PEX19 — 441 ClinVar variants

All ClinVar germline PEX19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 23 Conflicting · 14 Benign · 7 Benign/Likely benign · 152 Likely benign · 218 Uncertain significance

Full PEX19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 167

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.

PEX19 p.Ser54Leu Pathogenic Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)

Predictors agree, ClinVar conflicts 6

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

PEX19 p.Ala85Val Conflicting Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Asp166Glu Conflicting Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu6Lys Conflicting Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly293Ala Conflicting Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Pro39Ser Conflicting Single submitter
Inborn genetic diseases
PEX19 p.Ser223Gly Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 117

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

PEX19 p.Ala14Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Ala234Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala282Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala37Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Ala95Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Asp163Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Asp30Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Cys8Phe Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Cys8Tyr Uncertain significance Multiple submitters
PEX19-related disorder
PEX19 p.Gln122Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Gln123Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Gln72Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Glu158Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Glu5Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Glu6Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu88Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu63Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met162Thr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met162Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Pro39Ala Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Pro50His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Pro50Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Ser149Leu Uncertain significance Multiple submitters
PEX19-related disorder
PEX19 p.Ser286Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Ser286Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX19 p.Ser48Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Val224Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala111Thr Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Ala14Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala32Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala44Thr Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Ala4Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala4Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala65Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala85Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Arg16Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Arg53Lys Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Asn145Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Asp142His Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Asp15Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Asp166Val Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Asp253Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Asp281Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Asp57Asn Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Asp61Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Cys128Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gln176Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gln221Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gln231His Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Gln256Arg Uncertain significance Single submitter
PEX19 p.Gln295Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gln51Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gln67Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu13Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu17Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu19Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu201Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu23Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu267Val Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Glu6Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu88Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly11Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly159Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly169Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly262Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly270Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly287Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly290Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly293Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly56Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly7Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.His206Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.His263Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ile178Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu101Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu133Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu183Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu188Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu192Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu210Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu252Met Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu258Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu285Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Lys138Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Lys185Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Lys193Arg Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Lys198Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Lys33Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met119Val Uncertain significance Single submitter
PEX19 p.Met148Ile Uncertain significance Single submitter
PEX19 p.Met148Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met157Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met162Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met175Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met179Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met299Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Phe232Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Phe232Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Pro173Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Pro212Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Pro288Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Pro289Ser Uncertain significance Single submitter
PEX19 p.Pro50Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ser121Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ser177Arg Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Ser177Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ser205Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ser40Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ser9Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Thr132Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Thr154Ser Uncertain significance Single submitter
PEX19-related disorder
PEX19 p.Thr236Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Thr238Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Thr43Met Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Thr58Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Val102Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala44Pro Uncertain significance No assertion criteria
PEX19-related disorder

Predictors split 43

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

PEX19 p.Arg247His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Cys296Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gln176Glu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gln67Pro Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu164Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ser286Trp Uncertain significance Multiple submitters
PEX19-related disorder
PEX19 p.Thr132Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala2Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala32Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala80Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ala83Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Arg207Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Arg207Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Arg247Cys Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Cys128Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Cys296Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gln214Lys Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Gln231Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu152Gln Uncertain significance Single submitter
PEX19 p.Glu23Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Glu23Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Gly113Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly116Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly161Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Gly167Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu108Phe Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Leu21Ile Uncertain significance Single submitter
PEX19 p.Leu21Val Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Leu254Ile Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Leu258Ile Uncertain significance Single submitter
Inborn genetic diseases
PEX19 p.Leu26Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Lys227Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Met91Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Phe248Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Phe29Leu Uncertain significance Single submitter
PEX19 p.Phe64Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Phe71Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Phe71Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Phe71Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Phe75Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ser117Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Ser81Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)
PEX19 p.Val251Met Uncertain significance Single submitter
peroxisome biogenesis disorder 12A (Zellweger)

All PEX19 variants

Pathogenic 11

p.Ser54Leu Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala4fs Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gln144Ter Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gln176Ter Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gln259Ter Single submitter Inborn genetic diseases
p.Glu88fs Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu98fs Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Phe29fs Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser109Ter Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser134fs Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Lys107fs No assertion criteria peroxisome biogenesis disorder 12A (Zellweger)

Pathogenic/Likely pathogenic 1

p.Lys193Ter Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)

Likely pathogenic 15

c.346+2T>C Multiple submitters PEX19-related disorder
p.Leu94Ter Multiple submitters Zellweger spectrum disorders
c.180+1G>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-1G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-2A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.346+1G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.432+2T>C Single submitter PEX19-related disorder
c.594+1G>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.595-2A>G Single submitter
c.70+2T>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.816+5G>A Single submitter
p.Asp166fs Single submitter
p.Gln219fs Single submitter PEX19-related disorder
p.Leu133fs Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Trp202fs Single submitter Zellweger spectrum disorders

Conflicting classifications of pathogenicity 23

c.181-4G>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-5C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.347-7C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.70+7G>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.70+9_70+10insCGCT Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.-4C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala65= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala85= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala85Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Arg53= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Asp166Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln123= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu6Lys Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly293Ala Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu188= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Met255fs Single submitter PEX19-related disorder
p.Phe29= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Phe87= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Pro39Ser Single submitter Inborn genetic diseases ⚠
p.Ser134= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser223= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser223Gly Single submitter Inborn genetic diseases ⚠
p.Ser54= Single submitter peroxisome biogenesis disorder 12A (Zellweger)

Benign 14

c.181-46T>C Multiple submitters
c.594+155G>T Multiple submitters
c.594+37T>C Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.-14T>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*1471A>T Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*2156C>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*2353G>T Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*2417C>T Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*2637G>A Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*487T>A Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*898A>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.594+257T>C Single submitter
c.*1084T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*328A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)

Benign/Likely benign 7

c.181-15A>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.346+14A>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.347-13T>A Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.433-11G>T Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.771+3A>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Gly293= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Thr242= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)

Likely benign 152

c.181-4G>A Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.347-20G>A Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.433-6A>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.595-12C>T Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.595-17A>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.595-19C>T Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.70+9C>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.772-7T>C Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*2057T>G Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Glu168= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Glu294= Multiple submitters Inborn genetic diseases
p.Gly262= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Leu153= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Leu182= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Leu210= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Leu261= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Phe75= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Val102= Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.180+13C>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.180+13C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.180+14C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.180+15C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.180+16C>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-12C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-13C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-15A>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-16C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-6C>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-6C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.181-9C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.346+15G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.346+20A>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.346+7A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.346+9A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.347-19C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.347-24G>A Single submitter
c.347-5C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.347-8T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.432+12G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.432+15G>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.432+17_432+19del Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.432+8G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.433-10T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.433-11G>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.433-15_433-12del Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.433-15A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.433-7T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.433-9C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.594+11T>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.594+15A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.594+16T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.594+9A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.595-14CT[2] Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.595-18C>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.595-18C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.595-20C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.70+18del Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.70+8C>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.70+8C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.70+9C>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.70+9C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.71-15C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.71-15CT[3] Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.71-16T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.771+12T>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.771+18C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.772-12C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.772-4C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.772-8T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.772-9del Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.816+13T>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.816+14A>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.816+15T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.816+17T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.816+20C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.816+7A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.816+9G>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.817-13A>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.817-15T>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.817-15T>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.817-18C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.817-19C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.817-6C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*169C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1802G>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala112= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala14= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala2= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala4= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala44= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala62= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala83= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Arg207= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Asn181= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Asp118= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Asp163= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Asp239= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Asp281= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gln122= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu19= Single submitter
p.Glu194= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu23= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu230= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu6= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu73= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu78= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gly11= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gly116= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gly159= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gly161= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gly275= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gly49= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Gly7= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ile171= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Leu129= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Leu133= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Leu258= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Leu63= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Leu74= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Leu79= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Leu94= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Lys245= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Phe64= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Pro200= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Pro211= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Pro289= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Pro34= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Pro50= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser127= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser146= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser147= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser149= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser184= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser191= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser209= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser24= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser286= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser35= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser48= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser66= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ser9= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Thr120= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Thr132= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Thr196= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Thr236= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Thr43= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Thr58= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Tyr189= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Tyr218= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Val10= Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.817-4C>T No assertion criteria PEX19-related disorder
c.817-8T>G No assertion criteria PEX19-related disorder

Uncertain significance 218

c.*1335G>T Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
c.*864C>T Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Ala14Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala234Ser Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala282Val Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala37Val Multiple submitters Inborn genetic diseases ⚠
p.Ala95Asp Multiple submitters Inborn genetic diseases ⚠
p.Arg247His Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Asp163Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp30Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys296Arg Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Cys8Phe Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Cys8Tyr Multiple submitters PEX19-related disorder ⚠
p.Gln122Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln123Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln176Glu Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln67Pro Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln72Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu158Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu164Lys Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu235Met Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Glu5Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu6Gly Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu88Lys Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.His206Leu Multiple submitters peroxisome biogenesis disorder 12A (Zellweger)
p.Leu63Val Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met162Thr Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met162Val Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met175Val Multiple submitters Inborn genetic diseases
p.Pro273Thr Multiple submitters Inborn genetic diseases
p.Pro39Ala Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Pro50His Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Pro50Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser149Leu Multiple submitters PEX19-related disorder ⚠
p.Ser286Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser286Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser286Trp Multiple submitters PEX19-related disorder ⚠
p.Ser48Leu Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Thr132Ile Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Val224Ile Multiple submitters peroxisome biogenesis disorder 12A (Zellweger) ⚠
c.432+3G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.594+6T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.70+5G>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.771+5G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.817-9C>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.-17A>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1013G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1069G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1103C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1145C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1163T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1330G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*138C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1450T>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1462C>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1592G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*172G>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1745T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1761C>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1790A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1852C>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*1980T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*2068T>C Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*2155C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*2224G>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*2383C>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*2413C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*2536A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*2555T>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*2717A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*361G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*427A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*582G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*662C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*716C>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*741C>T Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*854G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*896A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*934A>G Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*971G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
c.*998G>A Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala111Thr Single submitter Inborn genetic diseases ⚠
p.Ala140Val Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Ala14Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala2Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala32Pro Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala32Ser Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala44Thr Single submitter Inborn genetic diseases ⚠
p.Ala4Asp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala4Ser Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala65Thr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala80Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala83Gly Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala85Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Arg16Trp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Arg207Gly Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Arg207Trp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Arg247Cys Single submitter Inborn genetic diseases ⚠
p.Arg53Lys Single submitter Inborn genetic diseases ⚠
p.Asn145Lys Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Asp142His Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Asp15Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Asp166Val Single submitter Inborn genetic diseases ⚠
p.Asp253Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Asp260Gly Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Asp281Gly Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Asp57Asn Single submitter Inborn genetic diseases ⚠
p.Asp61Asn Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Cys128Trp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Cys128Tyr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Cys296Tyr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln176Pro Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln214Lys Single submitter Inborn genetic diseases ⚠
p.Gln221Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln231Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln231His Single submitter Inborn genetic diseases ⚠
p.Gln256Arg Single submitter ⚠
p.Gln295Lys Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln51_Lys52delinsArg Single submitter
p.Gln51Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gln67Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu13Gln Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu152Gln Single submitter ⚠
p.Glu17Asp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu19Asp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu201Gln Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu233Asp Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Glu23Ala Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu23Asp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu23Gln Single submitter Inborn genetic diseases ⚠
p.Glu267Val Single submitter Inborn genetic diseases ⚠
p.Glu6Asp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Glu88Gln Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly113Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly116Asp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly11Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly159Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly161Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly167Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly169Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly262Ser Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly270Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly287Cys Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly290Ala Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly293Asp Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly56Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Gly7Ser Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.His206Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.His263Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ile178Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu101Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu108Phe Single submitter Inborn genetic diseases ⚠
p.Leu133Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu183Phe Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu188Pro Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu192Pro Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu192Val Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Leu210Pro Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu21Ile Single submitter ⚠
p.Leu21Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu252Met Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu254Ile Single submitter Inborn genetic diseases ⚠
p.Leu258Ile Single submitter Inborn genetic diseases ⚠
p.Leu258Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu26Ile Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Leu285Pro Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Lys138Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Lys185Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Lys193Arg Single submitter Inborn genetic diseases ⚠
p.Lys198Asn Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Lys227Glu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Lys33Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Lys52del Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Met119Val Single submitter ⚠
p.Met148Ile Single submitter ⚠
p.Met148Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met157Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met162Leu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met175Thr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met179Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met299fs Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Met299Thr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met91Thr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Met91Val Single submitter
p.Phe215Ser Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Phe232Leu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Phe232Val Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Phe248Leu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Phe29Leu Single submitter ⚠
p.Phe64Ile Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Phe71Cys Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Phe71Leu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Phe71Tyr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Phe75Leu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Pro173Ser Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Pro212Thr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Pro288Leu Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Pro289Ser Single submitter ⚠
p.Pro50Thr Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ser117Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ser121Phe Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ser177Arg Single submitter Inborn genetic diseases ⚠
p.Ser177Asn Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ser205Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ser40Ala Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ser81Phe Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ser9Gly Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Thr132Arg Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Thr154Ser Single submitter PEX19-related disorder ⚠
p.Thr236Ala Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Thr238Lys Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Thr41_Thr42insAsp Single submitter peroxisome biogenesis disorder 12A (Zellweger)
p.Thr43Met Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Thr58Ala Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Val102Ala Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Val251Met Single submitter peroxisome biogenesis disorder 12A (Zellweger) ⚠
p.Ala44Pro No assertion criteria PEX19-related disorder ⚠
p.Asp281_Ala282insGlyLeuAsnPheAspLeuAsp No assertion criteria PEX19-related disorder