Sugi Variant

Sugi Variant/PEX12

PEX12 — 533 ClinVar variants

All ClinVar germline PEX12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →

58 Pathogenic · 31 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 15 Conflicting · 13 Benign · 3 Benign/Likely benign · 159 Likely benign · 230 Uncertain significance

Full PEX12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 177

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 6

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

Predictors lean, ClinVar uncertain 127

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

Predictors split 44

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

All PEX12 variants

Pathogenic 58

  • p.Arg180Ter Multiple submitters PEX12-related disorder
  • p.Asn291_Ser292insTer Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln209Ter Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu296fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu297fs Multiple submitters Autosomal recessive PEX12-related disorders
  • c.126+1G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.126+1G>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.126+2T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680_680+12del Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680_680+1delinsCA Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala11fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala158fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala162fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala2fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg102fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asn233fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asp262fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asp96fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln17Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln223fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln259Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln26Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln270Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu347fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly242fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly88fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.His39fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.His51fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile117fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile20_Phe21insTer Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile273fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu247fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu258fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu297Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu29Ter Single submitter
  • p.Leu75fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys127Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys153fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys299Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys90fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Phe8fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro215fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser190Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser19fs Single submitter
  • p.Ser28_Leu29insTer Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr204fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr277fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Trp114Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Trp152Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Trp58fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr265Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr322fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Val41fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg91Ser No assertion criteria Peroxisomal biogenesis disorder 3b
  • p.Leu103fs No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys231Ter No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Phe256fs No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr9fs No assertion criteria Peroxisomal biogenesis disorder 3b

Pathogenic/Likely pathogenic 31

  • c.126+1G>T Multiple submitters PEX12-related disorder
  • c.680+1G>A Multiple submitters peroxisome biogenesis disorder type 3B
  • p.Arg154Ter Multiple submitters PEX12-related disorder
  • p.Arg202Ter Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Cys304fs Multiple submitters PEX12-related disorder
  • p.Cys307fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln111Ter Multiple submitters PEX12-related disorder
  • p.Gln112Ter Multiple submitters PEX12-related disorder
  • p.Gln178del Multiple submitters peroxisome biogenesis disorder
  • p.Gln17fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln26delinsArgTer Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln270fs Multiple submitters peroxisome biogenesis disorder type 3B
  • p.Gln337Ter Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln349del Multiple submitters PEX12-related disorder
  • p.Gln71Ter Multiple submitters peroxisome biogenesis disorder type 3B
  • p.Glu171fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly321fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu192fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu245fs Multiple submitters PEX12-related disorder
  • p.Lys299_Met300insTer Multiple submitters peroxisome biogenesis disorder type 3B
  • p.Phe324fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser229fs Multiple submitters PEX12-related disorder
  • p.Ser320Phe Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser47Ter Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr281fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Trp173Ter Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Trp263Ter Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr181fs Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr181Ter Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr74Ter Multiple submitters peroxisome biogenesis disorder type 3B
  • p.Tyr87Ter Multiple submitters PEX12-related disorder

Likely pathogenic 24

  • p.Met1Val Multiple submitters PEX12-related disorder
  • c.678_680+1delinsAAGT Single submitter peroxisome biogenesis disorder type 3B
  • p.Ala196Pro Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asp293fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln101fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln111fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln206Ter Single submitter
  • p.Gln222Ter Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu120fs Single submitter PEX12-related disorder
  • p.Leu122fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu236fs Single submitter peroxisome biogenesis disorder type 3B
  • p.Leu306fs Single submitter peroxisome biogenesis disorder type 3B
  • p.Met1_Ala2insTer Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro285Ser Single submitter ⚠
  • p.Pro305fs Single submitter peroxisome biogenesis disorder type 3B
  • p.Ser149fs Single submitter peroxisome biogenesis disorder
  • p.Thr249fs Single submitter PEX12-related disorder
  • p.Tyr74fs Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.126+2T>A No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Met1fs No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Met30fs No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr64fs No assertion criteria peroxisome biogenesis disorder type 3B
  • p.Tyr143_Ser144delinsTer No assertion criteria peroxisome biogenesis disorder type 3B
  • p.Tyr326Ter No assertion criteria peroxisome biogenesis disorder type 3B

Conflicting classifications of pathogenicity 15

  • c.681-2A>C Single submitter peroxisome biogenesis disorder type 3B
  • p.Ala14Asp Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg151Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg151His Single submitter Inborn genetic diseases ⚠
  • p.Arg334= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln199= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu212Gly Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly241Val Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly95= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.His98Gln Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu123del Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Phe330fs Single submitter peroxisome biogenesis disorder
  • p.Ser190= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser28= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu317Phe No assertion criteria peroxisome biogenesis disorder 3A (Zellweger) ⚠

Benign 13

  • c.-428T>C Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • c.-534C>T Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • c.*166C>A Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • c.*517A>G Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • c.*836G>C Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asp289= Multiple submitters peroxisome biogenesis disorder type 3B
  • c.680+171T>C Single submitter
  • c.681-276_681-274dup Single submitter
  • c.681-307del Single submitter
  • c.681-30C>T Single submitter
  • c.*297T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*636T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*781T>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)

Benign/Likely benign 3

  • c.681-3_681-2del Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg34Ser Multiple submitters peroxisome biogenesis disorder type 3B
  • p.Leu245Ile Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)

Likely benign 159

  • c.126+123A>C Multiple submitters
  • p.Gln222= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln72= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu22= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu130= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu137= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu288= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu354= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Phe63= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro164= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser149= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser150= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr181= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr52= Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • c.126+17T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.126+18G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.126+20A>C Single submitter
  • c.126+8A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.127-11_127-2del Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.127-12A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.127-16C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.127-19T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.127-20A>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.127-6C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.127-7G>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680+10T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680+11A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680+12A>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680+18C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680+19C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680+26T>C Single submitter
  • c.680+8C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.681-11T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.681-15_681-13del Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.681-15C>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.681-21_681-19del Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.681-321dup Single submitter
  • c.681-5A>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*509T>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala10= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala104= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala11= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala14= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala158= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala161= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala162= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala169= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala2= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala225= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala235= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala25= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala278= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala338= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala6= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg138= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg154= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg180= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg194= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg202= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg311= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Arg91= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asn233= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asn313= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asn85= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asp96= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Cys304= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Cys307= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln17= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln223= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln259= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln38= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu140= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu268= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu3= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu46= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu84= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly107= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly201= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly241= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly321= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.His188= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.His189= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.His287= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.His336= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile117= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile20= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile208= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile273= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile62= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile92= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu103= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu108= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu120= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu133= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu183= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu192= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu193= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu195= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu211= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu236= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu261= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu276= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu296= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu351= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu55= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu65= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu69= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu70= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu75= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys115= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys132= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys231= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys238= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Phe165= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Phe324= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Phe86= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro124= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro18= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro191= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro215= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro282= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro283= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro295= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro305= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro340= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Pro35= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser105= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser116= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser136= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser248= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser356= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr272= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr277= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr302= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr31= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr315= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr319= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr346= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr50= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr64= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr9= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr97= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr125= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr163= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr265= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr322= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr326= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr344= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr355= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr87= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Val166= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Val228= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Val23= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Val255= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Val312= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Val323= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Val329= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680+6G>A No assertion criteria PEX12-related disorder
  • c.-5A>G No assertion criteria PEX12-related disorder

Uncertain significance 230

  • c.-26G>A Multiple submitters peroxisome biogenesis disorder type 3B
  • p.Ala25Pro Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ala338Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala36Pro Multiple submitters peroxisome biogenesis disorder type 3B ⚠
  • p.Arg102Ser Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg311Gln Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg311Trp Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asn291Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp15Asn Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Asp16Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Glu131_Leu133del Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu139Lys Multiple submitters Inborn genetic diseases
  • p.Glu3Gly Multiple submitters Inborn genetic diseases
  • p.Glu61_Ile62insLys Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly242Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly88Ala Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His39Gln Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ile117Val Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ile145Met Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ile341Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile341Val Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu203Pro Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu247Val Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu297Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys301Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys99Glu Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Met118Thr Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Met118Val Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro35Thr Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser219Gly Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser246Tyr Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser79Arg Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser79Thr Multiple submitters peroxisome biogenesis disorder 3A (Zellweger)
  • p.Thr302Ile Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Thr64Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Trp56Arg Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Tyr265His Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val253Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val255Ile Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val286Ala Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val286Ile Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val303Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val316Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Val333Leu Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val348Ile Multiple submitters peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • c.126+3A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.126+6G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.127-3T>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.680+3A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-108A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-138T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-145C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-147C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-340G>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-358G>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-360G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-405C>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-427G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-434A>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.-495C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*109A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*380G>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*38C>T Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*39G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*411A>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*433T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*474A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*519A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*520A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*532A>G Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*569T>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*708G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*778G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*783A>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*922T>C Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • c.*923G>A Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ala10Val Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ala162Gly Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ala169Thr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ala210Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala210Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ala32Thr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ala36Ile Single submitter peroxisome biogenesis disorder type 3B
  • p.Ala6Thr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ala80Thr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ala80Val Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg102Thr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg138Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg138Ile Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg154Gln Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg180Gln Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg180Gly Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg226Gly Single submitter ⚠
  • p.Arg308Cys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg308His Single submitter Inborn genetic diseases ⚠
  • p.Arg327Cys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg327His Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg34Lys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Arg91Thr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Asn313Lys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Asn48Ile Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Asp141Asn Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Asp141Gly Single submitter ⚠
  • p.Asp15Ala Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Asp262_Trp263delinsGly Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asp289_Tyr290del Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asp293Asn Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Asp314His Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Asp67Gly Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gln101Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gln101Glu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gln112Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gln177= Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gln17His Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gln206Lys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gln71Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu131_Ser136dup Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu131Lys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Glu139Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu142Lys Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Glu230Lys Single submitter ⚠
  • p.Glu271Lys Single submitter ⚠
  • p.Glu3Asp Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly107Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Gly172Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly184Glu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly201Cys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly254Ala Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly254Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly343Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Gly5Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His146Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His146Gln Single submitter ⚠
  • p.His189Tyr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His287Leu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His336Gln Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His336Tyr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His350Gln Single submitter Inborn genetic diseases ⚠
  • p.His39Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His73Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.His7Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.His7Gln Single submitter Inborn genetic diseases ⚠
  • p.Ile117Leu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ile182Leu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ile182Met Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ile208Val Single submitter Inborn genetic diseases ⚠
  • p.Ile20Thr Single submitter ⚠
  • p.Ile341Asn Single submitter ⚠
  • p.Leu108Phe Single submitter
  • p.Leu133Gln Single submitter ⚠
  • p.Leu133Pro Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu175Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu179Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu195Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu200Pro Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu245Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu247Pro Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu261Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu276Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu296Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu296Val Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu354Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu354Val Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu68His Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Leu70del Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys214Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Lys274Asn Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Lys42Gln Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Lys90Thr Single submitter Inborn genetic diseases ⚠
  • p.Met118Ile Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Met221Val Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Met300Thr Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Phe257del Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Phe82Cys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Phe82Leu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro147= Single submitter
  • p.Pro148Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro18Leu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro191Thr Single submitter peroxisome biogenesis disorder type 3B ⚠
  • p.Pro224Arg Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro280Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro280His Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro282Ala Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro282Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro283Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro298Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro305Ala Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro305Ser Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Pro49Ala Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser100Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser144Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser150Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser19Pro Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser227Asn Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser267Pro Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser28Asn Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Ser335Arg Single submitter PEX12-related disorder ⚠
  • p.Ser356Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Thr204dup Single submitter
  • p.Thr249Ala Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Thr277Ile Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Thr315Asn Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Thr342Ala Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Thr342Ile Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Thr78Ile Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Trp152Cys Single submitter
  • p.Trp263Cys Single submitter Inborn genetic diseases ⚠
  • p.Trp58Cys Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Tyr125His Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Tyr125Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Tyr143Cys Single submitter peroxisome biogenesis disorder 3A (Zellweger)
  • p.Tyr181His Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Tyr326Asn Single submitter Inborn genetic diseases ⚠
  • p.Tyr52Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr74His Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val121Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val128Met Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val176Ile Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val243Ile Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val243Phe Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val303Ala Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val316Leu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val323Leu Single submitter peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Val93Ile Single submitter Inborn genetic diseases ⚠
  • p.His7_Ala14del No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Leu179fs No assertion criteria
  • p.Pro357fs No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Ser144Pro No assertion criteria peroxisome biogenesis disorder 3A (Zellweger) ⚠
  • p.Thr342fs No assertion criteria peroxisome biogenesis disorder 3A (Zellweger)
  • p.Trp264Arg No assertion criteria PEX12-related disorder ⚠