PEX26 — 572 ClinVar variants

All ClinVar germline PEX26 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →

25 Pathogenic · 8 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 35 Conflicting · 32 Benign · 6 Benign/Likely benign · 185 Likely benign · 258 Uncertain significance

Full PEX26 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 201

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.

PEX26 p.Leu103Phe Likely pathogenic Single submitter
peroxisome biogenesis disorder 7A (Zellweger)

Predictors agree, ClinVar conflicts 12

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

PEX26 p.Ala243Val Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg166Gln Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg304His Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg31Trp Conflicting Single submitter
Inborn genetic diseases
PEX26 p.Asn67Ser Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Cys86Arg Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu215Lys Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu44Phe Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu45Pro Conflicting Single submitter
PEX26-related disorder
PEX26 p.Pro33Leu Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Val120Gly Conflicting Single submitter
peroxisome biogenesis disorder 7B
PEX26 p.Val137Leu Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)

Predictors lean, ClinVar uncertain 149

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

PEX26 p.Ala10Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Ala143Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Ala185Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala202Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Ala284Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala41Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg13Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg166Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7B
PEX26 p.Arg191Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg237Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg237His Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Arg26His Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Arg288His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg291Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Arg297Cys Uncertain significance Multiple submitters
PEX26-related disorder
PEX26 p.Arg297His Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Arg304Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Asp36Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gln165Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gln285Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Gln300His Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Glu190Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu209Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Glu40Ala Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7B
PEX26 p.Glu40Asp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu40Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly183Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Gly212Val Uncertain significance Multiple submitters
PEX26-related disorder
PEX26 p.His210Tyr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.His227Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu169Pro Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu221Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu221Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu239Pro Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu250Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Lys218Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro118Ala Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro11Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro233Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro24Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7B
PEX26 p.Ser175Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Ser242Phe Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ser273Ala Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ser84Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Tyr299Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Val267Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Val35Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Val70Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala158Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala158Ser Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Ala158Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala258Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 7B
PEX26 p.Ala259Val Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala27Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala284Thr Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Ala293Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7B
PEX26 p.Ala293Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala30Val Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Ala41Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala69Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala69Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala71Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7B
PEX26 p.Ala75Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala75Val Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala92Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ala92Val Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Arg20Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg20His Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg26Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg26Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg288Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg291Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg302Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 7B
PEX26 p.Arg302Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg302His Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg31Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Arg52Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg52Gly Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Arg60Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Asn150Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Asn152Lys Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Asp241Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Asp305Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Cys58Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gln111His Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gln111Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gln165Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gln285His Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gln63Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 7B
PEX26 p.Glu155Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Glu214Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu222Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Glu72Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu73Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu73Val Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly142Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly16Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly17Arg Uncertain significance Single submitter
PEX26 p.Gly17Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly183Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly188Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly76Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly76Val Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.His200Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.His210Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.His246Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.His278Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.His48Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu121Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu12His Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu12Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu138Met Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu15Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu193Met Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu19Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu286Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu286Val Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu301Phe Uncertain significance Single submitter
PEX26 p.Leu37Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu49Val Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu79Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu79Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Lys207Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Lys253Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Phe229Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Phe248Val Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro118Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro11Ser Uncertain significance Single submitter
PEX26 p.Pro148Ser Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Pro148Thr Uncertain significance Single submitter
PEX26-related disorder
PEX26 p.Pro18Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro18Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro18Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro233Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro29Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro33Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro74Leu Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Ser104Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ser231Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ser255Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 7B
PEX26 p.Ser296Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Thr201Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Thr57Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Val102Ala Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Val112Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Val225Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Val25Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Val88Met Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu189Gly Uncertain significance No assertion criteria
inherited retinal dystrophy

Predictors split 39

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

PEX26 p.Ala177Thr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Arg191Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Cys263Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu80Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7B
PEX26 p.Gly89Arg Pathogenic/Likely pathogenic Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu145Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Lys119Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Lys82Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Phe51Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro118His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro154Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro24Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Ser296Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Val164Met Uncertain significance Multiple submitters
Inborn genetic diseases
PEX26 p.Ala94Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Asp50His Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu59Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Glu95Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly172Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Gly223Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.His163Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Ile125Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu123Pro Conflicting Single submitter
PEX26 p.Leu127Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu196His Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu262Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu262Val Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Leu37Arg Uncertain significance Single submitter
Inborn genetic diseases
PEX26 p.Lys130Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Lys254Met Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Met131Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro113Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro117Leu Conflicting Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro117Ser Uncertain significance Single submitter
PEX26 p.Pro117Thr Likely pathogenic Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro118Arg Conflicting Single submitter
PEX26-related disorder
PEX26 p.Pro134Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Pro251Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)
PEX26 p.Ser249Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 7A (Zellweger)

All PEX26 variants

Pathogenic 25

c.230+1G>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Arg13fs Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Cys86fs Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Gln146Ter Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Gln205fs Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Leu65fs Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.230+1G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala10fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala61fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg52fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln100fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln100Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln165Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Glu133fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Glu72Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu193fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Lys115fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Lys119fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Lys253Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro148fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser242fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser64fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Trp99Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val181Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val25fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)

Pathogenic/Likely pathogenic 8

c.667+2T>C Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Arg192Ter Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Arg98Trp Multiple submitters PEX26-related disorder
p.Gly89Arg Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu12fs Multiple submitters PEX26-related disorder
p.Trp62Ter Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Tyr110fs Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Val120fs Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)

Likely pathogenic 23

c.371+1G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.372-2A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+1del Single submitter
c.668-2A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.814+1G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala71fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Asn150Ile Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Asp194fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Cys263fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln111fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln132Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Glu122Ter Single submitter PEX26-related disorder
p.Leu103Phe Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu121fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu127fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu127Glu Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu174fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu44Pro Single submitter peroxisome biogenesis disorder
p.Pro117Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro24fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Tyr110Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Tyr128Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Tyr156Ter Single submitter peroxisome biogenesis disorder 7A (Zellweger)

Conflicting classifications of pathogenicity 35

c.230+8C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+8A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-5G>T Single submitter peroxisome biogenesis disorder 7B
c.815-10T>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-6C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala186= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala243Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala294= Single submitter peroxisome biogenesis disorder 7B
p.Ala66= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala69= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg166Gln Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg304His Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg31Trp Single submitter Inborn genetic diseases ⚠
p.Asn67Ser Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Asp147= Single submitter peroxisome biogenesis disorder 7B
p.Cys86Arg Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gln108= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Glu215Lys Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly223= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gly76= Single submitter PEX26-related disorder
p.Leu123Pro Single submitter ⚠
p.Leu262= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu265= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu44Phe Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu45Pro Single submitter PEX26-related disorder ⚠
p.Pro117Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro118Arg Single submitter PEX26-related disorder ⚠
p.Pro33Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Tyr109His Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Tyr299fs Single submitter PEX26-related disorder
p.Val106= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val120Gly Single submitter peroxisome biogenesis disorder 7B ⚠
p.Val137Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Val141= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val81= Single submitter peroxisome biogenesis disorder 7A (Zellweger)

Benign 32

c.231-45T>G Multiple submitters
c.371+108C>T Multiple submitters
c.*10C>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*1265T>A Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*1590G>A Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*1635G>C Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*1669C>G Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*167G>A Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*1859A>C Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*2051A>G Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*2281T>C Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*400C>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*464A>G Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*829A>G Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*917C>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*987T>C Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.371+272G>A Single submitter
c.372-12dup Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+204C>T Single submitter
c.814+22del Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1003T>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1283C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1608G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1623G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1778C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1957G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2701G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2878C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*692T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*754A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*943G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*944C>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)

Benign/Likely benign 6

c.815-13C>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.-148C>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.-363G>C Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*2162G>A Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Leu153Val Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Val167= Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)

Likely benign 185

c.372-177C>T Multiple submitters
c.667+20C>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.814+17C>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*2703G>A Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Ala34= Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Asp43= Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.His163= Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Leu127= Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.230+10G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.230+12G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.230+15C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.230+16G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.230+17G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.230+20A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.230+7G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.231-10C>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.231-15T>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.231-15T>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.231-16G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.231-19T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.231-6T>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.371+10_371+12del Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.371+10C>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.371+12T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.371+14G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.371+19C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.371+20dup Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.371+8T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.371+8T>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.372-18G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.372-18G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.372-4G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+10T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+13C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+13C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+15C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+264T>C Single submitter
c.667+8A>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-14G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-15dup Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-16_668-15del Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-16C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-17T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-18C>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-18C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-18C>T Single submitter peroxisome biogenesis disorder 7B
c.668-20T>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-20T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-7T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.668-8C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.814+10G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.814+11G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.814+11G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.814+13G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.814+18_814+19del Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.814+8G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-14C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-19G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-19G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-20A>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-331C>A Single submitter
c.815-4G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-5T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-6del Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.815-7C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*114C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1740C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2311G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*279G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*566T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*925A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala10= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala143= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala149= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala198= Single submitter
p.Ala202= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala243= Single submitter peroxisome biogenesis disorder 7B
p.Ala259= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala30= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala32= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala42= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala54= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala61= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala75= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala92= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg13= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg166= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg203= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg26= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg268= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg288= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg291= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg297= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Arg60= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Asn220= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Asn67= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Asp194= Single submitter
p.Asp50= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Cys58= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln111= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln132= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln146= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln205= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln300= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gln63= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Glu155= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Glu23= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Glu56= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Glu59= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gly16= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gly172= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gly212= Single submitter peroxisome biogenesis disorder 7B
p.Gly89= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.His200= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.His227= Single submitter
p.His68= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ile261= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu116= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu12= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu138= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu145= Single submitter
p.Leu15= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu159= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu168= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu171= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu180= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu19= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu193= Single submitter peroxisome biogenesis disorder 7B
p.Leu230= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu250= Single submitter peroxisome biogenesis disorder 7B
p.Leu280= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu298= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu37= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu38= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu44= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu45= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu49= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu55= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu65= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu79= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu85= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Leu93= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Lys253= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Lys282= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Phe162= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Phe229= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Phe247= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Phe248= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Phe287= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro11= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro117= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro118= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro134= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro148= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro154= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro18= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro18Ala Single submitter
p.Pro233= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro24= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro29= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro33= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Pro74= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser104= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser175= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser21= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser211= Single submitter
p.Ser22= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser242= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser273= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser275= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ser78= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Thr201= Single submitter peroxisome biogenesis disorder 7B
p.Tyr128= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Tyr156= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Tyr299= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val102= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val112= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val120= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val137= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val181= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val25= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val267= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val28= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val35= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val47= Single submitter peroxisome biogenesis disorder 7A (Zellweger)

Uncertain significance 258

c.230+3A>G Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.371+6T>C Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*1194G>A Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*1639G>T Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.*439C>G Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
p.Ala10Val Multiple submitters Inborn genetic diseases ⚠
p.Ala143Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala177Thr Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala185Val Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala202Val Multiple submitters Inborn genetic diseases ⚠
p.Ala284Val Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala41Val Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg13Met Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg166Trp Multiple submitters peroxisome biogenesis disorder 7B ⚠
p.Arg191Gln Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg191Trp Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg237Cys Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg237His Multiple submitters Inborn genetic diseases ⚠
p.Arg26His Multiple submitters Inborn genetic diseases ⚠
p.Arg288His Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg291Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg297Cys Multiple submitters PEX26-related disorder ⚠
p.Arg297His Multiple submitters Inborn genetic diseases ⚠
p.Arg304Cys Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Asp36Gly Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Cys263Ser Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gln165Lys Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gln285Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln300His Multiple submitters Inborn genetic diseases ⚠
p.Glu190Gly Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu209Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu40Ala Multiple submitters peroxisome biogenesis disorder 7B ⚠
p.Glu40Asp Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu40Gly Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu80Val Multiple submitters peroxisome biogenesis disorder 7B ⚠
p.Gly183Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly212Val Multiple submitters PEX26-related disorder ⚠
p.His210Tyr Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.His227Leu Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu145Ile Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu169Pro Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu221Arg Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu221Gln Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu239Pro Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu250Val Multiple submitters Inborn genetic diseases ⚠
p.Lys119Arg Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Lys218Arg Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Lys82Arg Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Phe51Leu Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro118Ala Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro118His Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro11Leu Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro154Leu Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro233Leu Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro24Arg Multiple submitters peroxisome biogenesis disorder 7B ⚠
p.Pro24Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser175Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser242Phe Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ser273Ala Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ser296Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser84Thr Multiple submitters Inborn genetic diseases ⚠
p.Tyr299Cys Multiple submitters Inborn genetic diseases ⚠
p.Val164Met Multiple submitters Inborn genetic diseases ⚠
p.Val267Met Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Val35Met Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Val70Leu Multiple submitters peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Val88Leu Multiple submitters peroxisome biogenesis disorder 7A (Zellweger)
c.230+6T>A Single submitter
c.372-5T>G Single submitter
c.372-9G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.667+3_667+6dup Single submitter
c.668-3C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.814+15C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.-164G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.-167C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.-203G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.-207T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.-375G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.-381C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.-80C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*112C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1136G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*113G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1152G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1156T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1171G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*122A>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*133C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1488T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1493C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1509C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1618G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1627G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1631G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1684T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1720G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1922C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1928A>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*1957G>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2155A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2195A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2282G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2285C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2308A>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2339G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2369C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2370T>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2386C>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2449C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2452G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2479G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2523C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2604G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2647G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2651C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2724G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2768C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*280G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2810G>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*2904T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*36G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*533A>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*568G>A Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*578A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*662C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*802A>G Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*812C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*828C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*829A>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*954T>C Single submitter peroxisome biogenesis disorder 7A (Zellweger)
c.*977C>T Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Ala158Asp Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala158Ser Single submitter Inborn genetic diseases ⚠
p.Ala158Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala186del Single submitter Inborn genetic diseases
p.Ala258Asp Single submitter peroxisome biogenesis disorder 7B ⚠
p.Ala259Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala27Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala284Thr Single submitter Inborn genetic diseases ⚠
p.Ala293Ser Single submitter peroxisome biogenesis disorder 7B ⚠
p.Ala293Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala30Val Single submitter Inborn genetic diseases ⚠
p.Ala41Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala69Pro Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala69Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala71Ser Single submitter peroxisome biogenesis disorder 7B ⚠
p.Ala75Gly Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala75Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala92Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ala92Val Single submitter Inborn genetic diseases ⚠
p.Ala94Gly Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg20Gly Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg20His Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg26Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg26Pro Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg288Cys Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg291Trp Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg302Cys Single submitter peroxisome biogenesis disorder 7B ⚠
p.Arg302Gly Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg302His Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg31Gln Single submitter Inborn genetic diseases ⚠
p.Arg52Gln Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Arg52Gly Single submitter Inborn genetic diseases ⚠
p.Arg60Gln Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Asn150Asp Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Asn152Lys Single submitter Inborn genetic diseases ⚠
p.Asp241Asn Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Asp305Asn Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Asp50His Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Cys58Trp Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gln111His Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gln111Lys Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gln165Arg Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gln285His Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gln63Lys Single submitter peroxisome biogenesis disorder 7B ⚠
p.Glu155Gln Single submitter Inborn genetic diseases ⚠
p.Glu214Gly Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu222Gln Single submitter Inborn genetic diseases ⚠
p.Glu59Lys Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu72Lys Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu73Gln Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu73Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu95Lys Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly142Asp Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly14Arg Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Gly16Glu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly172Ala Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly17Arg Single submitter ⚠
p.Gly17Glu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly183Ser Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly188Ala Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly223Ser Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly76Asp Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Gly76Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.His163Gln Single submitter Inborn genetic diseases ⚠
p.His200Tyr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.His210Arg Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.His246Gln Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.His278fs Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.His278Tyr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.His48Tyr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ile125Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu121Arg Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu127Phe Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu12His Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu12Pro Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu138Met Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu15Phe Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu193Met Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu196His Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu19Pro Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu262Phe Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu262Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu286Pro Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu286Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu301Phe Single submitter ⚠
p.Leu37Arg Single submitter Inborn genetic diseases ⚠
p.Leu37Phe Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu45del Single submitter
p.Leu49Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu79Phe Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Leu79Ser Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Lys130Gln Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Lys207Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Lys253Arg Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Lys254Met Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Met131Ile Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Phe229Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Phe248Val Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro113Ser Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro117Ser Single submitter ⚠
p.Pro118Ser Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro11Ser Single submitter ⚠
p.Pro134Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro148Ser Single submitter Inborn genetic diseases ⚠
p.Pro148Thr Single submitter PEX26-related disorder ⚠
p.Pro18Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro18Ser Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro18Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro233Ser Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro251Ala Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro29Gln Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro33Arg Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Pro74Leu Single submitter Inborn genetic diseases ⚠
p.Ser104Thr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ser231Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ser249Pro Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Ser255Asn Single submitter peroxisome biogenesis disorder 7B ⚠
p.Ser296Tyr Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Thr201Ala Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Thr57Ala Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Val102Ala Single submitter Inborn genetic diseases ⚠
p.Val112Leu Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Val225Ile Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Val244= Single submitter peroxisome biogenesis disorder 7A (Zellweger)
p.Val25Gly Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Val88Met Single submitter peroxisome biogenesis disorder 7A (Zellweger) ⚠
p.Glu189Gly No assertion criteria inherited retinal dystrophy ⚠