PEX3 — 426 ClinVar variants
All ClinVar germline PEX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →
18 Pathogenic · 3 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 14 Conflicting · 26 Benign · 7 Benign/Likely benign · 160 Likely benign · 180 Uncertain significance
Full PEX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 134
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- PEX3 p.Arg130Gln Conflicting Single submitter
-
PEX3 p.Asn265Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PEX3 p.Gly138Arg
Conflicting
Single submitter
peroxisome biogenesis disorder 1A (Zellweger)
-
PEX3 p.Pro158Arg
Conflicting
Single submitter
peroxisome biogenesis disorder 10A (Zellweger)
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PEX3 p.Arg300Gln
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 10A (Zellweger)
-
PEX3 p.Arg54Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PEX3 p.Asn61Lys Uncertain significance Multiple submitters
-
PEX3 p.Asn66Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PEX3 p.Asn85Ser Uncertain significance Multiple submitters
-
PEX3 p.Asp159Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX3 p.Asp228Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX3 p.Asp305Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX3 p.Gly252Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PEX3 p.Gly30Arg Uncertain significance Multiple submitters
-
PEX3 p.His343Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PEX3 p.Ile136Ser Uncertain significance Multiple submitters
- PEX3 p.Ile325Met Uncertain significance Multiple submitters
-
PEX3 p.Met351Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PEX3 p.Thr367Ile Uncertain significance Multiple submitters
-
PEX3 p.Tyr139Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX3 p.Val182Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX3 p.Val216Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PEX3 p.Ala145Val Uncertain significance Single submitter
- PEX3 p.Ala250Ser Uncertain significance Single submitter
-
PEX3 p.Ala45Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Ala79Thr Uncertain significance Single submitter
- PEX3 p.Arg114Gly Uncertain significance Single submitter
- PEX3 p.Arg114Ile Uncertain significance Single submitter
- PEX3 p.Arg286Gln Uncertain significance Single submitter
-
PEX3 p.Arg53Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX3 p.Asn226Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Asn281Asp Uncertain significance Single submitter
- PEX3 p.Asn281Ser Uncertain significance Single submitter
- PEX3 p.Asn281Tyr Uncertain significance Single submitter
-
PEX3 p.Asn294Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Asn310Asp Uncertain significance Single submitter
- PEX3 p.Asn360Asp Uncertain significance Single submitter
- PEX3 p.Asn7Ser Uncertain significance Single submitter
- PEX3 p.Asp204Gly Uncertain significance Single submitter
- PEX3 p.Asp293His Uncertain significance Single submitter
- PEX3 p.Asp305Gly Uncertain significance Single submitter
- PEX3 p.Cys251Tyr Uncertain significance Single submitter
-
PEX3 p.Gln185Lys
Uncertain significance
Single submitter
peroxisome biogenesis disorder 10A (Zellweger)
- PEX3 p.Gln188Arg Uncertain significance Single submitter
- PEX3 p.Gln304His Uncertain significance Single submitter
- PEX3 p.Gln55Pro Uncertain significance Single submitter
- PEX3 p.Glu266Lys Uncertain significance Single submitter
- PEX3 p.Glu372Lys Uncertain significance Single submitter
- PEX3 p.Glu87Lys Uncertain significance Single submitter
- PEX3 p.Gly151Ser Uncertain significance Single submitter
-
PEX3 p.Gly229Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Gly24Arg Uncertain significance Single submitter
- PEX3 p.Gly25Glu Uncertain significance Single submitter
- PEX3 p.Gly287Val Uncertain significance Single submitter
- PEX3 p.His308Leu Uncertain significance Single submitter
- PEX3 p.His334Leu Uncertain significance Single submitter
- PEX3 p.His334Tyr Uncertain significance Single submitter
- PEX3 p.His57Arg Uncertain significance Single submitter
- PEX3 p.Ile109Val Uncertain significance Single submitter
- PEX3 p.Ile49Val Uncertain significance Single submitter
-
PEX3 p.Leu128Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Leu171Ile Uncertain significance Single submitter
- PEX3 p.Leu179Phe Uncertain significance Single submitter
- PEX3 p.Leu200Met Uncertain significance Single submitter
- PEX3 p.Leu202Val Uncertain significance Single submitter
- PEX3 p.Leu205Phe Uncertain significance Single submitter
- PEX3 p.Leu284Val Uncertain significance Single submitter
- PEX3 p.Leu9Gln Uncertain significance Single submitter
- PEX3 p.Lys10Gln Uncertain significance Single submitter
-
PEX3 p.Lys149Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Lys184Glu Uncertain significance Single submitter
- PEX3 p.Met238Val Uncertain significance Single submitter
- PEX3 p.Met295Thr Uncertain significance Single submitter
- PEX3 p.Met312Val Uncertain significance Single submitter
- PEX3 p.Met351Ile Uncertain significance Single submitter
-
PEX3 p.Pro158Ala
Uncertain significance
Single submitter
peroxisome biogenesis disorder 10A (Zellweger)
- PEX3 p.Pro158Ser Uncertain significance Single submitter
- PEX3 p.Pro255Ser Uncertain significance Single submitter
- PEX3 p.Pro74Ala Uncertain significance Single submitter
-
PEX3 p.Ser111Ile
Uncertain significance
Single submitter
peroxisome biogenesis disorder 10A (Zellweger)
- PEX3 p.Ser167Gly Uncertain significance Single submitter
- PEX3 p.Ser201Ala Uncertain significance Single submitter
- PEX3 p.Ser201Thr Uncertain significance Single submitter
- PEX3 p.Ser273Arg Uncertain significance Single submitter
- PEX3 p.Ser338Gly Uncertain significance Single submitter
- PEX3 p.Ser71Phe Uncertain significance Single submitter
- PEX3 p.Thr113Ile Uncertain significance Single submitter
- PEX3 p.Thr116Ala Uncertain significance Single submitter
- PEX3 p.Thr152Ser Uncertain significance Single submitter
-
PEX3 p.Thr153Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Thr177Ala Uncertain significance Single submitter
- PEX3 p.Thr21Met Uncertain significance Single submitter
-
PEX3 p.Thr260Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Thr260Ser Uncertain significance Single submitter
-
PEX3 p.Thr302Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX3 p.Thr64Pro
Uncertain significance
Single submitter
peroxisome biogenesis disorder 1A (Zellweger)
-
PEX3 p.Trp6Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 10B
- PEX3 p.Val131Phe Uncertain significance Single submitter
- PEX3 p.Val216Ala Uncertain significance Single submitter
- PEX3 p.Val26Ile Uncertain significance Single submitter
- PEX3 p.Val318Gly Uncertain significance Single submitter
- PEX3 p.Val329Ile Uncertain significance Single submitter
- PEX3 p.Val69Gly Uncertain significance Single submitter
-
PEX3 p.Val69Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Gln62Lys Uncertain significance No assertion criteria
Predictors split 29
The independent predictors disagree with each other — read with care.
-
PEX3 p.Ala358Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX3 p.Glu266Asp
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 10A (Zellweger)
-
PEX3 p.Glu44Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX3 p.Met270Ile
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 10A (Zellweger)
-
PEX3 p.Ala296Val
Uncertain significance
Single submitter
peroxisome biogenesis disorder 10A (Zellweger)
-
PEX3 p.Ala359Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Ala364Val Uncertain significance Single submitter
- PEX3 p.Arg300Pro Uncertain significance Single submitter
- PEX3 p.Arg53Gln Uncertain significance Single submitter
- PEX3 p.Asn330Asp Uncertain significance Single submitter
- PEX3 p.Asn99Asp Uncertain significance Single submitter
- PEX3 p.Asp293Gly Uncertain significance Single submitter
- PEX3 p.Gln132His Uncertain significance Single submitter
- PEX3 p.Gly173Arg Uncertain significance Single submitter
-
PEX3 p.Gly331Arg
Conflicting
Single submitter
PEX3-related disorder
- PEX3 p.His170Gln Uncertain significance Single submitter
- PEX3 p.Ile328Thr Uncertain significance Single submitter
- PEX3 p.Leu196Phe Uncertain significance Single submitter
- PEX3 p.Leu80Phe Uncertain significance Single submitter
- PEX3 p.Met124Ile Uncertain significance Single submitter
- PEX3 p.Met124Thr Uncertain significance Single submitter
-
PEX3 p.Met270Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX3 p.Phe276Cys Uncertain significance Single submitter
- PEX3 p.Phe298Leu Uncertain significance Single submitter
- PEX3 p.Ser167Asn Uncertain significance Single submitter
-
PEX3 p.Thr282Pro
Likely pathogenic
Single submitter
peroxisome biogenesis disorder 10A (Zellweger)
-
PEX3 p.Thr350Pro
Uncertain significance
Single submitter
peroxisome biogenesis disorder 10A (Zellweger)
- PEX3 p.Val131Ala Uncertain significance Single submitter
-
PEX3 p.Ser273Asn
Uncertain significance
No assertion criteria
PEX3-related disorder
All PEX3 variants
Pathogenic 18
- p.Arg286Ter Multiple submitters
- p.Trp6Ter Multiple submitters peroxisome biogenesis disorder
- c.331+2_331+5del Single submitter
- c.942-8T>G Single submitter peroxisome biogenesis disorder 1A (Zellweger)
- p.Arg53Ter Single submitter
- p.Arg54Ter Single submitter
- p.Asn95fs Single submitter
- p.Gln249Ter Single submitter
- p.Glu39fs Single submitter
- p.Leu165Ter Single submitter
- p.Leu234fs Single submitter
- p.Leu76fs Single submitter
- p.Met270fs Single submitter
- p.Phe288fs Single submitter
- p.Pro245_Leu246insTer Single submitter
- p.Tyr120Ter Single submitter
- p.Val69fs Single submitter
- p.Arg300Ter No assertion criteria peroxisome biogenesis disorder 10B
Pathogenic/Likely pathogenic 3
- c.288-1G>A Multiple submitters peroxisome biogenesis disorder 10A (Zellweger)
- p.Arg256Ter Multiple submitters PEX3-related disorder
- p.Ser98fs Multiple submitters peroxisome biogenesis disorder 10A (Zellweger)
Likely pathogenic 18
- c.942-1G>T Multiple submitters PEX3-related disorder
- c.206-2A>G Single submitter
- c.331+1G>C Single submitter peroxisome biogenesis disorder
- c.332-1G>A Single submitter
- c.332-2A>G Single submitter
- c.456+1G>A Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.523+1G>A Single submitter
- c.579-1G>A Single submitter PEX3-related disorder
- c.818+1G>A Single submitter
- p.Asp347Tyr Single submitter peroxisome biogenesis disorder
- p.Glu44Ter Single submitter
- p.Gly229Ter Single submitter peroxisome biogenesis disorder
- p.Gly25Val Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Met1fs Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Met81fs Single submitter PEX3-related disorder
- p.Pro158fs Single submitter PEX3-related disorder
- p.Thr282Pro Single submitter peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Tyr48Ter Single submitter peroxisome biogenesis disorder 10A (Zellweger)
Conflicting classifications of pathogenicity 14
- c.332-9T>A Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.456+3A>G Single submitter
- c.578+8A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.748-4A>G Single submitter
- c.*220G>A Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Arg130Gln Single submitter ⚠
- p.Asn265Ser Single submitter Inborn genetic diseases ⚠
- p.Gln55= Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Gln83= Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Gly138Arg Single submitter peroxisome biogenesis disorder 1A (Zellweger) ⚠
- p.Gly331Arg Single submitter PEX3-related disorder ⚠
- p.Ile17= Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Pro158Arg Single submitter peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Tyr32= Single submitter peroxisome biogenesis disorder 10A (Zellweger)
Benign 26
- c.206-14del Multiple submitters peroxisome biogenesis disorder 10B
- c.332-20C>G Multiple submitters
- c.523+20C>T Multiple submitters
- c.524-19T>C Multiple submitters peroxisome biogenesis disorder 10B
- c.942-13A>G Multiple submitters peroxisome biogenesis disorder 10A (Zellweger)
- c.1038+166G>A Single submitter
- c.1039-287C>G Single submitter
- c.205+302A>G Single submitter
- c.206-101T>C Single submitter
- c.288-219G>A Single submitter
- c.288-78A>T Single submitter
- c.331+278A>T Single submitter
- c.457-101A>G Single submitter
- c.578+178_578+179del Single submitter
- c.579-142G>A Single submitter
- c.73+59C>T Single submitter
- c.74-252A>G Single submitter
- c.747+183C>T Single submitter
- c.747+196del Single submitter
- c.748-263A>G Single submitter
- c.818+206A>G Single submitter
- c.818+268G>C Single submitter
- c.941+192G>A Single submitter
- c.-197T>C Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*319A>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*546A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
Benign/Likely benign 7
- c.287+14dup Multiple submitters
- c.332-16dup Multiple submitters
- c.-4A>G Multiple submitters peroxisome biogenesis disorder 10A (Zellweger)
- c.*205C>A Multiple submitters peroxisome biogenesis disorder 10A (Zellweger)
- p.Arg286= Multiple submitters
- p.Gln82Arg Multiple submitters peroxisome biogenesis disorder 10A (Zellweger)
- p.Val336= Multiple submitters
Likely benign 160
- c.1039-6del Multiple submitters
- c.287+9A>G Multiple submitters
- c.288-17T>A Multiple submitters
- c.332-20C>T Multiple submitters
- c.456+20A>G Multiple submitters
- c.457-20T>C Multiple submitters
- c.523+25A>G Multiple submitters
- c.524-11T>C Multiple submitters
- c.524-6T>C Multiple submitters
- c.74-68G>A Multiple submitters
- c.747+17C>T Multiple submitters
- c.942-15G>A Multiple submitters
- p.Asn330= Multiple submitters
- p.Gly30= Multiple submitters
- p.Leu171= Multiple submitters
- p.Leu179= Multiple submitters
- p.Leu19= Multiple submitters
- p.Leu209= Multiple submitters
- p.Leu215= Multiple submitters
- p.Thr116= Multiple submitters
- c.1038+10A>G Single submitter
- c.1038+12G>A Single submitter
- c.1038+12G>C Single submitter
- c.1038+15dup Single submitter
- c.1038+15T>C Single submitter
- c.1038+17G>A Single submitter
- c.1039-11_1039-9del Single submitter
- c.1039-11A>G Single submitter
- c.1039-14A>G Single submitter
- c.1039-16T>C Single submitter
- c.1039-17A>G Single submitter
- c.1039-19A>C Single submitter
- c.1039-19A>G Single submitter
- c.205+14A>C Single submitter
- c.205+183A>T Single submitter
- c.206-10T>G Single submitter
- c.206-20T>G Single submitter
- c.206-5T>A Single submitter
- c.206-7A>G Single submitter
- c.287+14A>T Single submitter
- c.287+16A>G Single submitter
- c.287+17G>A Single submitter
- c.287+7_287+9del Single submitter
- c.288-15A>T Single submitter
- c.288-17T>C Single submitter
- c.331+17TG[2] Single submitter
- c.331+20G>A Single submitter
- c.331+7C>G Single submitter
- c.332-13T>C Single submitter
- c.332-20del Single submitter
- c.456+10A>G Single submitter
- c.456+11T>C Single submitter
- c.456+25C>T Single submitter
- c.456+7T>C Single submitter
- c.457-14T>C Single submitter
- c.457-17A>G Single submitter
- c.457-17A>T Single submitter
- c.523+12A>G Single submitter
- c.523+13T>C Single submitter
- c.523+16G>A Single submitter
- c.523+20C>G Single submitter
- c.524-17T>C Single submitter
- c.524-4A>T Single submitter
- c.524-9C>G Single submitter
- c.579-12C>G Single submitter
- c.579-12C>T Single submitter
- c.579-18C>T Single submitter
- c.73+12C>T Single submitter
- c.73+13G>A Single submitter
- c.73+17T>C Single submitter
- c.74-10A>T Single submitter
- c.74-11A>T Single submitter
- c.74-12T>C Single submitter
- c.74-15T>G Single submitter
- c.74-20T>C Single submitter
- c.74-4G>A Single submitter
- c.74-5T>C Single submitter
- c.74-6T>C Single submitter
- c.74-7A>G Single submitter
- c.74-9T>C Single submitter
- c.747+10T>G Single submitter
- c.747+15del Single submitter
- c.747+16C>T Single submitter
- c.747+18A>G Single submitter
- c.748-10A>C Single submitter
- c.748-12T>A Single submitter
- c.748-15A>G Single submitter
- c.748-6C>T Single submitter
- c.748-8T>C Single submitter
- c.818+18A>G Single submitter
- c.818+8_818+9del Single submitter
- c.819-10C>T Single submitter
- c.819-18A>G Single submitter
- c.819-4A>G Single submitter
- c.941+11A>G Single submitter
- c.941+12T>C Single submitter
- c.941+19A>C Single submitter
- c.941+201C>A Single submitter
- c.941+20T>C Single submitter
- c.941+7T>A Single submitter
- c.941+9A>G Single submitter
- c.*1335A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*391G>A Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*895G>A Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Arg290= Single submitter
- p.Arg54= Single submitter
- p.Arg63= Single submitter
- p.Asn150= Single submitter
- p.Asn285= Single submitter
- p.Asn61= Single submitter
- p.Asn95= Single submitter
- p.Asp228= Single submitter
- p.Asp257= Single submitter
- p.Cys16= Single submitter
- p.Gln132= Single submitter
- p.Gln161= Single submitter
- p.Gln162= Single submitter
- p.Gln169= Single submitter
- p.Gln188= Single submitter
- p.Gln307= Single submitter
- p.Gln41= Single submitter
- p.Gln82Trp Single submitter
- p.Glu206= Single submitter
- p.Glu78= Single submitter
- p.Gly148= Single submitter
- p.Gly331= Single submitter
- p.His170= Single submitter
- p.Ile136= Single submitter
- p.Ile154= Single submitter
- p.Ile212= Single submitter
- p.Leu129= Single submitter
- p.Leu176= Single submitter
- p.Leu292= Single submitter
- p.Leu348= Single submitter
- p.Leu349= Single submitter
- p.Leu70= Single submitter
- p.Leu84= Single submitter
- p.Leu92= Single submitter
- p.Lys220= Single submitter
- p.Lys324= Single submitter
- p.Lys373= Single submitter
- p.Phe288= Single submitter
- p.Pro274= Single submitter
- p.Pro327= Single submitter
- p.Ser115= Single submitter
- p.Ser223= Single submitter
- p.Ser317= Single submitter
- p.Ser86= Single submitter
- p.Ser98= Single submitter
- p.Ter374= Single submitter
- p.Thr259= Single submitter
- p.Thr267= Single submitter
- p.Thr367= Single submitter
- p.Tyr237= Single submitter
- p.Tyr48= Single submitter
- p.Val126= Single submitter
- p.Val131= Single submitter
- p.Val216= Single submitter
- p.Val22= Single submitter
- p.Phe18= No assertion criteria PEX3-related disorder
Uncertain significance 180
- c.818+3A>G Multiple submitters
- c.-96G>T Multiple submitters peroxisome biogenesis disorder 10A (Zellweger)
- p.Ala358Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg300Gln Multiple submitters peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Arg54Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn61Lys Multiple submitters ⚠
- p.Asn66Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn85Ser Multiple submitters ⚠
- p.Asp159Ala Multiple submitters Inborn genetic diseases ⚠
- p.Asp228Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp305Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln369Ter Multiple submitters
- p.Glu266Asp Multiple submitters peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Glu44Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly252Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly30Arg Multiple submitters ⚠
- p.His343Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile136Ser Multiple submitters ⚠
- p.Ile325Met Multiple submitters ⚠
- p.Met270Ile Multiple submitters peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Met351Val Multiple submitters Inborn genetic diseases ⚠
- p.Thr367Ile Multiple submitters ⚠
- p.Tyr139Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val182Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val216Ile Multiple submitters Inborn genetic diseases ⚠
- c.1038+4A>G Single submitter
- c.288-3T>C Single submitter
- c.288-6C>A Single submitter
- c.288-6C>G Single submitter
- c.331+6C>G Single submitter
- c.332-3A>G Single submitter
- c.457-8T>A Single submitter
- c.523+4del Single submitter
- c.578+5G>A Single submitter
- c.74-5T>A Single submitter
- c.748-1G>A Single submitter
- c.941+5G>T Single submitter
- c.941+6A>T Single submitter
- c.942-13_942-12delinsGG Single submitter
- c.-175G>C Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.-186C>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.-214G>C Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.-231G>C Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*1074A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*1226A>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*129C>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*1305C>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*1332A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*287A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*321A>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*377C>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*424T>C Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*573A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*677C>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*708A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*742A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*793T>C Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*822A>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*958T>C Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*978C>T Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- c.*985T>G Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Ala145Val Single submitter ⚠
- p.Ala250Ser Single submitter ⚠
- p.Ala296Val Single submitter peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Ala359Thr Single submitter Inborn genetic diseases ⚠
- p.Ala364Val Single submitter ⚠
- p.Ala45Asp Single submitter Inborn genetic diseases ⚠
- p.Ala79Thr Single submitter ⚠
- p.Arg114Gly Single submitter ⚠
- p.Arg114Ile Single submitter ⚠
- p.Arg286Gln Single submitter ⚠
- p.Arg300Pro Single submitter ⚠
- p.Arg53Gln Single submitter ⚠
- p.Arg53Leu Single submitter Inborn genetic diseases ⚠
- p.Asn226Thr Single submitter Inborn genetic diseases ⚠
- p.Asn281Asp Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asn281Tyr Single submitter ⚠
- p.Asn294Ser Single submitter Inborn genetic diseases ⚠
- p.Asn310Asp Single submitter ⚠
- p.Asn330Asp Single submitter ⚠
- p.Asn330Thr Single submitter
- p.Asn360Asp Single submitter ⚠
- p.Asn7Ser Single submitter ⚠
- p.Asn99Asp Single submitter ⚠
- p.Asp204Gly Single submitter ⚠
- p.Asp293= Single submitter
- p.Asp293Gly Single submitter ⚠
- p.Asp293His Single submitter ⚠
- p.Asp305Gly Single submitter ⚠
- p.Cys251Tyr Single submitter ⚠
- p.Cys283Gly Single submitter
- p.Gln132His Single submitter ⚠
- p.Gln185Lys Single submitter peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Gln188Arg Single submitter ⚠
- p.Gln304His Single submitter ⚠
- p.Gln55Pro Single submitter ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu372Lys Single submitter ⚠
- p.Glu87Lys Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly173Arg Single submitter ⚠
- p.Gly229Arg Single submitter Inborn genetic diseases ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly25Glu Single submitter ⚠
- p.Gly287Val Single submitter ⚠
- p.His170Gln Single submitter ⚠
- p.His308Leu Single submitter ⚠
- p.His334Leu Single submitter ⚠
- p.His334Tyr Single submitter ⚠
- p.His57Arg Single submitter ⚠
- p.Ile109Val Single submitter ⚠
- p.Ile110del Single submitter
- p.Ile328Thr Single submitter ⚠
- p.Ile49Val Single submitter ⚠
- p.Leu107= Single submitter peroxisome biogenesis disorder 10A (Zellweger)
- p.Leu128Arg Single submitter Inborn genetic diseases ⚠
- p.Leu171Ile Single submitter ⚠
- p.Leu179Phe Single submitter ⚠
- p.Leu196Phe Single submitter ⚠
- p.Leu200Met Single submitter ⚠
- p.Leu202Val Single submitter ⚠
- p.Leu205Phe Single submitter ⚠
- p.Leu253His Single submitter
- p.Leu284Val Single submitter ⚠
- p.Leu320= Single submitter
- p.Leu80Phe Single submitter ⚠
- p.Leu9Gln Single submitter ⚠
- p.Lys10Gln Single submitter ⚠
- p.Lys149Arg Single submitter Inborn genetic diseases ⚠
- p.Lys184Glu Single submitter ⚠
- p.Met124Ile Single submitter ⚠
- p.Met124Thr Single submitter ⚠
- p.Met238Val Single submitter ⚠
- p.Met270Thr Single submitter Inborn genetic diseases ⚠
- p.Met295Thr Single submitter ⚠
- p.Met312Val Single submitter ⚠
- p.Met351Ile Single submitter ⚠
- p.Met72Val Single submitter
- p.Phe276Cys Single submitter ⚠
- p.Phe298Leu Single submitter ⚠
- p.Pro158Ala Single submitter peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Pro158Ser Single submitter ⚠
- p.Pro255Ser Single submitter ⚠
- p.Pro341= Single submitter
- p.Pro74Ala Single submitter ⚠
- p.Ser111Ile Single submitter peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Ser167Asn Single submitter ⚠
- p.Ser167Gly Single submitter ⚠
- p.Ser201Ala Single submitter ⚠
- p.Ser201Thr Single submitter ⚠
- p.Ser273Arg Single submitter ⚠
- p.Ser338Gly Single submitter ⚠
- p.Ser71Phe Single submitter ⚠
- p.Ter374Leu Single submitter
- p.Ter374Xaa Single submitter
- p.Thr113Ile Single submitter ⚠
- p.Thr116Ala Single submitter ⚠
- p.Thr152Ser Single submitter ⚠
- p.Thr153Ile Single submitter Inborn genetic diseases ⚠
- p.Thr177Ala Single submitter ⚠
- p.Thr21Met Single submitter ⚠
- p.Thr260Ala Single submitter Inborn genetic diseases ⚠
- p.Thr260Ser Single submitter ⚠
- p.Thr302Ala Single submitter Inborn genetic diseases ⚠
- p.Thr350Pro Single submitter peroxisome biogenesis disorder 10A (Zellweger) ⚠
- p.Thr64Pro Single submitter peroxisome biogenesis disorder 1A (Zellweger) ⚠
- p.Trp6Arg Single submitter peroxisome biogenesis disorder 10B ⚠
- p.Val127Ala Single submitter
- p.Val131Ala Single submitter ⚠
- p.Val131Phe Single submitter ⚠
- p.Val216Ala Single submitter ⚠
- p.Val26Ile Single submitter ⚠
- p.Val318Gly Single submitter ⚠
- p.Val329Ile Single submitter ⚠
- p.Val69Gly Single submitter ⚠
- p.Val69Met Single submitter Inborn genetic diseases ⚠
- p.Gln62Lys No assertion criteria ⚠
- p.Ser273Asn No assertion criteria PEX3-related disorder ⚠
- p.Val182fs No assertion criteria