PEX13 — 592 ClinVar variants

All ClinVar germline PEX13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →

29 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 27 Conflicting · 11 Benign · 5 Benign/Likely benign · 181 Likely benign · 326 Uncertain significance

Full PEX13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 260

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 14

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

PEX13 p.Arg109Cys Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg197Trp Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly128Val Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile326Thr Conflicting Single submitter
peroxisome biogenesis disorder
PEX13 p.Ile394Phe Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu113Pro Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu221Val Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu48Phe Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Met298Thr Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ser264Thr Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ser76Gly Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ser77Thr Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Val119Ile Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Val286Ile Conflicting Single submitter
peroxisome biogenesis disorder 11A (Zellweger)

Predictors lean, ClinVar uncertain 205

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 205

PEX13 p.Ala364Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Arg107His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg194Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg194Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg202Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg226Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asn207Thr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asn357Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asn69Tyr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asn87Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp402Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln351His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln4Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Glu344Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Glu378Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Gly128Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Gly204Asp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly216Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Gly86Glu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile291Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Leu108Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Leu199Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu39Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu39Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys332Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys362Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Lys386Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Met145Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Phe118Tyr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Phe283Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Pro114Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Pro11Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Pro11His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro11Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro388Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro52Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Pro5Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Pro73Ala Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro9Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ser379Phe Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ser67Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Thr359Ala Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Thr365Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Thr38Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Tyr190Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Val137Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Val382Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Val68Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala153Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala160Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala20Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala219Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala231Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala268Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala295Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala33Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala376Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala376Val Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Ala390Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala47Gly Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Ala47Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg109His Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg109Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg127Ser Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Arg127Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg159Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg159Ser Uncertain significance Single submitter
PEX13 p.Arg15His Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg186Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg197Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg294Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg337Thr Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Arg340Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asn101Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asn357Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asn69Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp163His Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp163Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp263His Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp272Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp282Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp297Asn Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Asp319His Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp371His Uncertain significance Single submitter
PEX13 p.Cys220Trp Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Cys220Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln321Arg Uncertain significance Single submitter
PEX13 p.Gln321Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln351Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln351Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln353Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln353Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln45His Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Glu206Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Glu260Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Glu280Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Glu289Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Glu378Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly128Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly200Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly204Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly204Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly21Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly245Arg Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Gly335Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly363Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly395Ala Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Gly395Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly398Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly99Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.His167Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.His257Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile188Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile236Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile243Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile291Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile394Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile55Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu103Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu221Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu238Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu334Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu35Met Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu56Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys10Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys10Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys177Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys332Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys347Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys350Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys396Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys400Met Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Met145Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Met198Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Met198Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Met298Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Met298Val Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Met40Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Phe140Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Phe239Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Phe240Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Phe283Val Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro11Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro18Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro22Leu Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Pro22Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro24Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro327Arg Uncertain significance Single submitter
PEX13 p.Pro327Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Pro358Ala Uncertain significance Single submitter

Predictors split 41

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

PEX13 p.Ala2Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Arg189Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg189Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg189Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX13 p.Arg311His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Asp282Glu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Tyr90Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Tyr93Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala149Gly Uncertain significance Single submitter
PEX13 p.Ala165Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ala285Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg107Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg15Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg170Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Arg294Trp Conflicting Single submitter
PEX13-related disorder
PEX13 p.Arg311Gly Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Asn156Asp Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Asp209Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gln131His Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly104Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly23Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly23Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Gly335Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.His274Arg Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Ile188Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ile326Met Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu210Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Leu249Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Lys232Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Phe175Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Phe381Cys Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Phe381Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ser135Asn Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Ser3Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Ser80Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Thr150Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Tyr100Cys Uncertain significance Single submitter
Inborn genetic diseases
PEX13 p.Tyr105Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Tyr85Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 11A (Zellweger)
PEX13 p.Tyr96Cys Uncertain significance Single submitter
PEX13 p.Val119Ala Uncertain significance Single submitter
Inborn genetic diseases

All PEX13 variants

Pathogenic 29

p.Arg193fs Multiple submitters peroxisome biogenesis disorder
p.Arg226Ter Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Gln131Ter Multiple submitters peroxisome biogenesis disorder
p.Glu123Ter Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ala277fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg50fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gln196Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly99fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
p.His167fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ile291fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu199Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu254fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Lys10fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Met198fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Phe182Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Phe71fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro54fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro8fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser144fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Thr49fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Trp211Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Trp267Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Trp313Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr248Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr98Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Val286fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Val68fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Trp234Ter No assertion criteria peroxisome biogenesis disorder 11A (Zellweger)
p.Trp313Gly No assertion criteria peroxisome biogenesis disorder 11B

Pathogenic/Likely pathogenic 3

p.Arg16Ter Multiple submitters PEX13-related disorder
p.Arg170Ter Multiple submitters peroxisome biogenesis disorder
p.Tyr155Ter Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)

Likely pathogenic 10

c.787+1G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.92+1G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.93-1G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly36fs Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu325His Single submitter PEX13-related disorder
p.Ser287fs Single submitter PEX13-related disorder
p.Ter404Trp Single submitter
p.Trp12Ter Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Val178fs Single submitter PEX13-related disorder
p.Met147del No assertion criteria PEX13-related disorder

Conflicting classifications of pathogenicity 27

c.913+1G>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.-7G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2356T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala139= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg109Cys Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg197Trp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg294Trp Single submitter PEX13-related disorder ⚠
p.Gly128Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ile136= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ile326Thr Single submitter peroxisome biogenesis disorder ⚠
p.Ile394Phe Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu113Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu221Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu48Phe Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys338= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Lys386= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Met298Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe118= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Phe30Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro18= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser264Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser76Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser77Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr365= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Val119Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Val178= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Val286Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠

Benign 11

c.92+212A>G Multiple submitters
c.*1194G>A Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.*2147A>G Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.*358G>A Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.*952C>T Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.913+215G>A Single submitter
c.914-8dup Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1652G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1943G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*775G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala364Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger)

Benign/Likely benign 5

c.913+19G>A Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ala47= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Asp225Gly Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Leu360Val Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Val348= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)

Likely benign 181

c.787+12G>A Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.787+16G>A Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.788-82G>A Multiple submitters
c.914-103T>C Multiple submitters
c.92+100C>G Multiple submitters
c.92+10G>A Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.92+15C>T Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.92+20G>C Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.93-8G>C Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.-6G>C Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ala223= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ala328= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Asp259= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Asp368= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Gln353= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Leu254= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Pro46= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ser116= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ser152= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Thr150= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Thr359= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr98= Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
c.787+10C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.787+12G>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.787+7G>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.787+9A>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.788-5T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.788-7C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.788-8G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.788-9G>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.913+11A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.913+13G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.913+14A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.913+15A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.913+215G>T Single submitter
c.913+8A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-10T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-12T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-16_914-15insA Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-16C>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-17T>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-18G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-19T>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-4T>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-5A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-6C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-7C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.914-8T>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.92+11G>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.92+16T>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.92+18C>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.92+20G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.92+26G>C Single submitter
c.92+368T>C Single submitter
c.92+7G>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.93-11T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.93-12T>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.93-14T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.93-18A>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.93-3dup Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1724A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*3012A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*944C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala122= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala129= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala141= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala149= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala183= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala2= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala20= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala219= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala228= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala268= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala277= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala285= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala74= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg107= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg127= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg15= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg159= Single submitter
p.Arg170= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg186= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg189= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg193= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg194= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg197= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg278= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg337= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg42= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Arg58= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Asn106= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Asn156= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Asn357= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Asp273= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Asp319= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Asp397= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Cys220= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gln121= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gln307= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gln321= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gln351= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gln4= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gln401= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gln45= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Glu208= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Glu224= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Glu280= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Glu305= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Glu383= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly204= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly216= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly23= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly245= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly246= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly44= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly92= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly99= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ile188= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ile243= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ile250= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ile333= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu103= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu162= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu171= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu195= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu238= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu253= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu301= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu314= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu315= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu325= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Leu360= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Lys362= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Lys396= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Phe168= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Phe377= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro11= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro114= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro115= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro18= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro22= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro235= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro28= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro327= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro388= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro391= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro52= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro6= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro73= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro8= Single submitter
p.Pro9= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro95= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser126= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser142= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser169= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser180= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser269= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser3= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser32= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Thr14= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Thr187= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Thr29= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Thr323= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Thr342= Single submitter
p.Thr361= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Thr41= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Thr49= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr100= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr155= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr192= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr248= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr330= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Tyr90= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Val276= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Val380= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Val382= Single submitter
p.Val68= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.788-4A>G No assertion criteria PEX13-related disorder
c.914-30A>G No assertion criteria
p.Tyr85= No assertion criteria PEX13-related disorder
p.Tyr96= No assertion criteria PEX13-related disorder

Uncertain significance 326

Showing the top 300 by review status; the full set is in the sitemap.

c.913+3A>G Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ala2Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala302Gly Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ala364Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg107His Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg189Gln Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg189Leu Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg189Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg194Gln Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg194Trp Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg202Lys Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg226Gln Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg311Cys Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Arg311His Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asn207Thr Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asn357Ser Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asn69Tyr Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asn87Ser Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp282Glu Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp402Gly Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln351His Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln4Pro Multiple submitters Inborn genetic diseases ⚠
p.Glu344Lys Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Glu378Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly128Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly204Asp Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly216Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly86Glu Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly92Asp Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.His174Tyr Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ile291Val Multiple submitters Inborn genetic diseases ⚠
p.Leu108Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu199Ile Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu39Ser Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu39Val Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys332Arg Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys362Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys386Asn Multiple submitters Inborn genetic diseases ⚠
p.Met145Ile Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe118Tyr Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe283Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro114Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro11Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro11His Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro11Leu Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro388Leu Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro52Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro5Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro73Ala Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro9Arg Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro9His Multiple submitters peroxisome biogenesis disorder 11A (Zellweger)
p.Ser379Phe Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser67Arg Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr359Ala Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr365Met Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr38Asn Multiple submitters Inborn genetic diseases ⚠
p.Tyr190Cys Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Tyr90Cys Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Tyr93Cys Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Val137Met Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Val382Leu Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Val68Met Multiple submitters peroxisome biogenesis disorder 11A (Zellweger) ⚠
c.787+6A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.913+5T>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.92+6T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.-12G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1005C>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1174A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1283C>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1376C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1377G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1416G>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1480C>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1533G>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1564C>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1566A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1649C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1654T>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*170C>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1925C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1961T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*1998T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2111A>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2159T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2168A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*216T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2229C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2234A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2236A>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2296G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*233G>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2368T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2422T>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2495A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2537T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2550G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2581A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*263A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2642T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2749C>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*2918A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*298G>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*3038A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*3050C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*3106T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*3126A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*318G>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*3216C>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*357T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*383A>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*436T>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*446A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*676A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*803A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*813G>C Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*851A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*895C>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*90A>G Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*953G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*956G>T Single submitter peroxisome biogenesis disorder 11A (Zellweger)
c.*962G>A Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala149Gly Single submitter ⚠
p.Ala153Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala160Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala165Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala20Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala219Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala231Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala241= Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ala268Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala285Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala295Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala33Asp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala376Asp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala376Val Single submitter Inborn genetic diseases ⚠
p.Ala390Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ala47Gly Single submitter Inborn genetic diseases ⚠
p.Ala47Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg107Cys Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg109His Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg109Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg127Ser Single submitter Inborn genetic diseases ⚠
p.Arg127Trp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg159Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg159Ser Single submitter ⚠
p.Arg15Cys Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg15His Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg170Gln Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg186Trp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg197Gln Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg294Gln Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Arg311Gly Single submitter Inborn genetic diseases ⚠
p.Arg337Thr Single submitter Inborn genetic diseases ⚠
p.Arg340Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asn101Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asn156Asp Single submitter Inborn genetic diseases ⚠
p.Asn357Lys Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asn69Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp163His Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp163Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp209Tyr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp263His Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp272Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp282Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp297Asn Single submitter Inborn genetic diseases ⚠
p.Asp319His Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Asp371His Single submitter ⚠
p.Cys220Trp Single submitter Inborn genetic diseases ⚠
p.Cys220Tyr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln131His Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln321Arg Single submitter ⚠
p.Gln321Glu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln351Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln351Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln353Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln353Leu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gln373Ter Single submitter
p.Gln45His Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Glu206Asp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Glu260Gln Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Glu280Gln Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Glu289Asp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Glu378Gln Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly104Asp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly128Cys Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly200Asp Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly204Ala Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly204Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly21Glu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly23Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly23Glu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly245Arg Single submitter Inborn genetic diseases ⚠
p.Gly270Ser Single submitter
p.Gly335Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly335Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly363Glu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly395Ala Single submitter Inborn genetic diseases ⚠
p.Gly395Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly398Glu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Gly44Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly81Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Gly99Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.His167Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.His167Asn Single submitter
p.His257Tyr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.His274Arg Single submitter Inborn genetic diseases ⚠
p.Ile188Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ile188Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ile236Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ile243Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ile291Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ile326Met Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ile394Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ile55Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu103Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu210Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu221Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu238Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu249Phe Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu334Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu35Met Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Leu56Phe Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys10Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys10Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys177Glu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys232Asn Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys332Asn Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys347Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys350Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys396Glu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Lys400Met Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Met145Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Met198Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Met198Leu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Met1Val Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Met298Leu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Met298Val Single submitter Inborn genetic diseases ⚠
p.Met40Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe140Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe175Leu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe179Val Single submitter Inborn genetic diseases
p.Phe239Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe240Cys Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe283Val Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Phe293= Single submitter
p.Phe381Cys Single submitter Inborn genetic diseases ⚠
p.Phe381Leu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro11Ala Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro18Leu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro22Leu Single submitter Inborn genetic diseases ⚠
p.Pro22Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro24Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro327Arg Single submitter ⚠
p.Pro327Leu Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Pro358Ala Single submitter ⚠
p.Pro43Ser Single submitter ⚠
p.Pro46Thr Single submitter ⚠
p.Pro59Ser Single submitter ⚠
p.Pro6Gln Single submitter Inborn genetic diseases ⚠
p.Pro7Arg Single submitter ⚠
p.Pro8Leu Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Pro95Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser116Gly Single submitter Inborn genetic diseases ⚠
p.Ser125Asn Single submitter peroxisome biogenesis disorder 11A (Zellweger)
p.Ser135Asn Single submitter Inborn genetic diseases ⚠
p.Ser135Cys Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser144Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser214Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser214Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser258Arg Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser269Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser269Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser32Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser32Tyr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser345Thr Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser346Asn Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser349Phe Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser349Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser354Cys Single submitter ⚠
p.Ser369Tyr Single submitter ⚠
p.Ser3Cys Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser65Cys Single submitter Inborn genetic diseases ⚠
p.Ser65Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser80Phe Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ser97Gly Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Ter404Arg Single submitter
p.Thr150Ala Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr256Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr29Ala Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr29Asn Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr29Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr322Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr323Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr323Pro Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr342Met Single submitter ⚠
p.Thr365Ala Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr384Ser Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr38Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr41Ala Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠
p.Thr41Ile Single submitter peroxisome biogenesis disorder 11A (Zellweger) ⚠