PEX16 — 626 ClinVar variants

All ClinVar germline PEX16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

25 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 33 Conflicting · 13 Benign · 14 Benign/Likely benign · 307 Likely benign · 214 Uncertain significance

Full PEX16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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.

PEX16 p.Ala208Val Conflicting Single submitter
Inborn genetic diseases
PEX16 p.Arg198Trp Conflicting Single submitter
Inborn genetic diseases
PEX16 p.Arg277Trp Conflicting Single submitter
peroxisome biogenesis disorder 8B
PEX16 p.Asp154Gly Conflicting Single submitter
peroxisome biogenesis disorder 8A (Zellweger)
PEX16 p.Glu68Asp Conflicting Single submitter
peroxisome biogenesis disorder 8A (Zellweger)
PEX16 p.Val88Met Conflicting Single submitter
peroxisome biogenesis disorder 8A (Zellweger)

Predictors lean, ClinVar uncertain 138

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

PEX16 p.Ala114Thr Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Arg124Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Arg195Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Arg198Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Arg268Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Arg268Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Arg271Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Arg272Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Arg272Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Arg293Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Arg5Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Arg70Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Arg70Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Asn180Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 8A (Zellweger)
PEX16 p.Asp308Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Asp308His Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Gln164His Uncertain significance Multiple submitters
PEX16-related disorder
PEX16 p.Gln193Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Glu196Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Glu204Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Gly239Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Gly63Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Ile141Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Leu206Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Leu237Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Leu260Met Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Leu274Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Leu282Phe Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Pro159Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Pro210Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Pro74Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Ser158Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Ser165Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Ser334Asn Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Thr211Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Val167Met Uncertain significance Multiple submitters
PEX16-related disorder
PEX16 p.Val251Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Val313Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Val316Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Ala101Thr Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Ala150Ser Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ala220Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ala307Thr Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg195Gln Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg195Trp Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg269Gly Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg269Thr Uncertain significance Single submitter
PEX16 p.Arg271Leu Uncertain significance Single submitter
PEX16 p.Arg272Gly Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Arg275Gln Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg275Trp Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg276His Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg277Gln Uncertain significance Single submitter
PEX16 p.Arg277Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 8B
PEX16 p.Arg293His Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg298Gly Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg30Trp Uncertain significance Single submitter
PEX16 p.Arg66Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 8A (Zellweger)
PEX16 p.Asp253Val Uncertain significance Single submitter
peroxisome biogenesis disorder 8B
PEX16 p.Asp262Asn Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Asp308Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gln12Lys Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gln199Arg Uncertain significance Single submitter
PEX16 p.Gln199Lys Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gln200Arg Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gln24Arg Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Gln304His Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gln80Glu Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Glu163Gly Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Glu217Asp Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Glu296Gly Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Glu45Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Glu68Lys Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gly155Asp Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gly155Ser Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gly236Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gly312Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gly314Ala Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.His157Asn Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.His162Arg Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.His185Arg Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.His203Gln Uncertain significance Single submitter
PEX16 p.His231Arg Uncertain significance Single submitter
PEX16 p.His44Gln Uncertain significance Single submitter
PEX16 p.Ile141Leu Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ile225Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ile279Val Uncertain significance Single submitter
PEX16 p.Leu213Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu215Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu235Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu247Pro Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu274Pro Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu35Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu57Pro Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu60Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu69Arg Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu6Phe Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu77Pro Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu9Phe Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Lys120Met Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Lys244Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 8A (Zellweger)
PEX16 p.Lys72Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 8B
PEX16 p.Lys72Asn Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Met321Val Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Met98Val Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Phe222Leu Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Phe301Tyr Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Phe40Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Pro140Ala Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Pro152Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 8A (Zellweger)
PEX16 p.Pro153Leu Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Pro182Leu Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Pro192Ser Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Pro212Leu Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Pro245Leu Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ser165Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ser207Thr Uncertain significance Single submitter
PEX16-related disorder
PEX16 p.Ser234Gly Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ser242Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 8B
PEX16 p.Ser261Arg Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ser334Thr Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Thr148Ser Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Thr181Met Uncertain significance Single submitter
PEX16-related disorder
PEX16 p.Thr218Asn Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Thr22Lys Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Thr278Ala Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Trp130Ser Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Trp238Cys Uncertain significance Single submitter
peroxisome biogenesis disorder due to PEX16 defect
PEX16 p.Tyr291Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 8B
PEX16 p.Val103Leu Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Val107Met Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Val112Ile Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Val142Ile Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Val251Ile Uncertain significance Single submitter
PEX16 p.Val254Met Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Val310Ile Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Val88Leu Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Val92Met Uncertain significance Single submitter
peroxisome biogenesis disorder

Predictors split 27

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

PEX16 p.Arg271Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Arg287His Pathogenic/Likely pathogenic Multiple submitters
peroxisome biogenesis disorder
PEX16 p.Arg293Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Pro140Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Pro140His Uncertain significance Multiple submitters
Inborn genetic diseases
PEX16 p.Ser76Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 8A (Zellweger)
PEX16 p.Arg109Cys Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg10Ser Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg146Lys Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Arg66Trp Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Asn55Lys Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Glu270Asp Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Gly236Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 8A (Zellweger)
PEX16 p.Gly336Arg Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Leu229Pro Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Lys102Asn Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Met98Thr Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Pro139Ser Uncertain significance Single submitter
PEX16 p.Pro140Thr Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Pro143Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Pro228Leu Uncertain significance Single submitter
PEX16 p.Pro289Ala Conflicting Single submitter
peroxisome biogenesis disorder
PEX16 p.Ser242Leu Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ser33Thr Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Ser87Asn Uncertain significance Single submitter
Inborn genetic diseases
PEX16 p.Trp104Arg Uncertain significance Single submitter
peroxisome biogenesis disorder
PEX16 p.Val58Met Uncertain significance Single submitter
peroxisome biogenesis disorder

All PEX16 variants

Pathogenic 25

p.Arg176Ter Multiple submitters peroxisome biogenesis disorder
p.Ala150fs Single submitter peroxisome biogenesis disorder
p.Ala20fs Single submitter peroxisome biogenesis disorder
p.Arg275fs Single submitter peroxisome biogenesis disorder
p.Arg39Ter Single submitter peroxisome biogenesis disorder
p.Gln151Ter Single submitter peroxisome biogenesis disorder
p.Gln179Ter Single submitter peroxisome biogenesis disorder
p.Gln199Ter Single submitter peroxisome biogenesis disorder
p.Gln240Ter Single submitter peroxisome biogenesis disorder
p.Gln80Ter Single submitter peroxisome biogenesis disorder
p.Glu273Ter Single submitter peroxisome biogenesis disorder
p.Glu48fs Single submitter peroxisome biogenesis disorder
p.His18fs Single submitter peroxisome biogenesis disorder
p.Leu49fs Single submitter peroxisome biogenesis disorder
p.Ser171Ter Single submitter peroxisome biogenesis disorder
p.Thr22fs Single submitter peroxisome biogenesis disorder
p.Trp104Ter Single submitter peroxisome biogenesis disorder
p.Trp238Ter Single submitter peroxisome biogenesis disorder
p.Trp243Ter Single submitter peroxisome biogenesis disorder
p.Trp246Ter Single submitter peroxisome biogenesis disorder
p.Trp85Ter Single submitter peroxisome biogenesis disorder
c.952+118_*82del No assertion criteria peroxisome biogenesis disorder 8B
c.952+2T>C No assertion criteria peroxisome biogenesis disorder 8A (Zellweger)
p.Ile330fs No assertion criteria peroxisome biogenesis disorder 8B
p.Tyr331Cys No assertion criteria peroxisome biogenesis disorder 8B

Pathogenic/Likely pathogenic 2

p.Arg287Cys Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
p.Arg287His Multiple submitters peroxisome biogenesis disorder ⚠

Likely pathogenic 18

c.888-1G>C Multiple submitters PEX16-related disorder
p.Arg227Trp Multiple submitters peroxisome biogenesis disorder
c.112+2T>G Single submitter peroxisome biogenesis disorder
c.113-2A>G Single submitter PEX16-related disorder
c.149-2A>G Single submitter peroxisome biogenesis disorder
c.226-2A>C Single submitter peroxisome biogenesis disorder
c.359+1G>A Single submitter peroxisome biogenesis disorder
c.359+2T>G Single submitter peroxisome biogenesis disorder
c.461-2_461del Single submitter
c.694+1G>A Single submitter peroxisome biogenesis disorder
c.887+2T>G Single submitter peroxisome biogenesis disorder
c.888-2A>C Single submitter peroxisome biogenesis disorder
p.Arg227Gly Single submitter peroxisome biogenesis disorder 8B
p.Gln149fs Single submitter PEX16-related disorder
p.Gln200Ter Single submitter PEX16-related disorder
p.Ile219fs Single submitter PEX16-related disorder
p.Leu213fs Single submitter peroxisome biogenesis disorder 8B
p.Phe332del Single submitter peroxisome biogenesis disorder 8B

Conflicting classifications of pathogenicity 33

c.112+5C>A Single submitter peroxisome biogenesis disorder
c.149-13C>G Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.360-7G>A Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.460+5G>A Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.541+8G>A Single submitter peroxisome biogenesis disorder
c.694+11C>T Single submitter peroxisome biogenesis disorder
c.695-5G>A Single submitter peroxisome biogenesis disorder
c.695-6C>T Single submitter Inborn genetic diseases
c.887+9C>A Single submitter peroxisome biogenesis disorder
c.*175C>A Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*70C>G Single submitter peroxisome biogenesis disorder 8A (Zellweger)
p.Ala208Val Single submitter Inborn genetic diseases ⚠
p.Arg198Trp Single submitter Inborn genetic diseases ⚠
p.Arg277Trp Single submitter peroxisome biogenesis disorder 8B ⚠
p.Asp154Gly Single submitter peroxisome biogenesis disorder 8A (Zellweger) ⚠
p.Cys91= Single submitter peroxisome biogenesis disorder
p.Glu204= Single submitter peroxisome biogenesis disorder
p.Glu68Asp Single submitter peroxisome biogenesis disorder 8A (Zellweger) ⚠
p.His203= Single submitter peroxisome biogenesis disorder
p.Leu60= Single submitter peroxisome biogenesis disorder
p.Leu9= Single submitter peroxisome biogenesis disorder
p.Phe332= Single submitter peroxisome biogenesis disorder
p.Pro289Ala Single submitter peroxisome biogenesis disorder ⚠
p.Pro319del Single submitter
p.Ser256= Single submitter Inborn genetic diseases
p.Ser258= Single submitter peroxisome biogenesis disorder
p.Ser295= Single submitter peroxisome biogenesis disorder
p.Ser334= Single submitter peroxisome biogenesis disorder 8A (Zellweger)
p.Thr181= Single submitter peroxisome biogenesis disorder
p.Tyr224= Single submitter peroxisome biogenesis disorder 8A (Zellweger)
p.Tyr333= Single submitter peroxisome biogenesis disorder
p.Val29= Single submitter peroxisome biogenesis disorder
p.Val88Met Single submitter peroxisome biogenesis disorder 8A (Zellweger) ⚠

Benign 13

c.768-38A>G Multiple submitters
c.887+117G>A Multiple submitters
c.952+203C>T Multiple submitters
c.*303C>T Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
c.*376G>C Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
c.*438C>T Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
c.148+137A>T Single submitter
c.149-116_149-115del Single submitter
c.460+202C>G Single submitter
c.888-249G>A Single submitter
c.888-287A>T Single submitter
c.888-3dup Single submitter peroxisome biogenesis disorder
p.Val116= Single submitter peroxisome biogenesis disorder

Benign/Likely benign 14

c.149-6C>T Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
c.359+13del Multiple submitters peroxisome biogenesis disorder
c.542-16C>T Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
c.952+18C>T Multiple submitters peroxisome biogenesis disorder
c.952+20_952+21del Multiple submitters peroxisome biogenesis disorder
c.*10C>T Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
c.*158A>C Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
c.*5C>A Multiple submitters
c.*65T>C Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
p.Pro212Arg Multiple submitters peroxisome biogenesis disorder
p.Ser54= Multiple submitters peroxisome biogenesis disorder
p.Tyr291= Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
p.Val103Met Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
p.Val254Leu Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)

Likely benign 307

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

c.113-11C>T Multiple submitters peroxisome biogenesis disorder
c.113-4C>T Multiple submitters peroxisome biogenesis disorder
c.148+19G>A Multiple submitters peroxisome biogenesis disorder
c.360-13C>T Multiple submitters peroxisome biogenesis disorder
c.360-18A>C Multiple submitters peroxisome biogenesis disorder
c.360-8C>T Multiple submitters peroxisome biogenesis disorder
c.460+84G>A Multiple submitters
c.461-15G>A Multiple submitters peroxisome biogenesis disorder
c.694+12G>A Multiple submitters peroxisome biogenesis disorder
c.694+17del Multiple submitters peroxisome biogenesis disorder
c.695-14G>A Multiple submitters peroxisome biogenesis disorder
c.695-15C>T Multiple submitters peroxisome biogenesis disorder
c.768-12C>T Multiple submitters peroxisome biogenesis disorder
c.768-18G>A Multiple submitters peroxisome biogenesis disorder
c.768-18G>T Multiple submitters peroxisome biogenesis disorder
c.768-20A>G Multiple submitters peroxisome biogenesis disorder
c.887+9C>G Multiple submitters peroxisome biogenesis disorder
c.952+10G>A Multiple submitters peroxisome biogenesis disorder
c.952+20C>T Multiple submitters peroxisome biogenesis disorder
c.953-15C>T Multiple submitters peroxisome biogenesis disorder
c.*159C>T Multiple submitters
c.*173C>T Multiple submitters
c.*78G>A Multiple submitters
p.Arg227= Multiple submitters peroxisome biogenesis disorder
p.Asp253= Multiple submitters peroxisome biogenesis disorder
p.Asp62= Multiple submitters peroxisome biogenesis disorder
p.Gly312= Multiple submitters peroxisome biogenesis disorder
p.Gly8= Multiple submitters peroxisome biogenesis disorder
p.His309= Multiple submitters peroxisome biogenesis disorder
p.Leu229= Multiple submitters peroxisome biogenesis disorder
p.Leu237= Multiple submitters peroxisome biogenesis disorder
p.Leu282= Multiple submitters peroxisome biogenesis disorder
p.Leu320= Multiple submitters peroxisome biogenesis disorder
p.Lys264= Multiple submitters peroxisome biogenesis disorder
p.Pro182= Multiple submitters peroxisome biogenesis disorder
p.Pro228= Multiple submitters peroxisome biogenesis disorder
p.Ser87= Multiple submitters peroxisome biogenesis disorder
p.Thr218= Multiple submitters peroxisome biogenesis disorder
c.112+18G>C Single submitter peroxisome biogenesis disorder
c.112+20T>C Single submitter peroxisome biogenesis disorder
c.112+9C>G Single submitter peroxisome biogenesis disorder
c.112+9C>T Single submitter peroxisome biogenesis disorder
c.113-10C>G Single submitter peroxisome biogenesis disorder
c.113-10C>T Single submitter peroxisome biogenesis disorder
c.113-11C>G Single submitter peroxisome biogenesis disorder
c.113-12C>T Single submitter peroxisome biogenesis disorder
c.113-13A>G Single submitter peroxisome biogenesis disorder
c.113-15_113-7del Single submitter peroxisome biogenesis disorder
c.113-15G>A Single submitter peroxisome biogenesis disorder
c.113-18_113-16del Single submitter peroxisome biogenesis disorder
c.113-18T>C Single submitter peroxisome biogenesis disorder
c.113-20C>T Single submitter peroxisome biogenesis disorder
c.113-21_113-19del Single submitter peroxisome biogenesis disorder
c.113-5C>G Single submitter peroxisome biogenesis disorder
c.113-5C>T Single submitter peroxisome biogenesis disorder
c.113-6C>A Single submitter peroxisome biogenesis disorder
c.113-8C>T Single submitter peroxisome biogenesis disorder
c.113-9T>C Single submitter peroxisome biogenesis disorder
c.148+10G>A Single submitter peroxisome biogenesis disorder
c.148+10G>C Single submitter peroxisome biogenesis disorder
c.148+13C>G Single submitter peroxisome biogenesis disorder
c.148+18G>A Single submitter peroxisome biogenesis disorder
c.148+18G>T Single submitter peroxisome biogenesis disorder
c.148+7C>T Single submitter peroxisome biogenesis disorder
c.148+9G>T Single submitter peroxisome biogenesis disorder
c.149-11C>T Single submitter peroxisome biogenesis disorder
c.149-14T>C Single submitter peroxisome biogenesis disorder
c.149-15C>G Single submitter peroxisome biogenesis disorder
c.149-15CT[2] Single submitter peroxisome biogenesis disorder
c.149-19G>C Single submitter peroxisome biogenesis disorder
c.149-20G>A Single submitter peroxisome biogenesis disorder
c.149-21A>G Single submitter
c.149-5C>G Single submitter peroxisome biogenesis disorder
c.149-7C>T Single submitter peroxisome biogenesis disorder
c.149-9A>G Single submitter peroxisome biogenesis disorder
c.225+12G>A Single submitter peroxisome biogenesis disorder
c.225+15A>G Single submitter peroxisome biogenesis disorder
c.225+16A>G Single submitter peroxisome biogenesis disorder
c.225+18A>G Single submitter peroxisome biogenesis disorder
c.225+18A>T Single submitter peroxisome biogenesis disorder
c.226-10G>A Single submitter peroxisome biogenesis disorder
c.226-12G>A Single submitter peroxisome biogenesis disorder
c.226-16C>T Single submitter peroxisome biogenesis disorder
c.226-17G>T Single submitter peroxisome biogenesis disorder
c.226-20T>C Single submitter peroxisome biogenesis disorder
c.226-21_226-19del Single submitter peroxisome biogenesis disorder
c.226-6T>C Single submitter peroxisome biogenesis disorder
c.226-8del Single submitter peroxisome biogenesis disorder
c.359+14G>T Single submitter peroxisome biogenesis disorder
c.359+15T>C Single submitter peroxisome biogenesis disorder
c.359+16G>A Single submitter peroxisome biogenesis disorder
c.359+20A>G Single submitter
c.359+7dup Single submitter peroxisome biogenesis disorder
c.360-11C>A Single submitter peroxisome biogenesis disorder
c.360-11C>T Single submitter peroxisome biogenesis disorder
c.360-15T>C Single submitter peroxisome biogenesis disorder
c.360-16A>C Single submitter peroxisome biogenesis disorder
c.360-16A>T Single submitter peroxisome biogenesis disorder
c.360-17C>T Single submitter peroxisome biogenesis disorder
c.360-20T>C Single submitter peroxisome biogenesis disorder
c.360-5C>A Single submitter peroxisome biogenesis disorder
c.360-6A>T Single submitter peroxisome biogenesis disorder
c.460+16A>C Single submitter peroxisome biogenesis disorder
c.460+17A>G Single submitter peroxisome biogenesis disorder
c.460+19C>T Single submitter peroxisome biogenesis disorder
c.460+20C>A Single submitter peroxisome biogenesis disorder
c.460+9C>T Single submitter peroxisome biogenesis disorder
c.461-11A>G Single submitter peroxisome biogenesis disorder
c.461-12_461-9del Single submitter peroxisome biogenesis disorder
c.461-15G>T Single submitter peroxisome biogenesis disorder
c.461-16T>C Single submitter peroxisome biogenesis disorder
c.461-17C>A Single submitter peroxisome biogenesis disorder
c.461-9C>G Single submitter peroxisome biogenesis disorder
c.461-9C>T Single submitter peroxisome biogenesis disorder
c.541+10G>T Single submitter peroxisome biogenesis disorder
c.541+11G>A Single submitter peroxisome biogenesis disorder
c.541+11G>T Single submitter peroxisome biogenesis disorder
c.541+12A>T Single submitter peroxisome biogenesis disorder
c.541+14G>A Single submitter peroxisome biogenesis disorder
c.541+15T>A Single submitter peroxisome biogenesis disorder
c.541+15T>C Single submitter peroxisome biogenesis disorder
c.541+20G>A Single submitter peroxisome biogenesis disorder
c.542-12C>A Single submitter peroxisome biogenesis disorder
c.542-12C>G Single submitter peroxisome biogenesis disorder
c.542-15G>A Single submitter peroxisome biogenesis disorder
c.542-20C>T Single submitter peroxisome biogenesis disorder
c.542-4C>G Single submitter peroxisome biogenesis disorder
c.694+13C>T Single submitter peroxisome biogenesis disorder
c.694+14G>A Single submitter peroxisome biogenesis disorder
c.694+20G>A Single submitter peroxisome biogenesis disorder
c.694+7T>A Single submitter peroxisome biogenesis disorder
c.695-13C>A Single submitter peroxisome biogenesis disorder
c.695-18dup Single submitter peroxisome biogenesis disorder
c.695-4T>C Single submitter peroxisome biogenesis disorder
c.695-7C>T Single submitter peroxisome biogenesis disorder
c.767+14T>C Single submitter peroxisome biogenesis disorder
c.767+15G>C Single submitter peroxisome biogenesis disorder
c.767+15G>T Single submitter peroxisome biogenesis disorder
c.767+16C>T Single submitter peroxisome biogenesis disorder
c.767+20G>A Single submitter peroxisome biogenesis disorder
c.767+20G>T Single submitter peroxisome biogenesis disorder
c.767+7_767+10dup Single submitter peroxisome biogenesis disorder
c.767+8T>C Single submitter peroxisome biogenesis disorder
c.768-14T>A Single submitter peroxisome biogenesis disorder
c.768-15C>T Single submitter peroxisome biogenesis disorder
c.768-20_768-18del Single submitter peroxisome biogenesis disorder
c.768-8C>A Single submitter peroxisome biogenesis disorder
c.887+10C>T Single submitter peroxisome biogenesis disorder
c.887+14A>G Single submitter peroxisome biogenesis disorder
c.887+17C>A Single submitter peroxisome biogenesis disorder
c.887+7A>C Single submitter peroxisome biogenesis disorder
c.887+8C>T Single submitter peroxisome biogenesis disorder
c.888-10C>T Single submitter peroxisome biogenesis disorder
c.888-11G>C Single submitter peroxisome biogenesis disorder
c.888-12T>G Single submitter peroxisome biogenesis disorder
c.888-14A>G Single submitter peroxisome biogenesis disorder
c.888-17T>C Single submitter peroxisome biogenesis disorder
c.888-18A>C Single submitter peroxisome biogenesis disorder
c.888-7C>T Single submitter peroxisome biogenesis disorder
c.888-9C>A Single submitter peroxisome biogenesis disorder
c.888-9C>T Single submitter peroxisome biogenesis disorder
c.952+12T>C Single submitter peroxisome biogenesis disorder
c.952+15G>T Single submitter peroxisome biogenesis disorder
c.952+16G>A Single submitter peroxisome biogenesis disorder
c.952+19G>A Single submitter peroxisome biogenesis disorder
c.952+19G>C Single submitter peroxisome biogenesis disorder
c.952+19G>T Single submitter peroxisome biogenesis disorder
c.952+20C>G Single submitter peroxisome biogenesis disorder
c.952+8G>T Single submitter peroxisome biogenesis disorder
c.952+9G>A Single submitter peroxisome biogenesis disorder
c.953-12C>G Single submitter peroxisome biogenesis disorder
c.953-12C>T Single submitter peroxisome biogenesis disorder
c.953-20G>A Single submitter peroxisome biogenesis disorder
c.953-4G>T Single submitter peroxisome biogenesis disorder
c.953-6C>T Single submitter peroxisome biogenesis disorder
c.953-8C>T Single submitter peroxisome biogenesis disorder
c.953-9C>T Single submitter peroxisome biogenesis disorder
c.*144G>A Single submitter
c.*20G>A Single submitter
c.*587A>G Single submitter
p.Ala101= Single submitter peroxisome biogenesis disorder
p.Ala114= Single submitter peroxisome biogenesis disorder
p.Ala119= Single submitter peroxisome biogenesis disorder
p.Ala121= Single submitter peroxisome biogenesis disorder
p.Ala20= Single submitter peroxisome biogenesis disorder
p.Ala208= Single submitter peroxisome biogenesis disorder
p.Ala297= Single submitter peroxisome biogenesis disorder
p.Ala307= Single submitter peroxisome biogenesis disorder
p.Arg124= Single submitter peroxisome biogenesis disorder
p.Arg146= Single submitter peroxisome biogenesis disorder
p.Arg195= Single submitter peroxisome biogenesis disorder
p.Arg198= Single submitter peroxisome biogenesis disorder
p.Arg269= Single submitter peroxisome biogenesis disorder
p.Arg275= Single submitter peroxisome biogenesis disorder
p.Arg276= Single submitter peroxisome biogenesis disorder
p.Arg5= Single submitter peroxisome biogenesis disorder
p.Asn172= Single submitter peroxisome biogenesis disorder
p.Asn55= Single submitter peroxisome biogenesis disorder
p.Asp154= Single submitter peroxisome biogenesis disorder
p.Asp156= Single submitter peroxisome biogenesis disorder
p.Asp262= Single submitter peroxisome biogenesis disorder
p.Asp322= Single submitter peroxisome biogenesis disorder
p.Gln164= Single submitter peroxisome biogenesis disorder
p.Gln200= Single submitter peroxisome biogenesis disorder
p.Gln201= Single submitter peroxisome biogenesis disorder
p.Gln240= Single submitter peroxisome biogenesis disorder
p.Gln79= Single submitter peroxisome biogenesis disorder
p.Glu163= Single submitter peroxisome biogenesis disorder
p.Glu270= Single submitter peroxisome biogenesis disorder
p.Gly108= Single submitter peroxisome biogenesis disorder
p.Gly31= Single submitter peroxisome biogenesis disorder
p.Gly314= Single submitter peroxisome biogenesis disorder
p.Gly336= Single submitter peroxisome biogenesis disorder
p.Gly63= Single submitter peroxisome biogenesis disorder
p.Gly8Ser Single submitter
p.His157= Single submitter peroxisome biogenesis disorder
p.His18= Single submitter peroxisome biogenesis disorder
p.His188= Single submitter peroxisome biogenesis disorder
p.His203Asn Single submitter Inborn genetic diseases
p.His44= Single submitter peroxisome biogenesis disorder
p.Ile113= Single submitter peroxisome biogenesis disorder
p.Ile141= Single submitter peroxisome biogenesis disorder
p.Ile219= Single submitter peroxisome biogenesis disorder
p.Ile225= Single submitter peroxisome biogenesis disorder
p.Ile299= Single submitter peroxisome biogenesis disorder
p.Ile64= Single submitter peroxisome biogenesis disorder
p.Leu123= Single submitter peroxisome biogenesis disorder
p.Leu126= Single submitter peroxisome biogenesis disorder
p.Leu127= Single submitter peroxisome biogenesis disorder
p.Leu129= Single submitter peroxisome biogenesis disorder
p.Leu144= Single submitter peroxisome biogenesis disorder
p.Leu178= Single submitter peroxisome biogenesis disorder
p.Leu206= Single submitter peroxisome biogenesis disorder
p.Leu215= Single submitter peroxisome biogenesis disorder
p.Leu230= Single submitter peroxisome biogenesis disorder
p.Leu232= Single submitter peroxisome biogenesis disorder
p.Leu233= Single submitter peroxisome biogenesis disorder
p.Leu235= Single submitter peroxisome biogenesis disorder
p.Leu248= Single submitter peroxisome biogenesis disorder
p.Leu257= Single submitter peroxisome biogenesis disorder
p.Leu260= Single submitter peroxisome biogenesis disorder
p.Leu266= Single submitter peroxisome biogenesis disorder
p.Leu281= Single submitter peroxisome biogenesis disorder
p.Leu285= Single submitter peroxisome biogenesis disorder
p.Leu300= Single submitter peroxisome biogenesis disorder
p.Leu302= Single submitter peroxisome biogenesis disorder
p.Leu303= Single submitter peroxisome biogenesis disorder
p.Leu305= Single submitter peroxisome biogenesis disorder
p.Leu306= Single submitter peroxisome biogenesis disorder
p.Leu315= Single submitter peroxisome biogenesis disorder
p.Leu324= Single submitter peroxisome biogenesis disorder
p.Leu35= Single submitter peroxisome biogenesis disorder
p.Leu36= Single submitter peroxisome biogenesis disorder
p.Leu4= Single submitter peroxisome biogenesis disorder
p.Leu46= Single submitter peroxisome biogenesis disorder
p.Leu57= Single submitter peroxisome biogenesis disorder
p.Leu59= Single submitter peroxisome biogenesis disorder
p.Leu6= Single submitter peroxisome biogenesis disorder
p.Leu65= Single submitter peroxisome biogenesis disorder
p.Leu7= Single submitter peroxisome biogenesis disorder
p.Leu82= Single submitter peroxisome biogenesis disorder
p.Leu86= Single submitter peroxisome biogenesis disorder
p.Lys102= Single submitter peroxisome biogenesis disorder
p.Lys244= Single submitter peroxisome biogenesis disorder
p.Lys72= Single submitter peroxisome biogenesis disorder
p.Phe222= Single submitter peroxisome biogenesis disorder
p.Phe301= Single submitter peroxisome biogenesis disorder
p.Phe40= Single submitter peroxisome biogenesis disorder
p.Pro19= Single submitter peroxisome biogenesis disorder
p.Pro210= Single submitter peroxisome biogenesis disorder
p.Pro212= Single submitter peroxisome biogenesis disorder
p.Pro245= Single submitter peroxisome biogenesis disorder
p.Pro311= Single submitter peroxisome biogenesis disorder
p.Pro319= Single submitter peroxisome biogenesis disorder
p.Pro325= Single submitter peroxisome biogenesis disorder
p.Ser138= Single submitter peroxisome biogenesis disorder
p.Ser171= Single submitter peroxisome biogenesis disorder
p.Ser183= Single submitter peroxisome biogenesis disorder
p.Ser234= Single submitter peroxisome biogenesis disorder
p.Ser242= Single submitter peroxisome biogenesis disorder
p.Ser43= Single submitter peroxisome biogenesis disorder
p.Ser52= Single submitter peroxisome biogenesis disorder
p.Ser76= Single submitter peroxisome biogenesis disorder
p.Thr148= Single submitter peroxisome biogenesis disorder
p.Thr209= Single submitter peroxisome biogenesis disorder
p.Thr211= Single submitter peroxisome biogenesis disorder
p.Thr22= Single submitter peroxisome biogenesis disorder
p.Thr267= Single submitter peroxisome biogenesis disorder
p.Thr27= Single submitter peroxisome biogenesis disorder
p.Thr278= Single submitter peroxisome biogenesis disorder
p.Thr326= Single submitter peroxisome biogenesis disorder
p.Thr84= Single submitter peroxisome biogenesis disorder
p.Tyr14= Single submitter peroxisome biogenesis disorder
p.Tyr166= Single submitter peroxisome biogenesis disorder
p.Tyr34= Single submitter peroxisome biogenesis disorder
p.Tyr51= Single submitter peroxisome biogenesis disorder
p.Val116Ile Single submitter peroxisome biogenesis disorder
p.Val175= Single submitter peroxisome biogenesis disorder
p.Val310= Single submitter peroxisome biogenesis disorder
p.Val316= Single submitter peroxisome biogenesis disorder

Uncertain significance 214

c.225+3G>A Multiple submitters peroxisome biogenesis disorder
p.Ala114Thr Multiple submitters peroxisome biogenesis disorder ⚠
p.Arg124Trp Multiple submitters peroxisome biogenesis disorder ⚠
p.Arg195Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg198Gln Multiple submitters peroxisome biogenesis disorder ⚠
p.Arg227Gln Multiple submitters peroxisome biogenesis disorder 8A (Zellweger)
p.Arg268Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg268Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg271Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg271Trp Multiple submitters peroxisome biogenesis disorder ⚠
p.Arg272Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg272Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg276Cys Multiple submitters peroxisome biogenesis disorder
p.Arg293Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg293Ser Multiple submitters peroxisome biogenesis disorder ⚠
p.Arg5Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg70Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg70Trp Multiple submitters peroxisome biogenesis disorder ⚠
p.Asn180Lys Multiple submitters peroxisome biogenesis disorder 8A (Zellweger) ⚠
p.Asp308Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp308His Multiple submitters peroxisome biogenesis disorder ⚠
p.Gln164His Multiple submitters PEX16-related disorder ⚠
p.Gln193Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu196Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu204Lys Multiple submitters peroxisome biogenesis disorder ⚠
p.Gly239Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly63Arg Multiple submitters peroxisome biogenesis disorder ⚠
p.Ile141Val Multiple submitters Inborn genetic diseases ⚠
p.Leu206Val Multiple submitters peroxisome biogenesis disorder ⚠
p.Leu237Arg Multiple submitters peroxisome biogenesis disorder ⚠
p.Leu260Met Multiple submitters Inborn genetic diseases ⚠
p.Leu274Met Multiple submitters peroxisome biogenesis disorder ⚠
p.Leu282Phe Multiple submitters peroxisome biogenesis disorder ⚠
p.Leu49= Multiple submitters peroxisome biogenesis disorder
p.Met321Thr Multiple submitters Inborn genetic diseases
p.Pro140Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro140His Multiple submitters Inborn genetic diseases ⚠
p.Pro159Ser Multiple submitters peroxisome biogenesis disorder ⚠
p.Pro210Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro74Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser158Gly Multiple submitters peroxisome biogenesis disorder ⚠
p.Ser165Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser334Asn Multiple submitters peroxisome biogenesis disorder ⚠
p.Ser76Leu Multiple submitters peroxisome biogenesis disorder 8A (Zellweger) ⚠
p.Thr211Ile Multiple submitters peroxisome biogenesis disorder ⚠
p.Val167Met Multiple submitters PEX16-related disorder ⚠
p.Val251Gly Multiple submitters Inborn genetic diseases ⚠
p.Val313Ile Multiple submitters peroxisome biogenesis disorder ⚠
p.Val316Ile Multiple submitters peroxisome biogenesis disorder ⚠
c.112+5C>T Single submitter peroxisome biogenesis disorder
c.149-3C>T Single submitter peroxisome biogenesis disorder
c.360-18A>G Single submitter peroxisome biogenesis disorder
c.360-9C>A Single submitter peroxisome biogenesis disorder
c.460+3G>A Single submitter peroxisome biogenesis disorder
c.461-2_461delinsCT Single submitter
c.461-6del Single submitter peroxisome biogenesis disorder
c.461-6T>A Single submitter peroxisome biogenesis disorder
c.461-8C>A Single submitter peroxisome biogenesis disorder
c.694+3A>G Single submitter peroxisome biogenesis disorder
c.694+6C>A Single submitter peroxisome biogenesis disorder
c.888-3C>A Single submitter peroxisome biogenesis disorder
c.952+3A>C Single submitter peroxisome biogenesis disorder
c.952+3A>G Single submitter peroxisome biogenesis disorder 8B
c.952+6C>T Single submitter peroxisome biogenesis disorder
c.953-5T>A Single submitter peroxisome biogenesis disorder
c.-63G>C Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*104dup Single submitter
c.*107C>T Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*277C>T Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*309G>C Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*324G>A Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*376G>A Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*491G>A Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*53C>G Single submitter peroxisome biogenesis disorder 8A (Zellweger)
c.*557G>C Single submitter peroxisome biogenesis disorder 8A (Zellweger)
p.268RRE[3] Single submitter peroxisome biogenesis disorder
p.Ala101Thr Single submitter Inborn genetic diseases ⚠
p.Ala150Ser Single submitter peroxisome biogenesis disorder ⚠
p.Ala220Val Single submitter peroxisome biogenesis disorder ⚠
p.Ala307Thr Single submitter peroxisome biogenesis disorder ⚠
p.Ala37= Single submitter peroxisome biogenesis disorder 8B
p.Arg109Cys Single submitter peroxisome biogenesis disorder ⚠
p.Arg10Ser Single submitter peroxisome biogenesis disorder ⚠
p.Arg124Gln Single submitter peroxisome biogenesis disorder
p.Arg146Lys Single submitter peroxisome biogenesis disorder ⚠
p.Arg176Gln Single submitter peroxisome biogenesis disorder
p.Arg195Gln Single submitter peroxisome biogenesis disorder ⚠
p.Arg195Trp Single submitter peroxisome biogenesis disorder ⚠
p.Arg269Gly Single submitter peroxisome biogenesis disorder ⚠
p.Arg269Thr Single submitter ⚠
p.Arg271Leu Single submitter ⚠
p.Arg272Gly Single submitter Inborn genetic diseases ⚠
p.Arg275Gln Single submitter peroxisome biogenesis disorder ⚠
p.Arg275Trp Single submitter peroxisome biogenesis disorder ⚠
p.Arg276His Single submitter peroxisome biogenesis disorder ⚠
p.Arg277Gln Single submitter ⚠
p.Arg277Leu Single submitter peroxisome biogenesis disorder 8B ⚠
p.Arg287= Single submitter peroxisome biogenesis disorder 8A (Zellweger)
p.Arg293His Single submitter peroxisome biogenesis disorder ⚠
p.Arg298Gly Single submitter peroxisome biogenesis disorder ⚠
p.Arg30Trp Single submitter ⚠
p.Arg66Gln Single submitter peroxisome biogenesis disorder 8A (Zellweger) ⚠
p.Arg66Trp Single submitter peroxisome biogenesis disorder ⚠
p.Asn55Lys Single submitter peroxisome biogenesis disorder ⚠
p.Asp253Val Single submitter peroxisome biogenesis disorder 8B ⚠
p.Asp262Asn Single submitter peroxisome biogenesis disorder ⚠
p.Asp292Asn Single submitter peroxisome biogenesis disorder
p.Asp292Tyr Single submitter peroxisome biogenesis disorder
p.Asp308Val Single submitter peroxisome biogenesis disorder ⚠
p.Gln12Lys Single submitter peroxisome biogenesis disorder ⚠
p.Gln199Arg Single submitter ⚠
p.Gln199Lys Single submitter peroxisome biogenesis disorder ⚠
p.Gln200Arg Single submitter peroxisome biogenesis disorder ⚠
p.Gln24Arg Single submitter Inborn genetic diseases ⚠
p.Gln304His Single submitter peroxisome biogenesis disorder ⚠
p.Gln80Glu Single submitter Inborn genetic diseases ⚠
p.Glu163Gly Single submitter peroxisome biogenesis disorder ⚠
p.Glu217Asp Single submitter peroxisome biogenesis disorder ⚠
p.Glu217del Single submitter peroxisome biogenesis disorder
p.Glu270Asp Single submitter peroxisome biogenesis disorder ⚠
p.Glu296Gly Single submitter peroxisome biogenesis disorder ⚠
p.Glu45Val Single submitter peroxisome biogenesis disorder ⚠
p.Glu68Lys Single submitter peroxisome biogenesis disorder ⚠
p.Gly155Asp Single submitter peroxisome biogenesis disorder ⚠
p.Gly155Ser Single submitter peroxisome biogenesis disorder ⚠
p.Gly236Arg Single submitter peroxisome biogenesis disorder 8A (Zellweger) ⚠
p.Gly236Val Single submitter peroxisome biogenesis disorder ⚠
p.Gly312Val Single submitter peroxisome biogenesis disorder ⚠
p.Gly314Ala Single submitter peroxisome biogenesis disorder ⚠
p.Gly336Arg Single submitter peroxisome biogenesis disorder ⚠
p.Gly336fs Single submitter
p.His157Asn Single submitter peroxisome biogenesis disorder ⚠
p.His162Arg Single submitter peroxisome biogenesis disorder ⚠
p.His185Arg Single submitter peroxisome biogenesis disorder ⚠
p.His203Gln Single submitter ⚠
p.His231Arg Single submitter ⚠
p.His44Gln Single submitter ⚠
p.Ile141Leu Single submitter peroxisome biogenesis disorder ⚠
p.Ile225Val Single submitter peroxisome biogenesis disorder ⚠
p.Ile279Val Single submitter ⚠
p.Leu213Val Single submitter peroxisome biogenesis disorder ⚠
p.Leu215Val Single submitter peroxisome biogenesis disorder ⚠
p.Leu229Pro Single submitter peroxisome biogenesis disorder ⚠
p.Leu235Val Single submitter peroxisome biogenesis disorder ⚠
p.Leu247Pro Single submitter peroxisome biogenesis disorder ⚠
p.Leu274Pro Single submitter peroxisome biogenesis disorder ⚠
p.Leu35Val Single submitter peroxisome biogenesis disorder ⚠
p.Leu57Phe Single submitter peroxisome biogenesis disorder
p.Leu57Pro Single submitter peroxisome biogenesis disorder ⚠
p.Leu60Val Single submitter peroxisome biogenesis disorder ⚠
p.Leu69Arg Single submitter peroxisome biogenesis disorder ⚠
p.Leu6Phe Single submitter peroxisome biogenesis disorder ⚠
p.Leu77Pro Single submitter peroxisome biogenesis disorder ⚠
p.Leu9Phe Single submitter peroxisome biogenesis disorder ⚠
p.Lys102Asn Single submitter peroxisome biogenesis disorder ⚠
p.Lys120Met Single submitter peroxisome biogenesis disorder ⚠
p.Lys244Gln Single submitter peroxisome biogenesis disorder 8A (Zellweger) ⚠
p.Lys72Arg Single submitter peroxisome biogenesis disorder 8B ⚠
p.Lys72Asn Single submitter peroxisome biogenesis disorder ⚠
p.Met321fs Single submitter peroxisome biogenesis disorder
p.Met321Val Single submitter peroxisome biogenesis disorder ⚠
p.Met98Thr Single submitter peroxisome biogenesis disorder ⚠
p.Met98Val Single submitter Inborn genetic diseases ⚠
p.Phe222Leu Single submitter Inborn genetic diseases ⚠
p.Phe301Tyr Single submitter Inborn genetic diseases ⚠
p.Phe332_Tyr333del Single submitter peroxisome biogenesis disorder
p.Phe40Tyr Single submitter peroxisome biogenesis disorder ⚠
p.Pro139Ser Single submitter ⚠
p.Pro140Ala Single submitter peroxisome biogenesis disorder ⚠
p.Pro140Thr Single submitter peroxisome biogenesis disorder ⚠
p.Pro143Gln Single submitter Inborn genetic diseases ⚠
p.Pro152Thr Single submitter peroxisome biogenesis disorder 8A (Zellweger) ⚠
p.Pro153= Single submitter peroxisome biogenesis disorder
p.Pro153Leu Single submitter peroxisome biogenesis disorder ⚠
p.Pro182Leu Single submitter peroxisome biogenesis disorder ⚠
p.Pro192Ser Single submitter peroxisome biogenesis disorder ⚠
p.Pro212Leu Single submitter peroxisome biogenesis disorder ⚠
p.Pro228Leu Single submitter ⚠
p.Pro245Leu Single submitter peroxisome biogenesis disorder ⚠
p.Pro319Leu Single submitter peroxisome biogenesis disorder
p.Ser165Tyr Single submitter peroxisome biogenesis disorder ⚠
p.Ser207Thr Single submitter PEX16-related disorder ⚠
p.Ser234Gly Single submitter peroxisome biogenesis disorder ⚠
p.Ser242Leu Single submitter peroxisome biogenesis disorder ⚠
p.Ser242Trp Single submitter peroxisome biogenesis disorder 8B ⚠
p.Ser261Arg Single submitter peroxisome biogenesis disorder ⚠
p.Ser288Thr Single submitter Inborn genetic diseases
p.Ser334Thr Single submitter peroxisome biogenesis disorder ⚠
p.Ser33Thr Single submitter peroxisome biogenesis disorder ⚠
p.Ser87Asn Single submitter Inborn genetic diseases ⚠
p.Thr148Ser Single submitter peroxisome biogenesis disorder ⚠
p.Thr181Met Single submitter PEX16-related disorder ⚠
p.Thr218Asn Single submitter peroxisome biogenesis disorder ⚠
p.Thr22Lys Single submitter peroxisome biogenesis disorder ⚠
p.Thr278Ala Single submitter peroxisome biogenesis disorder ⚠
p.Trp104Arg Single submitter peroxisome biogenesis disorder ⚠
p.Trp104Cys Single submitter Inborn genetic diseases
p.Trp130Ser Single submitter peroxisome biogenesis disorder ⚠
p.Trp238Cys Single submitter peroxisome biogenesis disorder due to PEX16 defect ⚠
p.Tyr291Asn Single submitter peroxisome biogenesis disorder 8B ⚠
p.Tyr333His Single submitter peroxisome biogenesis disorder
p.Val103Leu Single submitter peroxisome biogenesis disorder ⚠
p.Val107Met Single submitter peroxisome biogenesis disorder ⚠
p.Val112Ile Single submitter peroxisome biogenesis disorder ⚠
p.Val142Ile Single submitter peroxisome biogenesis disorder ⚠
p.Val251Ile Single submitter ⚠
p.Val254Met Single submitter peroxisome biogenesis disorder ⚠
p.Val29Gly Single submitter peroxisome biogenesis disorder
p.Val310Ile Single submitter peroxisome biogenesis disorder ⚠
p.Val58Met Single submitter peroxisome biogenesis disorder ⚠
p.Val88Leu Single submitter peroxisome biogenesis disorder ⚠
p.Val92Met Single submitter peroxisome biogenesis disorder ⚠
c.*127C>T No assertion criteria PEX16-related disorder
c.*86G>C No assertion criteria PEX16-related disorder