Sugi Variant

Sugi Variant/PEX2

PEX2 — 508 ClinVar variants

All ClinVar germline PEX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 194 flagged for review →

31 Pathogenic · 23 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 18 Conflicting · 20 Benign · 3 Benign/Likely benign · 126 Likely benign · 255 Uncertain significance

Full PEX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 194

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 10

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

Predictors lean, ClinVar uncertain 139

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

Predictors split 45

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

All PEX2 variants

Pathogenic 31

  • p.Arg119Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln96Ter Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala107fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala74fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg13fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg13Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg4Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Asn26fs Single submitter peroxisome biogenesis disorder
  • p.Asn7fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys184fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys40fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln159Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln39Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu6fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly133fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile143fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile152fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu123fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu129Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu166Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys9fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe157fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser175fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Thr38fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Trp223Ter Single submitter
  • p.Tyr106Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr190_Met191insTer Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr85Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr95Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Val139fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys247Arg No assertion criteria peroxisome biogenesis disorder 5A (Zellweger)

Pathogenic/Likely pathogenic 23

  • c.-17-2A>G Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala58fs Multiple submitters peroxisome biogenesis disorder 5B
  • p.Arg119fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg125Ter Multiple submitters Zellweger spectrum disorders
  • p.Arg94fs Multiple submitters PEX2-related disorder
  • p.Asn12fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Asn73fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys109fs Multiple submitters Zellweger spectrum disorders
  • p.Gln31Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln78Ter Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu168Ter Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu53Ter Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly113_Arg114insTer Multiple submitters Zellweger spectrum disorders
  • p.Ile104fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile183fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu204fs Multiple submitters Zellweger spectrum disorders
  • p.Leu207fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu48_Leu49insTer Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys27fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Pro209fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Pro91_Asn92insTer Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Trp105Ter Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Trp61Ter Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)

Likely pathogenic 32

  • p.Glu118fs Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.His174fs Multiple submitters Zellweger spectrum disorders
  • p.Phe263fs Multiple submitters Zellweger spectrum disorders
  • p.Arg66fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Asn87fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys244Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys247fs Single submitter peroxisome biogenesis disorder 5B
  • p.Cys247Tyr Single submitter
  • p.Cys264fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys283fs Single submitter Zellweger spectrum disorders
  • p.Gln102Ter Single submitter Zellweger spectrum disorders
  • p.Gln214Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu55Lys Single submitter peroxisome biogenesis disorder
  • p.Gly149fs Single submitter Zellweger spectrum disorders
  • p.Leu166fs Single submitter Zellweger spectrum disorders
  • p.Lys136fs Single submitter Zellweger spectrum disorders
  • p.Lys215fs Single submitter peroxisome biogenesis disorder 5B
  • p.Phe132fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe163fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe278fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Pro226fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser131Ter Single submitter Zellweger spectrum disorders
  • p.Ser270Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser289fs Single submitter Zellweger spectrum disorders
  • p.Ser79fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser99fs Single submitter Zellweger spectrum disorders
  • p.Trp65fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr190Ter Single submitter peroxisome biogenesis disorder 5B
  • p.Tyr277Ter Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr85fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu168fs No assertion criteria peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu158fs No assertion criteria peroxisome biogenesis disorder 5B

Conflicting classifications of pathogenicity 18

  • c.*1174A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg193= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg94Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn212Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asp275= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln31Glu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Glu298Lys Single submitter peroxisome biogenesis disorder 5B ⚠
  • p.Gly149= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly241Val Single submitter Inborn genetic diseases ⚠
  • p.His261Arg Single submitter Zellweger spectrum disorders ⚠
  • p.Ser175Cys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ser222= Single submitter peroxisome biogenesis disorder 5B
  • p.Ser233Asn Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ser90Phe Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Trp250Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Tyr265= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr70Cys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Val135Ala Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠

Benign 20

  • c.-164C>A Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1194A>G Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1601T>A Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1696C>T Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1909G>T Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2142A>G Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2338C>T Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2377A>G Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2663T>A Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*458G>A Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*727T>C Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala245Thr Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys184= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys184Arg Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.-13del Single submitter
  • c.*1141G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1242A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2306A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2446C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2554G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)

Benign/Likely benign 3

  • c.-17-41G>T Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1040C>G Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln159= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)

Likely benign 126

  • c.*137C>G Multiple submitters
  • c.*1765G>A Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*319A>G Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala245= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala74= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys244= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln96= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu15= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser240= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser79= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr190= Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • c.*103C>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1448C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1842G>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2004C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*233C>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2443A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*789C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala11= Single submitter
  • p.Ala2= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala201= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala22= Single submitter
  • p.Ala238= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala304= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala50= Single submitter
  • p.Ala58= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala8= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg114= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg119= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg125= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg160Lys Single submitter Inborn genetic diseases
  • p.Arg169= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg4= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Arg66= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Asn7= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Asp21= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys109= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys178= Single submitter
  • p.Cys40= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln19= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln214= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln36= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gln78= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu117= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu185= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu189= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu202= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu24= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu243= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu286= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu30= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu6= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly113= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly133= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly150= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly284= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly43= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly77= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.His127= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.His128= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.His198= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.His255= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.His261= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.His288= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.His42= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile104= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile143= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile211= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile257= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile297= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile69= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu116= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu123= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu146= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu151= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu155= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu171= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu195= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu207= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu227= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu23= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu246= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu25= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu290= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu32= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu48= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu49= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu64= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys134= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys219= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys242= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys294= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys5= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys57= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Lys84= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe163= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe200= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe266= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe278= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe37= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe41= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe44= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Phe67= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Pro209= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Pro226= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Pro231= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Pro281= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Pro54= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser131= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser18= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser295= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser35= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Thr165= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Thr236= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Thr239= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Thr252= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Thr256= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Thr285= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Thr38= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr277= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr95= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Val108= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Val135= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Val213= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Val276= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.-10C>T No assertion criteria PEX2-related disorder

Uncertain significance 255

  • p.Ala8Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg125Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg169His Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg51Cys Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg51His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn7His Multiple submitters Inborn genetic diseases ⚠
  • p.Cys184Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln102Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln39Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu202Asp Multiple submitters peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly161Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly229Arg Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gly248Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly47Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly47Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly47Glu Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.His288Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile111Val Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ile152Met Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ile156Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile173Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile211Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile225Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile257Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile69Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu146Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Leu207Val Multiple submitters PEX2-related disorder ⚠
  • p.Leu220Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu290Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu48Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Phe203Leu Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Thr38Ala Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Trp34Ser Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Trp65Cys Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Tyr121His Multiple submitters Inborn genetic diseases ⚠
  • p.Val108Leu Multiple submitters peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Val276Leu Multiple submitters Inborn genetic diseases ⚠
  • c.-178C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.-183G>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1012C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1047T>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1085T>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1319A>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1331T>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1370A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1400A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1561G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1581T>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1602A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1606T>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1716A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1749A>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1755A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1808C>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1811C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1854A>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*1858G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2007A>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2057G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2294C>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2404A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2430T>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2456C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2466A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2518C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2519G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2700G>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2787G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2894T>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*2973T>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*324G>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*37C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*394T>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*40G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*419T>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*437T>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*489C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*498G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*595C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*596G>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*627G>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*645G>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*659C>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*705T>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*773T>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*780T>A Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*819A>C Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*913C>T Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • c.*91A>G Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ala107Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala11Glu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala130Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala201Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala201Val Single submitter Inborn genetic diseases ⚠
  • p.Ala22Val Single submitter ⚠
  • p.Ala230Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala245Pro Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala28Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala2Asp Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala304Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala50Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala58Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala74Gly Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala74Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala8Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg119Gln Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg125Gly Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg169Cys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg169Gly Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg169Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg193Gly Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg51Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Arg94Gly Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn126Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn140Lys Single submitter ⚠
  • p.Asn192Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn232Asp Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn235Asp Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn235Lys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn26Asp Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn26del Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Asn26His Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn26Lys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asn92Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asp122Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asp21Gly Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Asp88Gly Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Cys138Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Cys184His Single submitter peroxisome biogenesis disorder 5B
  • p.Cys184Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Cys184Phe Single submitter ⚠
  • p.Cys224Tyr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gln102His Single submitter Inborn genetic diseases ⚠
  • p.Gln137Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gln214Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gln31Pro Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Glu118del Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Glu202Gln Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Glu301Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu6Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu6Gln Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gly112Ala Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gly161= Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Gly161Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gly199Ala Single submitter ⚠
  • p.Gly199Asp Single submitter ⚠
  • p.Gly229Asp Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gly248Glu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gly258Ala Single submitter ⚠
  • p.Gly258Glu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Gly284Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile104Met Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ile143Met Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ile205Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ile211Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile262Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ile297Met Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ile69Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ile83Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ile83Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu123Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu151Pro Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu155Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu15Pro Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu166Trp Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu195Pro Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu210Phe Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu23Phe Single submitter ⚠
  • p.Leu246Pro Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Leu246Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu48Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu64Met Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Leu93Pro Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Lys100Glu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Lys162Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys215Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys219Asn Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Lys282Glu Single submitter ⚠
  • p.Lys294Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Lys86Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Lys9Arg Single submitter Inborn genetic diseases ⚠
  • p.Met191Ile Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Met191Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Met253Val Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Met299Ile Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Phe124Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe154Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Phe157Val Single submitter ⚠
  • p.Phe163Cys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Phe203Cys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Phe37Ile Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Phe41Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Phe41Tyr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Phe89Ile Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Pro209Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro251Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Pro251Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Pro292Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Pro54Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ser233Ile Single submitter Inborn genetic diseases ⚠
  • p.Ser240Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ser270Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ser271Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser289Asn Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ser289Gly Single submitter ⚠
  • p.Ser295Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ser35Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser90Thr Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ser99Asn Single submitter Inborn genetic diseases ⚠
  • p.Ter306Ser Single submitter
  • p.Thr165Asn Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Thr167Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Thr167Ile Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Thr239Ile Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Thr239Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Thr256Ala Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Thr285Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Trp115Ser Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Trp250Gly Single submitter ⚠
  • p.Trp61Arg Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr121Cys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Tyr265Cys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Tyr265fs Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Tyr277Cys Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Tyr85Phe Single submitter ⚠
  • p.Val139Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Val176Ile Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Val213Leu Single submitter Inborn genetic diseases ⚠
  • p.Val302Ile Single submitter Zellweger spectrum disorders ⚠
  • p.Val56Met Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Val76Leu Single submitter peroxisome biogenesis disorder 5A (Zellweger)
  • p.Val80Ile Single submitter peroxisome biogenesis disorder 5A (Zellweger) ⚠
  • p.Ala107Asp No assertion criteria peroxisome biogenesis disorder 5B ⚠
  • p.Asn101Ser No assertion criteria Zellweger spectrum disorders ⚠
  • p.Asn232Ile No assertion criteria Zellweger spectrum disorders ⚠
  • p.Asp234_Thr236delinsAla No assertion criteria peroxisome biogenesis disorder 5B
  • p.Cys280Ser No assertion criteria Zellweger spectrum disorders ⚠
  • p.Gln31= No assertion criteria Zellweger spectrum disorders
  • p.Glu286del No assertion criteria peroxisome biogenesis disorder 5B
  • p.Gly113Asp No assertion criteria PEX2-related disorder
  • p.Gly296Arg No assertion criteria Zellweger spectrum disorders ⚠
  • p.His128Leu No assertion criteria Zellweger spectrum disorders ⚠
  • p.His255Tyr No assertion criteria Zellweger spectrum disorders ⚠
  • p.Ile205Met No assertion criteria Zellweger spectrum disorders ⚠
  • p.Leu151Val No assertion criteria Zellweger spectrum disorders ⚠
  • p.Leu29= No assertion criteria Zellweger spectrum disorders
  • p.Leu305= No assertion criteria Zellweger spectrum disorders
  • p.Lys57Arg No assertion criteria Zellweger spectrum disorders ⚠
  • p.Phe132Ser No assertion criteria Zellweger spectrum disorders ⚠
  • p.Phe157Cys No assertion criteria Zellweger spectrum disorders ⚠
  • p.Pro180Leu No assertion criteria Zellweger spectrum disorders ⚠
  • p.Ser18Arg No assertion criteria Zellweger spectrum disorders ⚠
  • p.Ser18Asn No assertion criteria Zellweger spectrum disorders ⚠
  • p.Ser295Ter No assertion criteria peroxisome biogenesis disorder 5A (Zellweger)
  • p.Ter306Gln No assertion criteria peroxisome biogenesis disorder 5A (Zellweger)