro347Arg Uncertain significance Multiple submitters
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr373Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RBCK1 p.Ala343Val Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg237Gly Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg237Pro Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg248Pro Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Arg253Pro Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg339Lys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg352Gln Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg364Cys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg421Trp Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg464Gly Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Arg494Cys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Asn261Lys Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Asp233His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Asp461Asn Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Cys285Trp Uncertain significance Single submitter
RBCK1 p.Gly292Ser Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Met434Ile Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Pro279His Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Pro279Leu Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Ser331Trp Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Thr470Ala Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Tyr330Cys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Tyr350Cys Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val296Met Uncertain significance Single submitter
Inborn genetic diseases
RBCK1 p.Val59Leu Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency
RBCK1 p.Val81Ala Uncertain significance Single submitter
polyglucosan body myopathy 1 with or without immunodeficiency

All RBCK1 variants

Pathogenic 31

p.Arg352Ter Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys371fs Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu243fs Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu299fs Multiple submitters RBCK1-related disorder
p.Tyr250fs Multiple submitters Inborn genetic diseases
c.582+1G>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala238fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg109Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg17Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg239fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp385fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys394fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln111Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln163Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln251Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln258Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln264Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln317Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu222fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly196fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ile313fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Phe382fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro175fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser60Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Trp101Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Trp379Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Trp462Ter Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln185Ter No assertion criteria Polyglucosan body myopathy 1 with immunodeficiency
p.Gln231fs No assertion criteria Polyglucosan body myopathy 1 with immunodeficiency
p.Leu273fs No assertion criteria Polyglucosan body myopathy 1 without immunodeficiency
p.Leu41fs No assertion criteria Polyglucosan body myopathy 1 with immunodeficiency

Pathogenic/Likely pathogenic 6

c.1308+1G>T Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg421fs Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln249Ter Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu235fs Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Asn508fs No assertion criteria Polyglucosan body myopathy 1 without immunodeficiency
p.Gln267Ter No assertion criteria Polyglucosan body myopathy 1 without immunodeficiency

Likely pathogenic 15

c.582+1G>A Multiple submitters RBCK1-related disorder
c.1209+1G>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala228fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asn387Ser Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Cys202fs Single submitter RBCK1-related disorder
p.Glu243Ter Single submitter RBCK1-related disorder
p.Glu307Ter Single submitter RBCK1-related disorder
p.Gly242fs Single submitter Susceptibility to severe COVID-19
p.His370fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu13fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu301fs Single submitter RBCK1-related disorder
p.Thr489fs Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.461-2A>G No assertion criteria polyglucosan body myopathy 1 with or without immunodeficiency
c.583-1G>A No assertion criteria RBCK1-related disorder
p.Gln141fs No assertion criteria Polyglucosanbody Myopathy Typ 1

Conflicting classifications of pathogenicity 11

c.917+7C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg134Cys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg446His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Asn261Ser Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Cys202= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys332_Ser333del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys371Phe Single submitter glycogen storage disease due to glycogen branching enzyme deficiency ⚠
p.Gln249Arg Single submitter Inborn genetic diseases ⚠
p.Glu471Lys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ser287Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr303Ala Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠

Benign 34

c.1029+39C>G Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.1308+59C>T Multiple submitters
c.1308+63G>A Multiple submitters
c.1452+64T>C Multiple submitters
c.168-130TG[13] Multiple submitters
c.168-242C>T Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.22+33C>T Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.261+15G>T Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.461-162G>A Multiple submitters
c.756+132G>A Multiple submitters
c.756+136C>A Multiple submitters
c.756+140A>T Multiple submitters
c.756+141C>G Multiple submitters
c.756+147T>A Multiple submitters
c.756+154_756+171del Multiple submitters
c.757-15G>C Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.917+67C>A Multiple submitters
c.918-61A>G Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.-122G>A Multiple submitters
p.Glu48= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.1029+101dup Single submitter
c.1209+117T>A Single submitter
c.1209+24del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1309-30G>A Single submitter
c.167+356T>C Single submitter
c.23-215A>T Single submitter
c.461-223G>A Single submitter
c.461-230G>A Single submitter
c.756+134_756+150del Single submitter
c.757-16dup Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+11dup Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+202C>T Single submitter
p.Ala319= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Phe94= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency

Benign/Likely benign 10

c.1030-18G>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.1308+20G>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.1453-10C>T Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.167+501C>T Multiple submitters
c.168-20G>T Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.583-17G>C Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.756+3G>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala246= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala419= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser50= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency

Likely benign 239

c.1030-4G>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.1452+15G>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.22+11G>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.261+15G>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.262-17C>G Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.756+7G>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.917+9C>T Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala20= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala82= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg147= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg218= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp458= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys300= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu388= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu62= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly21= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Ile452= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro200= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro232= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro392= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser287= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr312= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr431= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr470= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr68= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
c.1029+7C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1029+8C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1030-10G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1030-11T>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1030-12G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1030-16C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1030-20A>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1209+11C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1209+17C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1209+8C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1210-19A>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1210-4A>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1210-7G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1210-8C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1210-9C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1308+12A>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1308+13C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1308+15G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1308+19C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1308+7C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1309-14C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1309-18G>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1452+14C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1452+15G>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1453-10del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1453-14C>T Single submitter
c.1453-4C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.167+10G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.167+498G>A Single submitter
c.167+513G>A Single submitter
c.167+513G>T Single submitter
c.167+9T>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.168-14G>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.168-16C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.168-20G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.22+17G>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.22+18G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.23-11C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.23-3C>T Single submitter
c.261+14C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.261+20G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.262-6C>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.262-6C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.460+12C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.460+13C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.460+14_460+47del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.460+15T>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.461-12C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.461-15A>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.461-4A>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.461-8C>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.582+14G>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.582+17C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.582+6C>T Single submitter
c.582+9_582+15dup Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.583-3C>T Single submitter
c.583-4C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.756+10A>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.756+334_756+353del Single submitter
c.757-10G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-10G>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-11C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-13C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-16C>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-16C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-20_757-8del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-20G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-4C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-6G>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.757-7T>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+12A>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+15C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+17C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+19C>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+19C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+19C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.917+7C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-11C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-12C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-14C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-16C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-18T>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-19_918-18del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-22_918-19del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-7C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.*11G>A Single submitter
p.Ala126= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala219= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala238= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala241= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala280= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala290= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala294= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala361= Single submitter
p.Ala444= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala8= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg145= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg150= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg183= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg237= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg239= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg248= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg314= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg339= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg494= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg496= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg76= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asn122= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asn424= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp110= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp124= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp154= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp159= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp23= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp23Glu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp327= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp355= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp461= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Asp54= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys285= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys332= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys402= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys460= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys465= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Cys502= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln100= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln111= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln198= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln44= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu348= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu383= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu407= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu413= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly118= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly171= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly176= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly196= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly201= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly292= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly311= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly442= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly459= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly478= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly482= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly491= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly93= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.His302= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.His370= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.His396= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.His406= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.His510= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ile313= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu107= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu128= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu149= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu152= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu162= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu240= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu289= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu297= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu301= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu309= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu336= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu337= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu34= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu356= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu400= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu435= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu57= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Leu73= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Lys207= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Lys4= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Lys412= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Lys477= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro164= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro172= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro175= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro178= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro181= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro190= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro192= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro211= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro221= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro227= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro279= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro291= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro448= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro47= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro501= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser116= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser125= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser229= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser316= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser331= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser333= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser490= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser60= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr161= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr203= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr209= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr277= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr303= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr329= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr373= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr390= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr466= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr476= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr52= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr70= Single submitter
p.Thr74= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Thr80= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Tyr224= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Val177= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Val288= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency

Uncertain significance 213

c.-9C>A Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Ala20Val Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ala228Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala280Val Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ala343= Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg109Gln Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg120Trp Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg145Trp Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg17Gln Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg183Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg253Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg314Cys Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg314His Multiple submitters Inborn genetic diseases ⚠
p.Arg38Gln Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg429Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg446Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg464Cys Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg76Cys Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Asp233Glu Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Asp269Glu Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Asp2Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp385Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp86His Multiple submitters Inborn genetic diseases ⚠
p.Gln111Glu Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln257Leu Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln267Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln270Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln449Arg Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln507Arg Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu10Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu191Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu222Asp Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu235Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu278Val Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu433Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu62Val Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gly184Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly22Arg Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly292Val Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly334Asp Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gly491Arg Multiple submitters Inborn genetic diseases
p.Ile326Val Multiple submitters Inborn genetic diseases ⚠
p.Lys158Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys457Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys477Arg Multiple submitters Inborn genetic diseases ⚠
p.Met445Val Multiple submitters Inborn genetic diseases ⚠
p.Pro172Thr Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Pro186Ala Multiple submitters ⚠
p.Pro193Ser Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Pro347Arg Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ser14Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser331Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser333Leu Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr113Ile Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr161Met Multiple submitters Inborn genetic diseases ⚠
p.Thr373Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr52Ala Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr68Ala Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Trp58Ser Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val397Ile Multiple submitters polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val497Ile Multiple submitters Inborn genetic diseases ⚠
p.Val69Ile Multiple submitters Inborn genetic diseases ⚠
p.Val69Leu Multiple submitters Inborn genetic diseases ⚠
p.Val97Ala Multiple submitters Inborn genetic diseases ⚠
c.1209+2_1209+3insA Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1209+6G>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1308+3G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1309-9C>T Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.1452+6T>C Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.167+3G>A Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.167+498G>T Single submitter
c.261+6_261+9del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.262-4C>G Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
c.918-353G>A Single submitter
p.Ala219Val Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ala280Thr Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ala294Ser Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ala319Val Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ala343Val Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ala422Thr Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ala82Val Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg106Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg106Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg120Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg134Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg145Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg150Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg150Trp Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg165Trp Single submitter Inborn genetic diseases ⚠
p.Arg17Gly Single submitter Inborn genetic diseases ⚠
p.Arg183Trp Single submitter Inborn genetic diseases ⚠
p.Arg218Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg218Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg220Cys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg237Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg237Gly Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg237Pro Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg248His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg248Pro Single submitter Inborn genetic diseases ⚠
p.Arg248Ser Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg253Pro Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg271Lys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg298His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg306= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Arg339Lys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg352Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg364Cys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg364His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg421Trp Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg429Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg464Gly Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg480Cys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg480His Single submitter Inborn genetic diseases ⚠
p.Arg480Pro Single submitter Inborn genetic diseases ⚠
p.Arg494Cys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg494His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg76His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Arg76Pro Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Asn261Lys Single submitter Inborn genetic diseases ⚠
p.Asp187Glu Single submitter ⚠
p.Asp233Asn Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Asp233His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Asp385Gly Single submitter ⚠
p.Asp461Asn Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Cys282Tyr Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Cys285Trp Single submitter ⚠
p.Cys332Ser Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln100His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln225Arg Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln252Lys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln255His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln257Arg Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gln258_Glu259insGln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln258del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gln44His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu146Lys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu153= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu234Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu235Asp Single submitter Inborn genetic diseases ⚠
p.Glu235Gly Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu236dup Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu244Asp Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu245Ala Single submitter Inborn genetic diseases ⚠
p.Glu24Ala Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu278Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu318Asp Single submitter Inborn genetic diseases ⚠
p.Glu388Asp Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Glu413Gly Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Glu48Ala Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gly166Cys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gly201Trp Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gly260Arg Single submitter Inborn genetic diseases ⚠
p.Gly292Ser Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gly357Ser Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Gly484= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Gly499Arg Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.His265Gln Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ile32Val Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Leu138Phe Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Leu155Met Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Leu247Arg Single submitter Inborn genetic diseases ⚠
p.Leu90Arg Single submitter Inborn genetic diseases ⚠
p.Lys254Glu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Lys377Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Lys456Asn Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Lys6Arg Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Lys7= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Lys7Glu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Met1Val Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Met28Val Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Met434Ile Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Phe304Leu Single submitter Inborn genetic diseases ⚠
p.Pro140Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Pro170= Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro170Thr Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Pro173Ala Single submitter Inborn genetic diseases ⚠
p.Pro181His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Pro194Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Pro232_Leu247dup Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Pro279His Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Pro279Leu Single submitter Inborn genetic diseases ⚠
p.Ser272Gly Single submitter Inborn genetic diseases ⚠
p.Ser331Trp Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ser333Pro Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ser365Ile Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Ser505Asn Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Ser50Phe Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr161Ala Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr16Ile Single submitter ⚠
p.Thr277Met Single submitter Inborn genetic diseases ⚠
p.Thr329Asn Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr390Ile Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr431Met Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr470Ala Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr52Met Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr68Ile Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Thr70Ile Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Trp462Arg Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Tyr330Cys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Tyr350Cys Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val177Ala Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val177Asp Single submitter Inborn genetic diseases ⚠
p.Val189Leu Single submitter Inborn genetic diseases ⚠
p.Val295Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Val296del Single submitter polyglucosan body myopathy 1 with or without immunodeficiency
p.Val296Met Single submitter Inborn genetic diseases ⚠
p.Val426Met Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val437Met Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val453Met Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val49Ala Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val59Leu Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val81Ala Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠
p.Val97Gly Single submitter polyglucosan body myopathy 1 with or without immunodeficiency ⚠