PEX7 — 711 ClinVar variants
All ClinVar germline PEX7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →
41 Pathogenic · 20 Pathogenic/Likely pathogenic · 73 Likely pathogenic · 30 Conflicting · 28 Benign · 9 Benign/Likely benign · 287 Likely benign · 223 Uncertain significance
Full PEX7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 174
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PEX7 p.Thr14Pro
Pathogenic/Likely pathogenic
Multiple submitters
rhizomelic chondrodysplasia punctata
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PEX7 p.Ala111Thr
Conflicting
Single submitter
Inborn genetic diseases
-
PEX7 p.Ala43Val
Conflicting
Single submitter
connective tissue disorder
-
PEX7 p.Arg232Gln
Conflicting
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Asn78Lys
Conflicting
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gln105His
Conflicting
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.His39Pro
Conflicting
Single submitter
rhizomelic chondrodysplasia punctata type 1
-
PEX7 p.Leu214Pro
Conflicting
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Ser25Phe
Conflicting
Single submitter
peroxisome biogenesis disorder 9B
Predictors lean, ClinVar uncertain 136
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PEX7 p.Ala172Pro
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Ala317Val
Uncertain significance
Multiple submitters
PEX7-related disorder
-
PEX7 p.Ala56Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Ala8Pro
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Arg13Gln
Uncertain significance
Multiple submitters
rhizomelic chondrodysplasia punctata type 1
-
PEX7 p.Arg246Lys
Uncertain significance
Multiple submitters
rhizomelic chondrodysplasia punctata type 1
-
PEX7 p.Arg59Ser
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Asp65Asn
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Asp65Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Asp68Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Gln105Lys
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Gln112Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Gln178His
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Glu80Lys
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Gly41Arg
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.His39Gln
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Ile245Val
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Ile321Val
Uncertain significance
Multiple submitters
connective tissue disorder
-
PEX7 p.Leu239Pro
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Leu296Phe
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Lys108Glu
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Phe61Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Pro26Leu
Uncertain significance
Multiple submitters
PEX7-related disorder
-
PEX7 p.Pro322Thr
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Ser156Asn
Uncertain significance
Multiple submitters
PEX7-related disorder
-
PEX7 p.Ser262Leu
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Ser306Phe
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Thr266Ile
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Thr36Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Thr97Ser
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Val106Leu
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Val128Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Val185Ala
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Val190Ile
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Val257Met
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Ala22Val
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Ala244Thr
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Ala323Asp
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Ala56Ser Uncertain significance Single submitter
-
PEX7 p.Ala8Glu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Ala9Pro Uncertain significance Single submitter
-
PEX7 p.Ala9Val
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Arg17Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Arg181Ile
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Arg246Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Arg247Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Arg268Thr
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Asn210Ser
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Asn67Ser Uncertain significance Single submitter
-
PEX7 p.Asn79Ser
Uncertain significance
Single submitter
connective tissue disorder
- PEX7 p.Asp134Val Uncertain significance Single submitter
-
PEX7 p.Asp177Gly
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Asp184Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Asp220Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Asp293Glu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Asp96Asn
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Cys204Tyr
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Cys207Ser
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Cys261Tyr
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Cys34Arg Uncertain significance Single submitter
-
PEX7 p.Cys34Gly
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Cys45Tyr
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Cys86Phe
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gln105Glu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gln178Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gln178Lys
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gln38Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Glu125Lys
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Glu23Gln
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Glu283Ala
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Gly217Glu Uncertain significance Single submitter
-
PEX7 p.Gly41Asp
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gly41Cys
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gly41Ser
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gly6Ala
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gly7Glu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.His110Gln
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.His166Tyr
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.His18Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.His197Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.His39Asn
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.His81Tyr Uncertain significance Single submitter
-
PEX7 p.Ile162Val
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Ile245Phe
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Ile311Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX7 p.Ile321Phe Uncertain significance Single submitter
- PEX7 p.Ile50Met Uncertain significance Single submitter
-
PEX7 p.Ile50Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Leu148Val
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Leu180Pro
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Leu32Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Leu92Pro
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Lys138Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Lys312Glu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Lys99Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Phe24Leu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Phe294Leu Uncertain significance Single submitter
-
PEX7 p.Phe71Ser
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Pro165His
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Pro26Ala
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Pro26Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Pro29Ala
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Pro53Gln Uncertain significance Single submitter
-
PEX7 p.Ser116Ile
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Ser130Phe Uncertain significance Single submitter
-
PEX7 p.Ser164Pro
Uncertain significance
Single submitter
rhizomelic chondrodysplasia punctata type 1
- PEX7 p.Ser222Asn Uncertain significance Single submitter
-
PEX7 p.Ser222Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Ser260Thr
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Ser277Cys
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Thr14Met
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Thr150Ser
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Thr266Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX7 p.Thr36Ser Uncertain significance Single submitter
- PEX7 p.Thr85Ile Uncertain significance Single submitter
-
PEX7 p.Trp140Leu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Trp206Cys
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Trp75Cys
Uncertain significance
Single submitter
rhizomelic chondrodysplasia punctata type 1
-
PEX7 p.Tyr107Cys
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Tyr40Cys Uncertain significance Single submitter
-
PEX7 p.Val106Ile
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Val128Met
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Val235Ala
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Val82Ile
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Ala188Thr
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Asp134Tyr
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Cys45Phe
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Gly41Val
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 1
-
PEX7 p.Gly7Ala
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.His254Tyr
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 1
-
PEX7 p.Ile313Val
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Pro168Ala
Uncertain significance
No assertion criteria
PEX7-related disorder
-
PEX7 p.Ser156Gly
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Val117Ile
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Val219Ile
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Val302Ala
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
Predictors split 29
The independent predictors disagree with each other — read with care.
-
PEX7 p.Ala218Val
Pathogenic/Likely pathogenic
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Leu278Phe
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Pro15Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Pro29Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Trp95Gly
Pathogenic
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Tyr314Cys
Uncertain significance
Multiple submitters
peroxisome biogenesis disorder 9B
-
PEX7 p.Val193Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PEX7 p.Val267Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PEX7 p.Ala22Pro Uncertain significance Single submitter
-
PEX7 p.Ala259Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PEX7 p.Ala9Glu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Arg10Trp
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Arg246Met
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Arg62Gly
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Asp304Val
Conflicting
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Cys170Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gln93Arg
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Gly153Ser
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Leu180Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PEX7 p.Phe250Leu Uncertain significance Single submitter
- PEX7 p.Phe269Leu Uncertain significance Single submitter
-
PEX7 p.Ser116Gly
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Ser295Gly
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
- PEX7 p.Ser295Thr Uncertain significance Single submitter
-
PEX7 p.Ser91Leu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Trp163Cys
Uncertain significance
Single submitter
peroxisome biogenesis disorder 9B
-
PEX7 p.Phe151Leu
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Phe272Leu
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
PEX7 p.Thr150Ile
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 1
All PEX7 variants
Pathogenic 41
- c.130+1G>A Multiple submitters PEX7-related disorder
- c.903+1G>C Multiple submitters peroxisome biogenesis disorder 9B
- p.Arg232Ter Multiple submitters rhizomelic chondrodysplasia punctata
- p.Gln112Ter Multiple submitters peroxisome biogenesis disorder 9B
- p.Gly176fs Multiple submitters peroxisome biogenesis disorder
- p.Gly7fs Multiple submitters rhizomelic chondrodysplasia punctata
- p.Leu292Ter Multiple submitters PEX7-related disorder
- p.Phe71fs Multiple submitters peroxisome biogenesis disorder 9B
- p.Trp95Gly Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Tyr115Ter Multiple submitters rhizomelic chondrodysplasia punctata
- p.Tyr40Ter Multiple submitters PEX7-related disorder
- c.130+2T>G Single submitter peroxisome biogenesis disorder 9B
- c.339+2T>C Single submitter rhizomelic chondrodysplasia punctata type 1
- c.804-2A>G Single submitter rhizomelic chondrodysplasia punctata
- c.901_903+3delinsAG Single submitter rhizomelic chondrodysplasia punctata
- c.903+2T>G Single submitter rhizomelic chondrodysplasia punctata
- p.Ala218fs Single submitter peroxisome biogenesis disorder 9B
- p.Ala8fs Single submitter peroxisome biogenesis disorder 9B
- p.Arg181fs Single submitter peroxisome biogenesis disorder 9B
- p.Cys170fs Single submitter peroxisome biogenesis disorder 9B
- p.Cys290_Gly291insTer Single submitter peroxisome biogenesis disorder 9B
- p.Cys5fs Single submitter peroxisome biogenesis disorder 9B
- p.Gln105fs Single submitter peroxisome biogenesis disorder 9B
- p.Gln38fs Single submitter peroxisome biogenesis disorder 9B
- p.Gln38Ter Single submitter peroxisome biogenesis disorder 9B
- p.Glu23fs Single submitter peroxisome biogenesis disorder 9B
- p.Glu287fs Single submitter peroxisome biogenesis disorder 9B
- p.Gly124_Ser132del Single submitter peroxisome biogenesis disorder 9B
- p.His18fs Single submitter peroxisome biogenesis disorder 9B
- p.Ile182fs Single submitter peroxisome biogenesis disorder 9B
- p.Ile84fs Single submitter peroxisome biogenesis disorder 9B
- p.Phe24fs Single submitter peroxisome biogenesis disorder 9B
- p.Ser251fs Single submitter peroxisome biogenesis disorder 9B
- p.Ser273Ter Single submitter peroxisome biogenesis disorder 9B
- p.Thr122fs Single submitter peroxisome biogenesis disorder 9B
- p.Thr179_Leu180insTer Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Thr97fs Single submitter peroxisome biogenesis disorder 9B
- p.Trp119Ter Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Tyr20fs Single submitter peroxisome biogenesis disorder 9B
- p.Val4fs Single submitter peroxisome biogenesis disorder 9B
- p.Ala100fs No assertion criteria rhizomelic chondrodysplasia punctata type 1
Pathogenic/Likely pathogenic 20
- c.188+1G>A Multiple submitters rhizomelic chondrodysplasia punctata type 1
- c.188+1G>C Multiple submitters rhizomelic chondrodysplasia punctata
- c.634-2A>G Multiple submitters peroxisome biogenesis disorder 9B
- c.804-2A>C Multiple submitters peroxisome biogenesis disorder 9B
- p.Ala218Val Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Asp134Asn Multiple submitters rhizomelic chondrodysplasia punctata
- p.Gln126Ter Multiple submitters peroxisome biogenesis disorder 9B
- p.Gln198Ter Multiple submitters rhizomelic chondrodysplasia punctata type 1
- p.Gln93Ter Multiple submitters connective tissue disorder
- p.Gly217Arg Multiple submitters PEX7-related disorder
- p.His285Arg Multiple submitters peroxisome biogenesis disorder 9B
- p.Phe61fs Multiple submitters rhizomelic chondrodysplasia punctata
- p.Ser173fs Multiple submitters peroxisome biogenesis disorder 9B
- p.Thr14Pro Multiple submitters rhizomelic chondrodysplasia punctata ⚠
- p.Trp163Ter Multiple submitters peroxisome biogenesis disorder 9B
- p.Trp183Ter Multiple submitters peroxisome biogenesis disorder 9B
- p.Trp206Ter Multiple submitters PEX7-related disorder
- p.Trp226Ter Multiple submitters rhizomelic chondrodysplasia punctata
- p.Tyr159fs Multiple submitters rhizomelic chondrodysplasia punctata
- p.Val144fs Multiple submitters rhizomelic chondrodysplasia punctata
Likely pathogenic 73
- c.116_130+20del Multiple submitters peroxisome biogenesis disorder 9B
- c.131-1G>A Multiple submitters PEX7-related disorder
- c.340-1G>T Multiple submitters peroxisome biogenesis disorder 9B
- c.363_526+230del Multiple submitters peroxisome biogenesis disorder 9B
- c.748-2A>G Multiple submitters peroxisome biogenesis disorder 9B
- c.803+1G>A Multiple submitters peroxisome biogenesis disorder 9B
- p.Cys170del Multiple submitters rhizomelic chondrodysplasia punctata
- p.Cys86Tyr Multiple submitters peroxisome biogenesis disorder 9B
- p.Glu211fs Multiple submitters rhizomelic chondrodysplasia punctata type 1
- p.Ile158fs Multiple submitters rhizomelic chondrodysplasia punctata
- p.Leu70fs Multiple submitters peroxisome biogenesis disorder 9B
- c.130+3G>C Single submitter peroxisome biogenesis disorder 9B
- c.188+1del Single submitter rhizomelic chondrodysplasia punctata type 1
- c.188+2del Single submitter peroxisome biogenesis disorder 9B
- c.189-2A>G Single submitter peroxisome biogenesis disorder 9B
- c.339+1G>A Single submitter peroxisome biogenesis disorder 9B
- c.418-1G>A Single submitter rhizomelic chondrodysplasia punctata type 1
- c.418-1G>C Single submitter peroxisome biogenesis disorder 9B
- c.418-2A>G Single submitter peroxisome biogenesis disorder 9B
- c.633+1G>A Single submitter peroxisome biogenesis disorder 9B
- c.736_747+17del Single submitter peroxisome biogenesis disorder 9B
- c.747+1G>A Single submitter peroxisome biogenesis disorder 9B
- c.747+2T>A Single submitter peroxisome biogenesis disorder 9B
- c.803+1G>C Single submitter peroxisome biogenesis disorder 9B
- c.-45C>T Single submitter peroxisome biogenesis disorder 9B
- p.Ala9fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Arg152fs Single submitter peroxisome biogenesis disorder 9B
- p.Arg152Ter Single submitter rhizomelic chondrodysplasia punctata
- p.Arg246Ter Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Asn78fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Asp177Glu Single submitter Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata
- p.Asp308Tyr Single submitter
- p.Cys204Ter Single submitter peroxisome biogenesis disorder 9B
- p.Cys207fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Gln121Ter Single submitter peroxisome biogenesis disorder 9B
- p.Glu155Ter Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Gly16fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Gly16Ter Single submitter PEX7-related disorder
- p.Gly240fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Gly41fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Gly69fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Gly7Ter Single submitter rhizomelic chondrodysplasia punctata
- p.Leu180fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Leu213fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Leu223Ter Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Leu228fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Leu279fs Single submitter rhizomelic chondrodysplasia punctata
- p.Leu70Ter Single submitter PEX7-related disorder
- p.Leu70Trp Single submitter Abnormality of metabolism/homeostasis
- p.Lys108fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Lys208Ter Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Lys249fs Single submitter peroxisome biogenesis disorder 9B
- p.Phe171fs Single submitter peroxisome biogenesis disorder 9B
- p.Phe288fs Single submitter rhizomelic chondrodysplasia punctata
- p.Pro168fs Single submitter peroxisome biogenesis disorder 9B
- p.Ser63fs Single submitter PEX7-related disorder
- p.Ser87fs Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Trp133Ter Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Trp75Ter Single submitter peroxisome biogenesis disorder 9B
- p.Trp95Ter Single submitter peroxisome biogenesis disorder 9B
- p.Tyr107_Lys108delinsTer Single submitter peroxisome biogenesis disorder 9B
- p.Tyr20Ter Single submitter peroxisome biogenesis disorder 9B
- p.Val73fs Single submitter rhizomelic chondrodysplasia punctata
- c.130+1G>C No assertion criteria rhizomelic chondrodysplasia punctata type 1
- c.131-2A>G No assertion criteria rhizomelic chondrodysplasia punctata type 1
- c.527-2A>G No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Ala259fs No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Glu125Ter No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Met11fs No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Ser273fs No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Trp183fs No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Trp270fs No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Tyr27Ter No assertion criteria rhizomelic chondrodysplasia punctata type 1
Conflicting classifications of pathogenicity 30
- c.130+10C>A Single submitter peroxisome biogenesis disorder 9B
- c.130+11G>T Single submitter peroxisome biogenesis disorder 9B
- c.130+13C>A Single submitter peroxisome biogenesis disorder 9B
- c.339+10A>C Single submitter peroxisome biogenesis disorder 9B
- c.339+10A>G Single submitter peroxisome biogenesis disorder 9B
- c.340-10A>G Single submitter PEX7-related disorder
- c.418-4G>A Single submitter peroxisome biogenesis disorder 9B
- c.418-4G>T Single submitter peroxisome biogenesis disorder 9B
- c.748-10T>C Single submitter peroxisome biogenesis disorder 9B
- c.804-5C>T Single submitter peroxisome biogenesis disorder 9B
- c.903+8A>G Single submitter peroxisome biogenesis disorder 9B
- c.*272A>G Single submitter peroxisome biogenesis disorder 9B
- c.*38G>A Single submitter peroxisome biogenesis disorder 9B
- p.Ala111Thr Single submitter Inborn genetic diseases ⚠
- p.Ala43Val Single submitter connective tissue disorder ⚠
- p.Arg232Gln Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Asn210= Single submitter peroxisome biogenesis disorder 9B
- p.Asn78Lys Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Asp205= Single submitter peroxisome biogenesis disorder 9B
- p.Asp304Val Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Cys290_Gly291insGln Single submitter peroxisome biogenesis disorder 9B
- p.Gln105His Single submitter peroxisome biogenesis disorder 9B ⚠
- p.His110= Single submitter Inborn genetic diseases
- p.His39Pro Single submitter rhizomelic chondrodysplasia punctata type 1 ⚠
- p.Ile192= Single submitter peroxisome biogenesis disorder 9B
- p.Leu214Pro Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Leu32= Single submitter peroxisome biogenesis disorder 9B
- p.Ser25Phe Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Thr281= Single submitter Inborn genetic diseases
- p.Thr289= Single submitter peroxisome biogenesis disorder 9B
Benign 28
- c.130+48_130+53dup Multiple submitters rhizomelic chondrodysplasia punctata type 1
- c.340-71G>A Multiple submitters rhizomelic chondrodysplasia punctata type 1
- c.747+20_747+24del Multiple submitters peroxisome biogenesis disorder 9B
- c.748-5del Multiple submitters peroxisome biogenesis disorder 9B
- c.803+105A>C Multiple submitters rhizomelic chondrodysplasia punctata type 1
- c.-95T>C Multiple submitters peroxisome biogenesis disorder 9B
- c.*306T>G Multiple submitters peroxisome biogenesis disorder 9B
- c.130+285G>C Single submitter
- c.130+94T>C Single submitter
- c.131-9del Single submitter peroxisome biogenesis disorder 9B
- c.131-9dup Single submitter peroxisome biogenesis disorder 9B
- c.339+166G>A Single submitter
- c.340-282G>A Single submitter
- c.417+147G>A Single submitter
- c.526+126T>C Single submitter
- c.527-124G>A Single submitter
- c.527-159T>A Single submitter
- c.527-189G>A Single submitter
- c.527-6dup Single submitter peroxisome biogenesis disorder 9B
- c.634-152C>T Single submitter
- c.747+17del Single submitter peroxisome biogenesis disorder 9B
- c.747+259A>T Single submitter
- c.748-205AT[3] Single submitter
- c.803+163C>T Single submitter
- c.803+45A>G Single submitter
- c.904-10del Single submitter peroxisome biogenesis disorder 9B
- c.*257_*258insAGT Single submitter
- c.*407del Single submitter
Benign/Likely benign 9
- c.340-103A>G Multiple submitters peroxisome biogenesis disorder 9B
- c.526+14T>C Multiple submitters peroxisome biogenesis disorder 9B
- c.748-16C>T Multiple submitters peroxisome biogenesis disorder 9B
- c.748-5dup Multiple submitters connective tissue disorder
- c.748-6_748-5dup Multiple submitters peroxisome biogenesis disorder 9B
- c.-31G>A Multiple submitters peroxisome biogenesis disorder 9B
- c.-56C>T Multiple submitters peroxisome biogenesis disorder 9B
- c.-65A>T Multiple submitters peroxisome biogenesis disorder 9B
- p.Gln126Pro Multiple submitters connective tissue disorder
Likely benign 287
- c.130+11G>A Multiple submitters peroxisome biogenesis disorder 9B
- c.131-169A>G Multiple submitters
- c.131-8C>G Multiple submitters peroxisome biogenesis disorder 9B
- c.339+108C>T Multiple submitters
- c.339+17T>C Multiple submitters peroxisome biogenesis disorder 9B
- c.339+84A>G Multiple submitters
- c.417+9G>A Multiple submitters peroxisome biogenesis disorder 9B
- c.418-16A>G Multiple submitters peroxisome biogenesis disorder 9B
- c.526+19A>G Multiple submitters peroxisome biogenesis disorder 9B
- c.526+207A>G Multiple submitters
- c.527-12C>G Multiple submitters peroxisome biogenesis disorder 9B
- c.527-97G>T Multiple submitters
- c.747+11A>G Multiple submitters peroxisome biogenesis disorder 9B
- c.804-19C>T Multiple submitters peroxisome biogenesis disorder 9B
- c.903+13A>G Multiple submitters peroxisome biogenesis disorder 9B
- c.903+7G>T Multiple submitters peroxisome biogenesis disorder 9B
- p.Ala21= Multiple submitters peroxisome biogenesis disorder 9B
- p.Ala22= Multiple submitters peroxisome biogenesis disorder 9B
- p.Asn230= Multiple submitters Inborn genetic diseases
- p.Asn79= Multiple submitters peroxisome biogenesis disorder 9B
- p.Asp72= Multiple submitters peroxisome biogenesis disorder 9B
- p.Cys86= Multiple submitters peroxisome biogenesis disorder 9B
- p.Gln105= Multiple submitters peroxisome biogenesis disorder 9B
- p.Gly7= Multiple submitters peroxisome biogenesis disorder 9B
- p.Gly88= Multiple submitters Inborn genetic diseases
- p.Lys99= Multiple submitters peroxisome biogenesis disorder 9B
- p.Ser260= Multiple submitters peroxisome biogenesis disorder 9B
- p.Ter324= Multiple submitters peroxisome biogenesis disorder 9B
- p.Thr242= Multiple submitters peroxisome biogenesis disorder 9B
- p.Tyr20= Multiple submitters Inborn genetic diseases
- p.Val190= Multiple submitters peroxisome biogenesis disorder 9B
- c.130+10_130+36dup Single submitter peroxisome biogenesis disorder 9B
- c.130+10CGC[3] Single submitter peroxisome biogenesis disorder 9B
- c.130+10dup Single submitter peroxisome biogenesis disorder 9B
- c.130+11_130+12del Single submitter peroxisome biogenesis disorder 9B
- c.130+12C>T Single submitter peroxisome biogenesis disorder 9B
- c.130+13C>G Single submitter peroxisome biogenesis disorder 9B
- c.130+13C>T Single submitter peroxisome biogenesis disorder 9B
- c.130+15C>G Single submitter peroxisome biogenesis disorder 9B
- c.130+15C>T Single submitter peroxisome biogenesis disorder 9B
- c.130+16G>C Single submitter peroxisome biogenesis disorder 9B
- c.130+16G>T Single submitter peroxisome biogenesis disorder 9B
- c.130+17C>T Single submitter
- c.130+20C>T Single submitter peroxisome biogenesis disorder 9B
- c.130+7C>G Single submitter peroxisome biogenesis disorder 9B
- c.130+7C>T Single submitter peroxisome biogenesis disorder 9B
- c.130+8G>A Single submitter peroxisome biogenesis disorder 9B
- c.130+8G>C Single submitter peroxisome biogenesis disorder 9B
- c.130+9G>A Single submitter peroxisome biogenesis disorder 9B
- c.130+9G>C Single submitter peroxisome biogenesis disorder 9B
- c.131-10T>C Single submitter peroxisome biogenesis disorder 9B
- c.131-13T>A Single submitter peroxisome biogenesis disorder 9B
- c.131-16T>C Single submitter peroxisome biogenesis disorder 9B
- c.131-4_131-3del Single submitter peroxisome biogenesis disorder 9B
- c.131-6C>G Single submitter peroxisome biogenesis disorder 9B
- c.131-7T>A Single submitter peroxisome biogenesis disorder 9B
- c.131-8C>T Single submitter peroxisome biogenesis disorder 9B
- c.188+253C>T Single submitter
- c.188+8G>A Single submitter peroxisome biogenesis disorder 9B
- c.189-10C>T Single submitter peroxisome biogenesis disorder 9B
- c.189-16T>A Single submitter peroxisome biogenesis disorder 9B
- c.189-17G>A Single submitter peroxisome biogenesis disorder 9B
- c.189-20T>C Single submitter peroxisome biogenesis disorder 9B
- c.189-4G>A Single submitter peroxisome biogenesis disorder 9B
- c.189-7A>G Single submitter peroxisome biogenesis disorder 9B
- c.189-8T>A Single submitter peroxisome biogenesis disorder 9B
- c.189-9C>T Single submitter peroxisome biogenesis disorder 9B
- c.339+14C>A Single submitter peroxisome biogenesis disorder 9B
- c.339+15T>A Single submitter peroxisome biogenesis disorder 9B
- c.339+19T>C Single submitter peroxisome biogenesis disorder 9B
- c.339+20G>A Single submitter peroxisome biogenesis disorder 9B
- c.339+9G>C Single submitter peroxisome biogenesis disorder 9B
- c.340-12C>A Single submitter peroxisome biogenesis disorder 9B
- c.340-13T>C Single submitter peroxisome biogenesis disorder 9B
- c.340-14T>C Single submitter peroxisome biogenesis disorder 9B
- c.340-4T>G Single submitter peroxisome biogenesis disorder 9B
- c.340-8G>A Single submitter peroxisome biogenesis disorder 9B
- c.340-9T>C Single submitter peroxisome biogenesis disorder 9B
- c.417+19A>G Single submitter peroxisome biogenesis disorder 9B
- c.417+7T>C Single submitter peroxisome biogenesis disorder 9B
- c.417+8A>G Single submitter peroxisome biogenesis disorder 9B
- c.418-10T>C Single submitter peroxisome biogenesis disorder 9B
- c.418-15T>A Single submitter peroxisome biogenesis disorder 9B
- c.418-16A>C Single submitter peroxisome biogenesis disorder 9B
- c.418-18C>G Single submitter peroxisome biogenesis disorder 9B
- c.418-18C>T Single submitter peroxisome biogenesis disorder 9B
- c.526+12T>C Single submitter peroxisome biogenesis disorder 9B
- c.526+15A>G Single submitter peroxisome biogenesis disorder 9B
- c.526+75G>A Single submitter
- c.526+7T>A Single submitter peroxisome biogenesis disorder 9B
- c.526+8A>T Single submitter peroxisome biogenesis disorder 9B
- c.526+9T>C Single submitter peroxisome biogenesis disorder 9B
- c.527-11C>G Single submitter peroxisome biogenesis disorder 9B
- c.527-11C>T Single submitter peroxisome biogenesis disorder 9B
- c.527-15C>T Single submitter peroxisome biogenesis disorder 9B
- c.527-17G>A Single submitter peroxisome biogenesis disorder 9B
- c.527-5A>G Single submitter peroxisome biogenesis disorder 9B
- c.527-6T>C Single submitter peroxisome biogenesis disorder 9B
- c.633+11T>G Single submitter peroxisome biogenesis disorder 9B
- c.633+15del Single submitter peroxisome biogenesis disorder 9B
- c.633+16C>T Single submitter peroxisome biogenesis disorder 9B
- c.633+17T>C Single submitter peroxisome biogenesis disorder 9B
- c.633+18A>G Single submitter peroxisome biogenesis disorder 9B
- c.633+20C>T Single submitter peroxisome biogenesis disorder 9B
- c.633+5_633+8dup Single submitter peroxisome biogenesis disorder 9B
- c.633+7T>C Single submitter peroxisome biogenesis disorder 9B
- c.633+8G>A Single submitter peroxisome biogenesis disorder 9B
- c.634-13G>C Single submitter peroxisome biogenesis disorder 9B
- c.634-16T>G Single submitter peroxisome biogenesis disorder 9B
- c.634-4_634-3del Single submitter peroxisome biogenesis disorder 9B
- c.634-7T>C Single submitter peroxisome biogenesis disorder 9B
- c.634-8G>A Single submitter peroxisome biogenesis disorder 9B
- c.634-8G>C Single submitter peroxisome biogenesis disorder 9B
- c.634-9T>C Single submitter peroxisome biogenesis disorder 9B
- c.747+10C>T Single submitter peroxisome biogenesis disorder 9B
- c.747+11A>T Single submitter peroxisome biogenesis disorder 9B
- c.747+15T>C Single submitter peroxisome biogenesis disorder 9B
- c.747+18C>T Single submitter peroxisome biogenesis disorder 9B
- c.748-13T>C Single submitter peroxisome biogenesis disorder 9B
- c.748-14T>A Single submitter peroxisome biogenesis disorder 9B
- c.748-14T>C Single submitter peroxisome biogenesis disorder 9B
- c.748-15T>C Single submitter peroxisome biogenesis disorder 9B
- c.748-16_748-14del Single submitter peroxisome biogenesis disorder 9B
- c.748-16_748-15del Single submitter peroxisome biogenesis disorder 9B
- c.748-16C>A Single submitter peroxisome biogenesis disorder 9B
- c.748-16del Single submitter
- c.748-17del Single submitter
- c.748-17T>C Single submitter peroxisome biogenesis disorder 9B
- c.748-4G>T Single submitter peroxisome biogenesis disorder 9B
- c.748-6T>G Single submitter peroxisome biogenesis disorder 9B
- c.748-9T>C Single submitter peroxisome biogenesis disorder 9B
- c.748-9T>G Single submitter peroxisome biogenesis disorder 9B
- c.803+14dup Single submitter peroxisome biogenesis disorder 9B
- c.803+19C>A Single submitter peroxisome biogenesis disorder 9B
- c.803+20A>C Single submitter peroxisome biogenesis disorder 9B
- c.803+9_803+10del Single submitter peroxisome biogenesis disorder 9B
- c.803+9G>A Single submitter peroxisome biogenesis disorder 9B
- c.804-10A>G Single submitter peroxisome biogenesis disorder 9B
- c.804-11T>C Single submitter peroxisome biogenesis disorder 9B
- c.804-12T>C Single submitter peroxisome biogenesis disorder 9B
- c.804-14A>G Single submitter peroxisome biogenesis disorder 9B
- c.804-197dup Single submitter
- c.804-8C>G Single submitter peroxisome biogenesis disorder 9B
- c.804-9T>C Single submitter peroxisome biogenesis disorder 9B
- c.903+10A>G Single submitter peroxisome biogenesis disorder 9B
- c.903+10A>T Single submitter peroxisome biogenesis disorder 9B
- c.903+12A>G Single submitter peroxisome biogenesis disorder 9B
- c.903+17C>G Single submitter peroxisome biogenesis disorder 9B
- c.903+20G>A Single submitter peroxisome biogenesis disorder 9B
- c.903+8A>T Single submitter peroxisome biogenesis disorder 9B
- c.904-16C>T Single submitter peroxisome biogenesis disorder 9B
- c.904-184G>A Single submitter
- c.904-19_904-15del Single submitter peroxisome biogenesis disorder 9B
- c.904-20_904-17del Single submitter peroxisome biogenesis disorder 9B
- c.904-4C>G Single submitter peroxisome biogenesis disorder 9B
- c.904-9G>A Single submitter peroxisome biogenesis disorder 9B
- c.-32C>G Single submitter
- c.-44G>A Single submitter
- c.*115A>G Single submitter peroxisome biogenesis disorder 9B
- p.Ala100= Single submitter peroxisome biogenesis disorder 9B
- p.Ala172= Single submitter peroxisome biogenesis disorder 9B
- p.Ala187= Single submitter peroxisome biogenesis disorder 9B
- p.Ala188= Single submitter peroxisome biogenesis disorder 9B
- p.Ala199= Single submitter peroxisome biogenesis disorder 9B
- p.Ala255= Single submitter peroxisome biogenesis disorder 9B
- p.Ala259= Single submitter peroxisome biogenesis disorder 9B
- p.Ala3= Single submitter peroxisome biogenesis disorder 9B
- p.Ala317= Single submitter peroxisome biogenesis disorder 9B
- p.Ala323= Single submitter peroxisome biogenesis disorder 9B
- p.Ala35= Single submitter peroxisome biogenesis disorder 9B
- p.Ala37= Single submitter peroxisome biogenesis disorder 9B
- p.Ala56= Single submitter peroxisome biogenesis disorder 9B
- p.Ala8= Single submitter peroxisome biogenesis disorder 9B
- p.Ala9= Single submitter peroxisome biogenesis disorder 9B
- p.Ala98= Single submitter peroxisome biogenesis disorder 9B
- p.Arg10= Single submitter peroxisome biogenesis disorder 9B
- p.Arg13= Single submitter peroxisome biogenesis disorder 9B
- p.Arg17= Single submitter peroxisome biogenesis disorder 9B
- p.Arg224= Single submitter peroxisome biogenesis disorder 9B
- p.Arg229= Single submitter peroxisome biogenesis disorder 9B
- p.Arg247= Single submitter peroxisome biogenesis disorder 9B
- p.Arg59= Single submitter peroxisome biogenesis disorder 9B
- p.Asn212= Single submitter peroxisome biogenesis disorder 9B
- p.Asn271= Single submitter peroxisome biogenesis disorder 9B
- p.Asn67= Single submitter peroxisome biogenesis disorder 9B
- p.Asp220= Single submitter
- p.Asp227= Single submitter peroxisome biogenesis disorder 9B
- p.Asp276= Single submitter peroxisome biogenesis disorder 9B
- p.Asp65= Single submitter peroxisome biogenesis disorder 9B
- p.Cys149= Single submitter peroxisome biogenesis disorder 9B
- p.Cys261= Single submitter peroxisome biogenesis disorder 9B
- p.Cys290= Single submitter peroxisome biogenesis disorder 9B
- p.Cys5= Single submitter peroxisome biogenesis disorder 9B
- p.Gln112= Single submitter peroxisome biogenesis disorder 9B
- p.Gln233= Single submitter peroxisome biogenesis disorder 9B
- p.Gln93= Single submitter peroxisome biogenesis disorder 9B
- p.Glu109= Single submitter peroxisome biogenesis disorder 9B
- p.Glu155= Single submitter peroxisome biogenesis disorder 9B
- p.Glu23= Single submitter peroxisome biogenesis disorder 9B
- p.Glu283= Single submitter peroxisome biogenesis disorder 9B
- p.Glu287= Single submitter peroxisome biogenesis disorder 9B
- p.Glu80= Single submitter peroxisome biogenesis disorder 9B
- p.Gly131= Single submitter peroxisome biogenesis disorder 9B
- p.Gly153= Single submitter peroxisome biogenesis disorder 9B
- p.Gly16= Single submitter peroxisome biogenesis disorder 9B
- p.Gly169= Single submitter peroxisome biogenesis disorder 9B
- p.Gly19= Single submitter peroxisome biogenesis disorder 9B
- p.Gly30= Single submitter peroxisome biogenesis disorder 9B
- p.Gly41= Single submitter peroxisome biogenesis disorder 9B
- p.Gly44= Single submitter peroxisome biogenesis disorder 9B
- p.Gly46= Single submitter peroxisome biogenesis disorder 9B
- p.Gly57= Single submitter peroxisome biogenesis disorder 9B
- p.Gly6= Single submitter peroxisome biogenesis disorder 9B
- p.His154= Single submitter peroxisome biogenesis disorder 9B
- p.His166= Single submitter peroxisome biogenesis disorder 9B
- p.His18= Single submitter peroxisome biogenesis disorder 9B
- p.His285= Single submitter peroxisome biogenesis disorder 9B
- p.His39= Single submitter peroxisome biogenesis disorder 9B
- p.His81= Single submitter peroxisome biogenesis disorder 9B
- p.Ile162= Single submitter peroxisome biogenesis disorder 9B
- p.Ile42= Single submitter peroxisome biogenesis disorder 9B
- p.Leu104= Single submitter peroxisome biogenesis disorder 9B
- p.Leu12= Single submitter peroxisome biogenesis disorder 9B
- p.Leu148= Single submitter peroxisome biogenesis disorder 9B
- p.Leu213= Single submitter peroxisome biogenesis disorder 9B
- p.Leu214= Single submitter peroxisome biogenesis disorder 9B
- p.Leu239= Single submitter peroxisome biogenesis disorder 9B
- p.Leu258= Single submitter peroxisome biogenesis disorder 9B
- p.Leu28= Single submitter peroxisome biogenesis disorder 9B
- p.Leu292= Single submitter peroxisome biogenesis disorder 9B
- p.Leu319= Single submitter peroxisome biogenesis disorder 9B
- p.Leu48= Single submitter peroxisome biogenesis disorder 9B
- p.Leu51= Single submitter peroxisome biogenesis disorder 9B
- p.Leu58= Single submitter peroxisome biogenesis disorder 9B
- p.Leu70= Single submitter peroxisome biogenesis disorder 9B
- p.Leu83= Single submitter peroxisome biogenesis disorder 9B
- p.Leu94= Single submitter
- p.Lys108= Single submitter peroxisome biogenesis disorder 9B
- p.Lys186= Single submitter peroxisome biogenesis disorder 9B
- p.Lys274= Single submitter peroxisome biogenesis disorder 9B
- p.Phe171= Single submitter peroxisome biogenesis disorder 9B
- p.Phe24= Single submitter peroxisome biogenesis disorder 9B
- p.Phe253= Single submitter peroxisome biogenesis disorder 9B
- p.Phe294= Single submitter peroxisome biogenesis disorder 9B
- p.Pro103= Single submitter peroxisome biogenesis disorder 9B
- p.Pro15= Single submitter peroxisome biogenesis disorder 9B
- p.Pro165= Single submitter peroxisome biogenesis disorder 9B
- p.Pro168= Single submitter peroxisome biogenesis disorder 9B
- p.Pro234= Single submitter peroxisome biogenesis disorder 9B
- p.Pro26= Single submitter peroxisome biogenesis disorder 9B
- p.Pro29= Single submitter peroxisome biogenesis disorder 9B
- p.Pro53= Single submitter peroxisome biogenesis disorder 9B
- p.Ser132= Single submitter peroxisome biogenesis disorder 9B
- p.Ser160= Single submitter peroxisome biogenesis disorder 9B
- p.Ser164= Single submitter peroxisome biogenesis disorder 9B
- p.Ser173= Single submitter peroxisome biogenesis disorder 9B
- p.Ser203= Single submitter peroxisome biogenesis disorder 9B
- p.Ser25= Single submitter peroxisome biogenesis disorder 9B
- p.Ser262= Single submitter peroxisome biogenesis disorder 9B
- p.Ser87= Single submitter peroxisome biogenesis disorder 9B
- p.Ser91= Single submitter peroxisome biogenesis disorder 9B
- p.Thr136= Single submitter peroxisome biogenesis disorder 9B
- p.Thr14= Single submitter peroxisome biogenesis disorder 9B
- p.Thr143= Single submitter peroxisome biogenesis disorder 9B
- p.Thr150= Single submitter peroxisome biogenesis disorder 9B
- p.Thr161= Single submitter
- p.Thr216= Single submitter peroxisome biogenesis disorder 9B
- p.Thr266= Single submitter peroxisome biogenesis disorder 9B
- p.Thr286= Single submitter peroxisome biogenesis disorder 9B
- p.Thr300= Single submitter peroxisome biogenesis disorder 9B
- p.Thr320= Single submitter peroxisome biogenesis disorder 9B
- p.Thr36= Single submitter peroxisome biogenesis disorder 9B
- p.Thr47= Single submitter peroxisome biogenesis disorder 9B
- p.Thr85= Single submitter peroxisome biogenesis disorder 9B
- p.Tyr159= Single submitter peroxisome biogenesis disorder 9B
- p.Tyr263= Single submitter peroxisome biogenesis disorder 9B
- p.Tyr27= Single submitter peroxisome biogenesis disorder 9B
- p.Tyr40= Single submitter peroxisome biogenesis disorder 9B
- p.Val129= Single submitter peroxisome biogenesis disorder 9B
- p.Val137= Single submitter peroxisome biogenesis disorder 9B
- p.Val235= Single submitter peroxisome biogenesis disorder 9B
- p.Val4= Single submitter peroxisome biogenesis disorder 9B
- p.Val82= Single submitter peroxisome biogenesis disorder 9B
- c.130+32_130+51del No assertion criteria rhizomelic chondrodysplasia punctata type 1
- c.748-6_748-5del No assertion criteria PEX7-related disorder
- c.-10G>T No assertion criteria PEX7-related disorder
- p.Tyr20Cys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 223
- c.188+3A>G Multiple submitters peroxisome biogenesis disorder
- c.803+4C>G Multiple submitters peroxisome biogenesis disorder 9B
- c.803+5A>G Multiple submitters peroxisome biogenesis disorder 9B
- c.903+5C>T Multiple submitters Inborn genetic diseases
- c.903+6G>A Multiple submitters peroxisome biogenesis disorder 9B
- p.Ala172Pro Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Ala317Val Multiple submitters PEX7-related disorder ⚠
- p.Ala43= Multiple submitters peroxisome biogenesis disorder 9B
- p.Ala56Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala8Pro Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Arg13Gln Multiple submitters rhizomelic chondrodysplasia punctata type 1 ⚠
- p.Arg246Lys Multiple submitters rhizomelic chondrodysplasia punctata type 1 ⚠
- p.Arg59Ser Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Asp65Asn Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Asp65Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp68Val Multiple submitters Inborn genetic diseases ⚠
- p.Gln105Lys Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Gln112Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln178His Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Glu80Lys Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Gly41Arg Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.His39Gln Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Ile245Val Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Ile321Val Multiple submitters connective tissue disorder ⚠
- p.Leu239Pro Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Leu278Phe Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Leu296Phe Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Lys108Glu Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Phe61Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro15Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro234Leu Multiple submitters peroxisome biogenesis disorder 9B
- p.Pro26Leu Multiple submitters PEX7-related disorder ⚠
- p.Pro29Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro316Ser Multiple submitters Inborn genetic diseases
- p.Pro322Thr Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Ser156Asn Multiple submitters PEX7-related disorder ⚠
- p.Ser262Leu Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Ser306Phe Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Thr266Ile Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Thr36Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr97Ser Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Tyr314Cys Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Val106Leu Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Val128Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val129Met Multiple submitters rhizomelic chondrodysplasia punctata type 1
- p.Val185Ala Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Val190Ile Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Val193Met Multiple submitters Inborn genetic diseases ⚠
- p.Val257Met Multiple submitters peroxisome biogenesis disorder 9B ⚠
- p.Val267Ala Multiple submitters Inborn genetic diseases ⚠
- c.130+3G>A Single submitter peroxisome biogenesis disorder 9B
- c.130+5G>A Single submitter peroxisome biogenesis disorder 9B
- c.130+6G>C Single submitter peroxisome biogenesis disorder 9B
- c.181_188+20dup Single submitter
- c.417+3A>G Single submitter peroxisome biogenesis disorder 9B
- c.418-3T>C Single submitter peroxisome biogenesis disorder 9B
- c.633+2TA[3] Single submitter rhizomelic chondrodysplasia punctata type 1
- c.633+3A>G Single submitter peroxisome biogenesis disorder 9B
- c.747+5G>A Single submitter peroxisome biogenesis disorder 9B
- c.803+5A>C Single submitter peroxisome biogenesis disorder 9B
- c.904-1G>A Single submitter rhizomelic chondrodysplasia punctata type 1
- c.-18C>T Single submitter peroxisome biogenesis disorder 9B
- c.-1G>A Single submitter
- c.-28G>A Single submitter rhizomelic chondrodysplasia punctata type 1
- c.-2G>A Single submitter
- c.-35G>A Single submitter peroxisome biogenesis disorder 9B
- c.-3G>A Single submitter peroxisome biogenesis disorder 9B
- c.-69C>A Single submitter peroxisome biogenesis disorder 9B
- c.*124A>G Single submitter peroxisome biogenesis disorder 9B
- c.*223T>A Single submitter peroxisome biogenesis disorder 9B
- c.*305C>A Single submitter peroxisome biogenesis disorder 9B
- c.*305C>T Single submitter peroxisome biogenesis disorder 9B
- c.*367T>C Single submitter rhizomelic chondrodysplasia punctata type 1
- p.Ala196Val Single submitter peroxisome biogenesis disorder 9B
- p.Ala218= Single submitter
- p.Ala22Pro Single submitter ⚠
- p.Ala22Val Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ala244Ser Single submitter peroxisome biogenesis disorder 9B
- p.Ala244Thr Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ala259Val Single submitter Inborn genetic diseases ⚠
- p.Ala323Asp Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ala56Ser Single submitter ⚠
- p.Ala8Glu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ala9Glu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ala9Pro Single submitter ⚠
- p.Ala9Val Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Arg10Trp Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Arg17Ser Single submitter Inborn genetic diseases ⚠
- p.Arg181Ile Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Arg246Gly Single submitter Inborn genetic diseases ⚠
- p.Arg246Met Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Arg247Lys Single submitter Inborn genetic diseases ⚠
- p.Arg268Thr Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Arg31Cys Single submitter peroxisome biogenesis disorder 9B
- p.Arg62Gly Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Asn210Ser Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Asn67Ser Single submitter ⚠
- p.Asn79Ser Single submitter connective tissue disorder ⚠
- p.Asp134Val Single submitter ⚠
- p.Asp141Glu Single submitter peroxisome biogenesis disorder 9B
- p.Asp177Gly Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Asp184Gly Single submitter Inborn genetic diseases ⚠
- p.Asp220Glu Single submitter Inborn genetic diseases ⚠
- p.Asp293Glu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Asp96Asn Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Cys170Arg Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Cys170Gly Single submitter peroxisome biogenesis disorder 9B
- p.Cys204Tyr Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Cys207Ser Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Cys261Tyr Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Cys34Arg Single submitter ⚠
- p.Cys34Gly Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Cys45Tyr Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Cys86Phe Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gln105Glu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gln178Arg Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gln178Lys Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gln38Arg Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gln93Arg Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Glu125Lys Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Glu23Gln Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Glu23Lys Single submitter
- p.Glu283Ala Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gly153Ser Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gly16Arg Single submitter peroxisome biogenesis disorder 9B
- p.Gly217Glu Single submitter ⚠
- p.Gly41Asp Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gly41Cys Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gly41Ser Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gly46Leu Single submitter peroxisome biogenesis disorder 9B
- p.Gly6Ala Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Gly7Glu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.His110Gln Single submitter peroxisome biogenesis disorder 9B ⚠
- p.His166Tyr Single submitter peroxisome biogenesis disorder 9B ⚠
- p.His18Arg Single submitter peroxisome biogenesis disorder 9B ⚠
- p.His197Arg Single submitter Inborn genetic diseases ⚠
- p.His254Pro Single submitter Inborn genetic diseases
- p.His39Arg Single submitter peroxisome biogenesis disorder 9B
- p.His39Asn Single submitter peroxisome biogenesis disorder 9B ⚠
- p.His81Tyr Single submitter ⚠
- p.Ile162Val Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ile245Phe Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ile311Val Single submitter Inborn genetic diseases ⚠
- p.Ile321Phe Single submitter ⚠
- p.Ile50Met Single submitter ⚠
- p.Ile50Thr Single submitter Inborn genetic diseases ⚠
- p.Leu148Val Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Leu180Met Single submitter Inborn genetic diseases ⚠
- p.Leu180Pro Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Leu32Val Single submitter Inborn genetic diseases ⚠
- p.Leu92Pro Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Lys138Arg Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Lys312Glu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Lys99Arg Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Phe24Leu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Phe250Leu Single submitter ⚠
- p.Phe269Leu Single submitter ⚠
- p.Phe294Leu Single submitter ⚠
- p.Phe71Ser Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Pro165His Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Pro26Ala Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Pro26Arg Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Pro29Ala Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Pro316fs Single submitter
- p.Pro53Gln Single submitter ⚠
- p.Ser116del Single submitter peroxisome biogenesis disorder 9B
- p.Ser116Gly Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ser116Ile Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ser130Phe Single submitter ⚠
- p.Ser164Pro Single submitter rhizomelic chondrodysplasia punctata type 1 ⚠
- p.Ser175= Single submitter peroxisome biogenesis disorder 9B
- p.Ser222Asn Single submitter ⚠
- p.Ser222Cys Single submitter Inborn genetic diseases ⚠
- p.Ser260Thr Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ser277Cys Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ser295Gly Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ser295Thr Single submitter ⚠
- p.Ser91Leu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Ter324Arg Single submitter peroxisome biogenesis disorder 9B
- p.Thr14_Pro15insLeuArgThr Single submitter peroxisome biogenesis disorder 9B
- p.Thr14Met Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Thr150Ser Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Thr266Ser Single submitter Inborn genetic diseases ⚠
- p.Thr36Ser Single submitter ⚠
- p.Thr85Ile Single submitter ⚠
- p.Trp140Leu Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Trp163Cys Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Trp206Cys Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Trp75Cys Single submitter rhizomelic chondrodysplasia punctata type 1 ⚠
- p.Tyr107Asn Single submitter peroxisome biogenesis disorder 9B
- p.Tyr107Cys Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Tyr40Cys Single submitter ⚠
- p.Val106Ile Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Val128Met Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Val235Ala Single submitter peroxisome biogenesis disorder 9B ⚠
- p.Val82Ile Single submitter peroxisome biogenesis disorder 9B ⚠
- c.-46_-38dup No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Ala188Thr No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Arg13_Pro15dup No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Asp134Tyr No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Cys45Phe No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Gln301Ter No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Glu77= No assertion criteria rhizomelic chondrodysplasia punctata
- p.Gly176Ser No assertion criteria rhizomelic chondrodysplasia punctata
- p.Gly240= No assertion criteria rhizomelic chondrodysplasia punctata
- p.Gly41Val No assertion criteria rhizomelic chondrodysplasia punctata type 1 ⚠
- p.Gly7Ala No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.His254Tyr No assertion criteria rhizomelic chondrodysplasia punctata type 1 ⚠
- p.Ile313Val No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Phe151Leu No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Phe272Leu No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Pro168Ala No assertion criteria PEX7-related disorder ⚠
- p.Ser156Gly No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Ser273= No assertion criteria rhizomelic chondrodysplasia punctata
- p.Ser306fs No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Ter324Gly No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Ter324Ser No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Thr150Ile No assertion criteria rhizomelic chondrodysplasia punctata type 1 ⚠
- p.Thr310_Ile311insTer No assertion criteria rhizomelic chondrodysplasia punctata type 1
- p.Val117Ile No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Val219Ile No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Val231= No assertion criteria rhizomelic chondrodysplasia punctata
- p.Val302Ala No assertion criteria rhizomelic chondrodysplasia punctata ⚠