PEX5 — 1063 ClinVar variants

All ClinVar germline PEX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 322 flagged for review →

38 Pathogenic · 11 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 57 Conflicting · 60 Benign · 5 Benign/Likely benign · 445 Likely benign · 419 Uncertain significance

Full PEX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 322

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 10

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

PEX5 p.Arg183His Conflicting Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg393Gln Conflicting Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg480Gln Conflicting Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asn520Ser Conflicting Single submitter
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Lys204Glu Conflicting Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Met634Ile Conflicting Single submitter
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Ser600Leu Conflicting Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ser605Asn Conflicting Single submitter
rhizomelic chondrodysplasia punctata type 5
PEX5 p.Thr197Met Conflicting Single submitter
Inborn genetic diseases
PEX5 p.Val202Leu Conflicting Single submitter
peroxisome biogenesis disorder 2A (Zellweger)

Predictors lean, ClinVar uncertain 224

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 224

PEX5 p.Ala124Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ala408Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ala410Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Ala44Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ala625Thr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ala625Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Ala78Thr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg158Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg183Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg220Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg237Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg31Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg344Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg345Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Arg427Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg457Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg457His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg547Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg557Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg559Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg590Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg590Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg608Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg608His Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg626Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg77His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Asn117Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Asn136Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Asn536Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Asn98His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Asp182Asn Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Asp207Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Asp286Asn Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Asp401Asn Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Asp465Glu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Asp505Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Asp618Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Gln166Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Gln26His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Gln325Glu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Glu348Asp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Glu445Gln Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Glu61Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Gly178Glu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Gly252Asp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Gly451Glu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ile222Val Uncertain significance Multiple submitters
rhizomelic chondrodysplasia punctata type 5
PEX5 p.Leu152Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Leu351Pro Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Leu462Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Leu611Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Phe498Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Pro151Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Pro39Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Pro41Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Pro41Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Ser141Ala Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Ser199Asn Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ser235Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ser283Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Ser461Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Ser617Thr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Thr316Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Thr404Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Thr441Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Thr81Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Val227Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Val517Ile Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ala119Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala14Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala21Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala233Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala238Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala244Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Ala245Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala256Ser Uncertain significance Single submitter
PEX5 p.Ala293Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala354Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala361Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala422Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala44Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala477Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala50Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala530Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala544Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala57Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala582Val Uncertain significance Single submitter
Inborn genetic diseases
PEX5 p.Ala625Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ala72Val Uncertain significance Single submitter
Inborn genetic diseases
PEX5 p.Ala89Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg100His Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg158His Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg183Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg263Lys Uncertain significance Single submitter
PEX5 p.Arg301Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg31Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg333Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg36Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg36Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg420Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg546His Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg557Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg573Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg593Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX5 p.Arg593Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg77Pro Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asn15Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asn353Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asn382Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asn98Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp139Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp186Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp193Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp207Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp311Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp428Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp69Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp69Asn Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Cys395Phe Uncertain significance Single submitter
PEX5 p.Cys423Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Cys510Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln120Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln249Glu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln250His Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln364His Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln537Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln537His Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln552His Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln639His Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gln96Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu175Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu230Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu230Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX5 p.Glu273Gln Uncertain significance Single submitter
Inborn genetic diseases
PEX5 p.Glu33Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu416Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu473Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu48Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu540Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu59Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 2A (Zellweger)
PEX5 p.Gly223Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly22Arg Uncertain significance Single submitter
PEX5 p.Gly232Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly232Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly236Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly38Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly43Val Uncertain significance Single submitter
PEX5 p.Gly453Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly55Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly563Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 2B

Predictors split 88

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

PEX5 p.Ala388Ser Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg220Trp Benign/Likely benign Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg301Gly Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg301Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg333Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg333His Benign Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg344Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg431Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg431Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg518His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg546Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg590Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Arg590Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Arg593Trp Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Asp139His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Asp505His Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Glu10Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Glu224Lys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Glu282Ala Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Glu540Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Gly12Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Gly13Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Ile564Val Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Leu515Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Leu6Pro Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Met298Thr Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Met613Val Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Phe99Leu Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ser155Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Thr633Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PEX5 p.Trp184Arg Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Tyr522Cys Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Val508Met Uncertain significance Multiple submitters
peroxisome biogenesis disorder 2B
PEX5 p.Ala106Val Uncertain significance Single submitter
PEX5 p.Ala360Thr Uncertain significance Single submitter
PEX5 p.Ala582Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg105Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg394Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg480Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg518Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg547Trp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Arg77Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp259Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp27Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp27Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp401Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Asp627His Uncertain significance Single submitter
PEX5 p.Asp85Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Cys11Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu10Gln Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu540Lys Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu8Asp Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Glu8Gly Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly13Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly13Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly323Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Gly34Arg Uncertain significance Single submitter
PEX5 p.His438Tyr Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ile389Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Leu439Met Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Leu463Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Leu607Val Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Lys209Thr Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Lys322Met Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Met3Thr Uncertain significance Single submitter
Inborn genetic diseases
PEX5 p.Met91Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Phe215Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Phe218Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Phe274Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Phe66Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Pro307Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Pro307Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Pro331Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Pro331Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Pro366Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Pro400Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Pro638Arg Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Pro638Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ser146Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ser231Cys Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ser417Phe Uncertain significance Single submitter
Inborn genetic diseases
PEX5 p.Ser464Phe Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Ser617Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Thr81Ile Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Trp184Ser Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Tyr320Cys Uncertain significance Single submitter
Inborn genetic diseases
PEX5 p.Val479Leu Uncertain significance Single submitter
peroxisome biogenesis disorder 2B
PEX5 p.Val7Ala Uncertain significance Single submitter
peroxisome biogenesis disorder 2B

All PEX5 variants

Pathogenic 38

p.Arg420Ter Multiple submitters peroxisome biogenesis disorder 2B
p.Arg427Ter Multiple submitters rhizomelic chondrodysplasia punctata type 5
p.Ala160fs Single submitter peroxisome biogenesis disorder 2B
p.Ala422fs Single submitter peroxisome biogenesis disorder 2B
p.Arg158fs Single submitter peroxisome biogenesis disorder 2B
p.Arg427fs Single submitter peroxisome biogenesis disorder 2B
p.Arg457fs Single submitter peroxisome biogenesis disorder 2B
p.Asn536fs Single submitter peroxisome biogenesis disorder 2B
p.Asp139fs Single submitter peroxisome biogenesis disorder 2B
p.Gln195Ter Single submitter peroxisome biogenesis disorder 2B
p.Gln221Ter Single submitter peroxisome biogenesis disorder 2B
p.Gln239Ter Single submitter peroxisome biogenesis disorder 2B
p.Gln26Ter Single submitter peroxisome biogenesis disorder 2B
p.Gln419Ter Single submitter peroxisome biogenesis disorder 2B
p.Gln491fs Single submitter peroxisome biogenesis disorder 2B
p.Glu10fs Single submitter peroxisome biogenesis disorder 2B
p.Glu246fs Single submitter peroxisome biogenesis disorder 2B
p.Glu328Ter Single submitter peroxisome biogenesis disorder 2B
p.Glu601fs Single submitter
p.Leu270fs Single submitter peroxisome biogenesis disorder 2B
p.Leu30fs Single submitter peroxisome biogenesis disorder 2B
p.Leu452fs Single submitter peroxisome biogenesis disorder 2B
p.Leu467fs Single submitter peroxisome biogenesis disorder 2B
p.Leu476fs Single submitter peroxisome biogenesis disorder 2B
p.Leu62Ter Single submitter peroxisome biogenesis disorder 2B
p.Lys28fs Single submitter peroxisome biogenesis disorder 2B
p.Phe218Ser Single submitter rhizomelic chondrodysplasia punctata type 5
p.Phe247fs Single submitter peroxisome biogenesis disorder 2B
p.Phe24fs Single submitter peroxisome biogenesis disorder 2B
p.Ser167Ter Single submitter peroxisome biogenesis disorder 2B
p.Thr179fs Single submitter peroxisome biogenesis disorder 2B
p.Trp40Ter Single submitter peroxisome biogenesis disorder 2B
p.Trp525Ter Single submitter peroxisome biogenesis disorder 2B
p.Tyr185Ter Single submitter peroxisome biogenesis disorder 2B
p.Tyr504Ter Single submitter peroxisome biogenesis disorder 2B
p.Val227fs Single submitter rhizomelic chondrodysplasia punctata
p.Val440fs Single submitter peroxisome biogenesis disorder 2B
p.Val508fs Single submitter peroxisome biogenesis disorder 2B

Pathogenic/Likely pathogenic 11

c.449-2A>G Multiple submitters peroxisome biogenesis disorder 2B
c.552-1G>A Multiple submitters peroxisome biogenesis disorder 2B
p.Arg237Ter Multiple submitters peroxisome biogenesis disorder 2B
p.Arg276Ter Multiple submitters Zellweger spectrum disorders
p.Asn526Lys Multiple submitters peroxisome biogenesis disorder
p.Gln120Ter Multiple submitters peroxisome biogenesis disorder 2B
p.Glu121Ter Multiple submitters peroxisome biogenesis disorder 2B
p.Glu224Ter Multiple submitters peroxisome biogenesis disorder 2B
p.Ser235fs Multiple submitters peroxisome biogenesis disorder 2B
p.Thr316fs Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
p.Trp184Ter Multiple submitters PEX5-related disorder

Likely pathogenic 28

c.135_147+33delinsC Multiple submitters peroxisome biogenesis disorder 2B
c.847-2A>G Multiple submitters peroxisome biogenesis disorder 2B
c.967-1G>A Multiple submitters peroxisome biogenesis disorder 2B
c.1182-1G>C Single submitter peroxisome biogenesis disorder 2B
c.135_147+32del Single submitter peroxisome biogenesis disorder 2B
c.147+11_147+56delinsG Single submitter PEX5-related disorder
c.147+27del Single submitter PEX5-related disorder
c.147+2T>G Single submitter peroxisome biogenesis disorder 2B
c.147+4A>G Single submitter peroxisome biogenesis disorder 2B
c.148-2A>T Single submitter peroxisome biogenesis disorder 2B
c.1561-2A>G Single submitter peroxisome biogenesis disorder 2B
c.317-2A>G Single submitter peroxisome biogenesis disorder 2B
c.753+1G>A Single submitter peroxisome biogenesis disorder 2B
c.753+2T>C Single submitter peroxisome biogenesis disorder 2B
c.846+1G>A Single submitter peroxisome biogenesis disorder
c.847-7_861del Single submitter peroxisome biogenesis disorder 2B
c.966+1G>C Single submitter peroxisome biogenesis disorder 2B
c.967-1_971del Single submitter peroxisome biogenesis disorder 2B
p.Cys395fs Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Gln133Ter Single submitter peroxisome biogenesis disorder 4A (Zellweger)
p.Leu463fs Single submitter PEX5-related disorder
p.Leu607fs Single submitter rhizomelic chondrodysplasia punctata type 5
p.Ser47fs Single submitter peroxisome biogenesis disorder due to PEX5 defect
p.Ser600Trp Single submitter peroxisome biogenesis disorder
p.Trp140_Ser141delinsTer Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Tyr432Ter Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Val496_Leu497insTer Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Val75fs Single submitter PEX5-related disorder

Conflicting classifications of pathogenicity 57

c.1111-4C>G Single submitter peroxisome biogenesis disorder 2B
c.1395-14T>C Single submitter peroxisome biogenesis disorder 2B
c.147+32_147+121del Single submitter Fetal anomalies with a likely genetic cause
c.147+77_147+121del Single submitter rhizomelic chondrodysplasia punctata type 5
c.1718+5G>A Single submitter peroxisome biogenesis disorder 2B
c.316+3G>A Single submitter peroxisome biogenesis disorder 2B
c.317-6T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.551+8C>T Single submitter peroxisome biogenesis disorder 2B
c.552-10C>T Single submitter peroxisome biogenesis disorder 2B
c.552-7G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.642+6C>T Single submitter peroxisome biogenesis disorder 2B
c.643-5C>T Single submitter peroxisome biogenesis disorder 2B
c.753+10T>C Single submitter peroxisome biogenesis disorder 2B
c.754-2A>C Single submitter peroxisome biogenesis disorder 2B
c.754-4G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.967-15G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-17+185T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*81A>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Ala157= Single submitter peroxisome biogenesis disorder 2B
p.Ala303= Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Ala625= Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Arg183His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg220= Single submitter peroxisome biogenesis disorder 2B
p.Arg393Gln Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg480Gln Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg546= Single submitter peroxisome biogenesis disorder 2B
p.Asn415= Single submitter peroxisome biogenesis disorder 2B
p.Asn520= Single submitter peroxisome biogenesis disorder 2B
p.Asn520Ser Single submitter peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Asp27= Single submitter peroxisome biogenesis disorder 2B
p.Asp624= Single submitter peroxisome biogenesis disorder 2B
p.Asp86= Single submitter peroxisome biogenesis disorder 2B
p.Gln166= Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Gln221= Single submitter peroxisome biogenesis disorder 2B
p.Gln616= Single submitter peroxisome biogenesis disorder 2B
p.Gly43= Single submitter peroxisome biogenesis disorder 2B
p.Gly449= Single submitter peroxisome biogenesis disorder 2B
p.Gly529= Single submitter peroxisome biogenesis disorder 2B
p.Leu229= Single submitter peroxisome biogenesis disorder 2B
p.Leu515= Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Leu523= Single submitter peroxisome biogenesis disorder 2B
p.Leu549= Single submitter peroxisome biogenesis disorder 2B
p.Leu569= Single submitter peroxisome biogenesis disorder 2B
p.Lys204Glu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Met634Ile Single submitter peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Phe579= Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Pro16= Single submitter peroxisome biogenesis disorder 2B
p.Pro45= Single submitter peroxisome biogenesis disorder 2B
p.Ser516= Single submitter peroxisome biogenesis disorder 2B
p.Ser600= Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Ser600Leu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ser605Asn Single submitter rhizomelic chondrodysplasia punctata type 5 ⚠
p.Thr132= Single submitter peroxisome biogenesis disorder 2B
p.Thr181= Single submitter peroxisome biogenesis disorder 2B
p.Thr197= Single submitter peroxisome biogenesis disorder 2B
p.Thr197Met Single submitter Inborn genetic diseases ⚠
p.Val202Leu Single submitter peroxisome biogenesis disorder 2A (Zellweger) ⚠

Benign 60

c.1111-84C>T Multiple submitters
c.1182-161T>C Multiple submitters
c.1394+22G>A Multiple submitters
c.147+59_147+68del Multiple submitters
c.147+70_147+104del Multiple submitters
c.1560+63T>C Multiple submitters
c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
c.1719-89C>T Multiple submitters
c.551+113_551+114dup Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
c.551+134T>C Multiple submitters
c.551+23G>A Multiple submitters
c.551+71C>T Multiple submitters
c.846+27C>A Multiple submitters
c.847-130C>G Multiple submitters
c.967-112C>A Multiple submitters
c.967-26C>G Multiple submitters rhizomelic chondrodysplasia punctata type 5
c.-16-100G>A Multiple submitters
c.-17+290T>A Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.-20C>G Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.*141G>A Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.*628G>A Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.*628G>C Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.*755C>G Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.*75G>A Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
p.Arg333His Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Met272Thr Multiple submitters peroxisome biogenesis disorder 2B
c.137_147+1del Single submitter rhizomelic chondrodysplasia punctata type 5
c.1394+14dup Single submitter peroxisome biogenesis disorder 2B
c.551+114_551+115insTA Single submitter
c.551+114_551+115insTTA Single submitter
c.551+114dup Single submitter
c.551+115dup Single submitter
c.551+296A>T Single submitter
c.551+298A>C Single submitter
c.754-8del Single submitter peroxisome biogenesis disorder 2B
c.754-8dup Single submitter peroxisome biogenesis disorder 2B
c.846+283T>C Single submitter
c.847-203C>G Single submitter
c.847-206_847-204del Single submitter
c.847-213C>A Single submitter
c.847-214G>A Single submitter
c.847-218C>A Single submitter
c.847-219G>A Single submitter
c.847-223C>A Single submitter
c.847-224G>A Single submitter
c.847-228C>A Single submitter
c.847-229G>A Single submitter
c.847-233C>A Single submitter
c.847-234G>A Single submitter
c.847-238C>A Single submitter
c.847-239G>A Single submitter
c.847-246_847-233del Single submitter
c.847-246_847-238del Single submitter
c.847-246_847-243del Single submitter
c.847-250_847-248del Single submitter
c.966+12dup Single submitter peroxisome biogenesis disorder 2B
c.966+216C>T Single submitter
c.966+24dup Single submitter peroxisome biogenesis disorder 2B
c.966+332G>A Single submitter
c.*960C>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)

Benign/Likely benign 5

c.148-15_148-12del Multiple submitters peroxisome biogenesis disorder 2B
c.1718+13A>G Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
p.Arg220Trp Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asp127= Multiple submitters peroxisome biogenesis disorder 2B
c.147+33A>G No assertion criteria

Likely benign 445

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

c.1111-14C>T Multiple submitters peroxisome biogenesis disorder 2B
c.1111-4C>A Multiple submitters peroxisome biogenesis disorder 2B
c.1182-6A>T Multiple submitters peroxisome biogenesis disorder 2B
c.1394+13G>A Multiple submitters peroxisome biogenesis disorder 2B
c.1394+14G>T Multiple submitters peroxisome biogenesis disorder 2B
c.148-18T>G Multiple submitters peroxisome biogenesis disorder 2B
c.148-7C>T Multiple submitters peroxisome biogenesis disorder 2B
c.1560+8C>T Multiple submitters peroxisome biogenesis disorder 2B
c.1718+11_1718+14dup Multiple submitters peroxisome biogenesis disorder 2B
c.1718+17A>G Multiple submitters peroxisome biogenesis disorder 2B
c.183+15C>T Multiple submitters peroxisome biogenesis disorder 2B
c.183+17C>A Multiple submitters peroxisome biogenesis disorder 2B
c.316+15T>C Multiple submitters peroxisome biogenesis disorder 2B
c.317-11_317-10insGT Multiple submitters peroxisome biogenesis disorder 2B
c.317-15T>C Multiple submitters peroxisome biogenesis disorder 2B
c.551+14C>T Multiple submitters peroxisome biogenesis disorder 2B
c.551+9A>G Multiple submitters peroxisome biogenesis disorder 2B
c.552-8C>T Multiple submitters peroxisome biogenesis disorder 2B
c.642+13C>T Multiple submitters peroxisome biogenesis disorder 2B
c.754-17A>G Multiple submitters peroxisome biogenesis disorder 2B
c.754-5C>T Multiple submitters peroxisome biogenesis disorder 2B
c.847-11C>T Multiple submitters peroxisome biogenesis disorder 2B
c.966+15_966+16del Multiple submitters peroxisome biogenesis disorder 2B
c.966+9A>G Multiple submitters peroxisome biogenesis disorder 2B
c.967-13G>A Multiple submitters peroxisome biogenesis disorder 2B
c.967-16C>T Multiple submitters peroxisome biogenesis disorder 2B
c.-17+188T>C Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.*20G>C Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
p.Ala106= Multiple submitters peroxisome biogenesis disorder 2B
p.Ala360= Multiple submitters peroxisome biogenesis disorder 2B
p.Ala408= Multiple submitters peroxisome biogenesis disorder 2B
p.Ala543= Multiple submitters peroxisome biogenesis disorder 2B
p.Ala623= Multiple submitters peroxisome biogenesis disorder 2B
p.Ala64= Multiple submitters peroxisome biogenesis disorder 2B
p.Ala72= Multiple submitters peroxisome biogenesis disorder 2B
p.Asn568= Multiple submitters peroxisome biogenesis disorder 2B
p.Gly12= Multiple submitters peroxisome biogenesis disorder 2B
p.Gly223= Multiple submitters peroxisome biogenesis disorder 2B
p.Gly502= Multiple submitters peroxisome biogenesis disorder 2B
p.Leu164= Multiple submitters peroxisome biogenesis disorder 2B
p.Leu430= Multiple submitters peroxisome biogenesis disorder 2B
p.Leu462= Multiple submitters peroxisome biogenesis disorder 2B
p.Leu551= Multiple submitters peroxisome biogenesis disorder 2B
p.Leu87= Multiple submitters peroxisome biogenesis disorder 2B
p.Phe82= Multiple submitters peroxisome biogenesis disorder 2B
p.Ser235= Multiple submitters peroxisome biogenesis disorder 2B
p.Ser279= Multiple submitters peroxisome biogenesis disorder 2B
p.Ser558= Multiple submitters peroxisome biogenesis disorder 2B
p.Ser605= Multiple submitters peroxisome biogenesis disorder 2B
p.Ser617= Multiple submitters peroxisome biogenesis disorder 2B
p.Thr25= Multiple submitters peroxisome biogenesis disorder 2B
p.Thr267= Multiple submitters peroxisome biogenesis disorder 2B
p.Thr378= Multiple submitters peroxisome biogenesis disorder 2B
c.1110+10T>G Single submitter peroxisome biogenesis disorder 2B
c.1110+11C>T Single submitter peroxisome biogenesis disorder 2B
c.1110+13A>G Single submitter peroxisome biogenesis disorder 2B
c.1110+14T>C Single submitter peroxisome biogenesis disorder 2B
c.1110+16G>A Single submitter peroxisome biogenesis disorder 2B
c.1110+18C>T Single submitter peroxisome biogenesis disorder 2B
c.1110+19T>C Single submitter peroxisome biogenesis disorder 2B
c.1110+20C>T Single submitter peroxisome biogenesis disorder 2B
c.1110+6_1110+7dup Single submitter peroxisome biogenesis disorder 2B
c.1110+8A>G Single submitter peroxisome biogenesis disorder 2B
c.1110+9C>T Single submitter peroxisome biogenesis disorder 2B
c.1111-11C>A Single submitter peroxisome biogenesis disorder 2B
c.1111-17dup Single submitter peroxisome biogenesis disorder 2B
c.1111-18C>T Single submitter peroxisome biogenesis disorder 2B
c.1111-19T>C Single submitter peroxisome biogenesis disorder 2B
c.1111-20_1111-19insAT Single submitter peroxisome biogenesis disorder 2B
c.1111-6C>G Single submitter peroxisome biogenesis disorder 2B
c.1111-7C>T Single submitter peroxisome biogenesis disorder 2B
c.1111-8C>T Single submitter peroxisome biogenesis disorder 2B
c.1181+12G>A Single submitter peroxisome biogenesis disorder 2B
c.1181+16G>A Single submitter peroxisome biogenesis disorder 2B
c.1181+19G>A Single submitter peroxisome biogenesis disorder 2B
c.1181+20T>G Single submitter peroxisome biogenesis disorder 2B
c.1181+9A>G Single submitter peroxisome biogenesis disorder 2B
c.1182-12C>G Single submitter peroxisome biogenesis disorder 2B
c.1182-12C>T Single submitter peroxisome biogenesis disorder 2B
c.1182-13C>T Single submitter peroxisome biogenesis disorder 2B
c.1182-16del Single submitter peroxisome biogenesis disorder 2B
c.1182-20G>A Single submitter peroxisome biogenesis disorder 2B
c.1182-8T>C Single submitter peroxisome biogenesis disorder 2B
c.1182-9A>T Single submitter peroxisome biogenesis disorder 2B
c.1394+15T>C Single submitter peroxisome biogenesis disorder 2B
c.1394+18C>T Single submitter peroxisome biogenesis disorder 2B
c.1394+9del Single submitter peroxisome biogenesis disorder 2B
c.1395-12C>G Single submitter peroxisome biogenesis disorder 2B
c.1395-13C>G Single submitter
c.1395-20T>G Single submitter peroxisome biogenesis disorder 2B
c.1395-5T>C Single submitter peroxisome biogenesis disorder 2B
c.1395-7C>T Single submitter peroxisome biogenesis disorder 2B
c.147+11_147+13del Single submitter
c.147+11T>A Single submitter peroxisome biogenesis disorder 2B
c.147+13G>C Single submitter peroxisome biogenesis disorder 2B
c.147+148T>G Single submitter
c.147+14A>C Single submitter peroxisome biogenesis disorder 2B
c.147+55_147+56insGTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTC Single submitter peroxisome biogenesis disorder 2B
c.147+71_147+116del Single submitter
c.148-10T>C Single submitter peroxisome biogenesis disorder 2B
c.148-11T>C Single submitter peroxisome biogenesis disorder 2B
c.148-13C>T Single submitter peroxisome biogenesis disorder 2B
c.148-14T>C Single submitter peroxisome biogenesis disorder 2B
c.148-19C>G Single submitter peroxisome biogenesis disorder 2B
c.148-19C>T Single submitter peroxisome biogenesis disorder 2B
c.148-7del Single submitter peroxisome biogenesis disorder 2B
c.1560+10G>C Single submitter peroxisome biogenesis disorder 2B
c.1560+12G>A Single submitter peroxisome biogenesis disorder 2B
c.1560+19T>A Single submitter peroxisome biogenesis disorder 2B
c.1560+7C>T Single submitter peroxisome biogenesis disorder 2B
c.1561-14C>T Single submitter peroxisome biogenesis disorder 2B
c.1561-15G>A Single submitter peroxisome biogenesis disorder 2B
c.1561-20G>A Single submitter peroxisome biogenesis disorder 2B
c.1561-5C>G Single submitter peroxisome biogenesis disorder 2B
c.1561-6T>C Single submitter peroxisome biogenesis disorder 2B
c.1718+11_1718+14del Single submitter peroxisome biogenesis disorder 2B
c.1718+16G>C Single submitter peroxisome biogenesis disorder 2B
c.1718+18G>C Single submitter peroxisome biogenesis disorder 2B
c.1718+19A>G Single submitter peroxisome biogenesis disorder 2B
c.1718+20AATG[2] Single submitter peroxisome biogenesis disorder 2B
c.1718+7G>A Single submitter peroxisome biogenesis disorder 2B
c.1718+8T>G Single submitter peroxisome biogenesis disorder 2B
c.1718+9_1718+10del Single submitter peroxisome biogenesis disorder 2B
c.1718+9_1718+11dup Single submitter peroxisome biogenesis disorder 2B
c.1718+9A>G Single submitter peroxisome biogenesis disorder 2B
c.1719-10_1719-8del Single submitter peroxisome biogenesis disorder 2B
c.1719-10T>G Single submitter peroxisome biogenesis disorder 2B
c.1719-13T>C Single submitter peroxisome biogenesis disorder 2B
c.1719-20A>T Single submitter peroxisome biogenesis disorder 2B
c.1719-4A>T Single submitter peroxisome biogenesis disorder 2B
c.1719-7del Single submitter peroxisome biogenesis disorder 2B
c.183+10C>T Single submitter
c.183+12A>C Single submitter peroxisome biogenesis disorder 2B
c.183+13G>A Single submitter peroxisome biogenesis disorder 2B
c.183+13G>C Single submitter peroxisome biogenesis disorder 2B
c.183+15C>A Single submitter peroxisome biogenesis disorder 2B
c.183+15C>G Single submitter peroxisome biogenesis disorder 2B
c.183+16T>C Single submitter peroxisome biogenesis disorder 2B
c.183+17C>G Single submitter peroxisome biogenesis disorder 2B
c.183+7A>G Single submitter peroxisome biogenesis disorder 2B
c.183+8G>C Single submitter peroxisome biogenesis disorder 2B
c.183+9A>G Single submitter peroxisome biogenesis disorder 2B
c.184-16A>C Single submitter peroxisome biogenesis disorder 2B
c.184-17C>T Single submitter peroxisome biogenesis disorder 2B
c.184-20C>A Single submitter peroxisome biogenesis disorder 2B
c.184-4del Single submitter peroxisome biogenesis disorder 2B
c.184-7C>T Single submitter peroxisome biogenesis disorder 2B
c.184-8T>A Single submitter peroxisome biogenesis disorder 2B
c.184-9T>G Single submitter peroxisome biogenesis disorder 2B
c.316+11A>G Single submitter peroxisome biogenesis disorder 2B
c.316+14C>G Single submitter peroxisome biogenesis disorder 2B
c.316+16A>C Single submitter peroxisome biogenesis disorder 2B
c.316+17del Single submitter peroxisome biogenesis disorder 2B
c.316+17G>T Single submitter peroxisome biogenesis disorder 2B
c.316+19G>A Single submitter peroxisome biogenesis disorder 2B
c.316+9A>C Single submitter peroxisome biogenesis disorder 2B
c.317-10C>T Single submitter peroxisome biogenesis disorder 2B
c.317-16C>G Single submitter peroxisome biogenesis disorder 2B
c.317-16C>T Single submitter peroxisome biogenesis disorder 2B
c.317-18C>G Single submitter peroxisome biogenesis disorder 2B
c.317-18C>T Single submitter peroxisome biogenesis disorder 2B
c.317-19TC[4] Single submitter peroxisome biogenesis disorder 2B
c.317-19TC[5] Single submitter peroxisome biogenesis disorder 2B
c.317-19TC[7] Single submitter peroxisome biogenesis disorder 2B
c.317-20T>C Single submitter peroxisome biogenesis disorder 2B
c.317-8C>T Single submitter peroxisome biogenesis disorder 2B
c.448+12T>C Single submitter peroxisome biogenesis disorder 2B
c.448+14T>C Single submitter peroxisome biogenesis disorder 2B
c.448+15G>A Single submitter peroxisome biogenesis disorder 2B
c.448+18A>G Single submitter peroxisome biogenesis disorder 2B
c.448+20A>G Single submitter peroxisome biogenesis disorder 2B
c.448+7C>T Single submitter peroxisome biogenesis disorder 2B
c.449-10C>T Single submitter peroxisome biogenesis disorder 2B
c.449-112G>A Single submitter
c.449-11del Single submitter peroxisome biogenesis disorder 2B
c.449-11G>C Single submitter peroxisome biogenesis disorder 2B
c.449-13C>T Single submitter peroxisome biogenesis disorder 2B
c.449-14T>C Single submitter peroxisome biogenesis disorder 2B
c.449-16T>C Single submitter peroxisome biogenesis disorder 2B
c.449-17T>C Single submitter peroxisome biogenesis disorder 2B
c.449-7C>T Single submitter
c.449-8C>T Single submitter peroxisome biogenesis disorder 2B
c.551+10G>A Single submitter peroxisome biogenesis disorder 2B
c.551+13A>C Single submitter peroxisome biogenesis disorder 2B
c.551+14_551+25del Single submitter peroxisome biogenesis disorder 2B
c.551+15C>T Single submitter peroxisome biogenesis disorder 2B
c.551+17C>T Single submitter peroxisome biogenesis disorder 2B
c.551+20T>C Single submitter peroxisome biogenesis disorder 2B
c.552-14C>A Single submitter peroxisome biogenesis disorder 2B
c.552-14C>G Single submitter peroxisome biogenesis disorder 2B
c.552-17G>T Single submitter peroxisome biogenesis disorder 2B
c.552-18_552-17insCCC Single submitter peroxisome biogenesis disorder 2B
c.552-18A>G Single submitter peroxisome biogenesis disorder 2B
c.552-4C>T Single submitter peroxisome biogenesis disorder 2B
c.552-7G>C Single submitter peroxisome biogenesis disorder 2B
c.552-7G>T Single submitter peroxisome biogenesis disorder 2B
c.552-8del Single submitter peroxisome biogenesis disorder 2B
c.552-9C>A Single submitter peroxisome biogenesis disorder 2B
c.642+12C>A Single submitter peroxisome biogenesis disorder 2B
c.642+12C>T Single submitter peroxisome biogenesis disorder 2B
c.642+14C>T Single submitter peroxisome biogenesis disorder 2B
c.642+16C>T Single submitter peroxisome biogenesis disorder 2B
c.642+18dup Single submitter peroxisome biogenesis disorder 2B
c.642+18G>A Single submitter peroxisome biogenesis disorder 2B
c.642+19C>G Single submitter peroxisome biogenesis disorder 2B
c.642+19C>T Single submitter peroxisome biogenesis disorder 2B
c.642+20T>G Single submitter peroxisome biogenesis disorder 2B
c.642+7del Single submitter peroxisome biogenesis disorder 2B
c.642+8A>G Single submitter peroxisome biogenesis disorder 2B
c.643-12T>C Single submitter peroxisome biogenesis disorder 2B
c.643-17G>A Single submitter peroxisome biogenesis disorder 2B
c.643-20T>C Single submitter peroxisome biogenesis disorder 2B
c.643-22TG[2] Single submitter peroxisome biogenesis disorder 2B
c.643-6C>T Single submitter peroxisome biogenesis disorder 2B
c.753+11G>A Single submitter peroxisome biogenesis disorder 2B
c.753+13C>T Single submitter peroxisome biogenesis disorder 2B
c.753+18T>A Single submitter peroxisome biogenesis disorder 2B
c.753+19C>A Single submitter peroxisome biogenesis disorder 2B
c.753+19C>G Single submitter peroxisome biogenesis disorder 2B
c.753+20C>T Single submitter peroxisome biogenesis disorder 2B
c.753+7C>T Single submitter peroxisome biogenesis disorder 2B
c.753+92T>C Single submitter
c.754-14C>A Single submitter peroxisome biogenesis disorder 2B
c.754-18C>G Single submitter peroxisome biogenesis disorder 2B
c.754-4G>T Single submitter peroxisome biogenesis disorder 2B
c.846+12T>C Single submitter peroxisome biogenesis disorder 2B
c.846+14G>T Single submitter peroxisome biogenesis disorder 2B
c.846+15T>A Single submitter peroxisome biogenesis disorder 2B
c.846+15T>G Single submitter peroxisome biogenesis disorder 2B
c.846+16G>T Single submitter peroxisome biogenesis disorder 2B
c.846+19G>A Single submitter peroxisome biogenesis disorder 2B
c.847-13_847-6dup Single submitter peroxisome biogenesis disorder 2B
c.847-202_847-201insGA Single submitter
c.847-206T>C Single submitter
c.847-248C>G Single submitter
c.847-9T>C Single submitter peroxisome biogenesis disorder 2B
c.966+12A>C Single submitter peroxisome biogenesis disorder 2B
c.966+14T>A Single submitter peroxisome biogenesis disorder 2B
c.966+15C>G Single submitter peroxisome biogenesis disorder 2B
c.966+16T>C Single submitter peroxisome biogenesis disorder 2B
c.966+18_966+19dup Single submitter peroxisome biogenesis disorder 2B
c.967-10T>G Single submitter peroxisome biogenesis disorder 2B
c.967-17A>T Single submitter peroxisome biogenesis disorder 2B
c.967-18C>G Single submitter peroxisome biogenesis disorder 2B
c.967-18C>T Single submitter peroxisome biogenesis disorder 2B
c.967-20C>T Single submitter peroxisome biogenesis disorder 2B
c.967-4G>A Single submitter peroxisome biogenesis disorder 2B
c.967-9T>A Single submitter peroxisome biogenesis disorder 2B
c.-16-16C>T Single submitter
c.-17+151G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-17+196C>G Single submitter
c.-17+231del Single submitter
c.-17+273G>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1097T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*114C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*462G>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*9C>T Single submitter
p.Ala110= Single submitter peroxisome biogenesis disorder 2B
p.Ala113= Single submitter peroxisome biogenesis disorder 2B
p.Ala14= Single submitter peroxisome biogenesis disorder 2B
p.Ala180= Single submitter peroxisome biogenesis disorder 2B
p.Ala198= Single submitter peroxisome biogenesis disorder 2B
p.Ala203= Single submitter peroxisome biogenesis disorder 2B
p.Ala21= Single submitter peroxisome biogenesis disorder 2B
p.Ala211= Single submitter peroxisome biogenesis disorder 2B
p.Ala238= Single submitter peroxisome biogenesis disorder 2B
p.Ala240= Single submitter peroxisome biogenesis disorder 2B
p.Ala256= Single submitter peroxisome biogenesis disorder 2B
p.Ala269= Single submitter peroxisome biogenesis disorder 2B
p.Ala277= Single submitter peroxisome biogenesis disorder 2B
p.Ala299= Single submitter peroxisome biogenesis disorder 2B
p.Ala305= Single submitter peroxisome biogenesis disorder 2B
p.Ala371= Single submitter peroxisome biogenesis disorder 2B
p.Ala380= Single submitter peroxisome biogenesis disorder 2B
p.Ala391= Single submitter peroxisome biogenesis disorder 2B
p.Ala405= Single submitter peroxisome biogenesis disorder 2B
p.Ala422= Single submitter peroxisome biogenesis disorder 2B
p.Ala437= Single submitter peroxisome biogenesis disorder 2B
p.Ala44= Single submitter peroxisome biogenesis disorder 2B
p.Ala507= Single submitter peroxisome biogenesis disorder 2B
p.Ala544= Single submitter peroxisome biogenesis disorder 2B
p.Ala548= Single submitter peroxisome biogenesis disorder 2B
p.Ala571= Single submitter peroxisome biogenesis disorder 2B
p.Ala582= Single submitter peroxisome biogenesis disorder 2B
p.Ala598= Single submitter peroxisome biogenesis disorder 2B
p.Ala622= Single submitter peroxisome biogenesis disorder 2B
p.Ala78= Single submitter peroxisome biogenesis disorder 2B
p.Ala89= Single submitter peroxisome biogenesis disorder 2B
p.Ala9= Single submitter peroxisome biogenesis disorder 2B
p.Arg100= Single submitter peroxisome biogenesis disorder 2B
p.Arg31= Single submitter peroxisome biogenesis disorder 2B
p.Arg4= Single submitter peroxisome biogenesis disorder 2B
p.Arg431= Single submitter peroxisome biogenesis disorder 2B
p.Arg559= Single submitter peroxisome biogenesis disorder 2B
p.Arg587= Single submitter peroxisome biogenesis disorder 2B
p.Arg590= Single submitter peroxisome biogenesis disorder 2B
p.Arg593= Single submitter peroxisome biogenesis disorder 2B
p.Arg77= Single submitter peroxisome biogenesis disorder 2B
p.Asn330= Single submitter peroxisome biogenesis disorder 2B
p.Asn353= Single submitter peroxisome biogenesis disorder 2B

Uncertain significance 419

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

c.1111-12A>G Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.1560+6C>T Multiple submitters peroxisome biogenesis disorder 2B
c.966+3G>A Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.966+5G>A Multiple submitters peroxisome biogenesis disorder 2B
c.967-3dup Multiple submitters peroxisome biogenesis disorder 2B
c.-17+40T>C Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
c.-5T>C Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
p.Ala124Gly Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Ala240Pro Multiple submitters Inborn genetic diseases
p.Ala388Ser Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Ala408Val Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Ala410Val Multiple submitters Inborn genetic diseases ⚠
p.Ala44Gly Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Ala625Thr Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Ala625Val Multiple submitters Inborn genetic diseases ⚠
p.Ala78Thr Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg158Cys Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg183Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg220Gln Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg237Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg301Gly Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg301Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg31Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg333Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg344Gln Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg344Trp Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg345Cys Multiple submitters peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Arg393Trp Multiple submitters Inborn genetic diseases
p.Arg427Gln Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg427Leu Multiple submitters Inborn genetic diseases
p.Arg431Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg431Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg457Cys Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg457His Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg518His Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg546Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg547Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg557Trp Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg559Cys Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg590Gln Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg590Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg590Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg590Trp Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg593Trp Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg608Cys Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg608His Multiple submitters Inborn genetic diseases ⚠
p.Arg626Gln Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Arg626Trp Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
p.Arg77His Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asn117Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn136Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn536Ser Multiple submitters peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Asn98His Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asp139His Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asp182Asn Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asp207Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp286Asn Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asp401Asn Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asp465Glu Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asp505Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp505His Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Asp618Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp624Asn Multiple submitters peroxisome biogenesis disorder 2A (Zellweger)
p.Gln166Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln26His Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Gln325Glu Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Glu10Lys Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Glu224Lys Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Glu282Ala Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Glu348Asp Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Glu445Gln Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Glu540Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu61= Multiple submitters peroxisome biogenesis disorder 2B
p.Glu61Gly Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Glu65Asp Multiple submitters Inborn genetic diseases
p.Gly12Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly13Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly178Glu Multiple submitters peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Gly252Asp Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Gly451Glu Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Gly597Asp Multiple submitters peroxisome biogenesis disorder 2B
p.Ile222Val Multiple submitters rhizomelic chondrodysplasia punctata type 5 ⚠
p.Ile564Val Multiple submitters Inborn genetic diseases ⚠
p.Leu152Trp Multiple submitters Inborn genetic diseases ⚠
p.Leu351Pro Multiple submitters peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Leu462Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu515Val Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Leu611Val Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Leu6Pro Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Met298Thr Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Met613Val Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Phe498Cys Multiple submitters Inborn genetic diseases ⚠
p.Phe99Leu Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Pro151Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro39Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro41Leu Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Pro41Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser141Ala Multiple submitters peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Ser155Cys Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Ser199Asn Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Ser235Leu Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Ser283Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser461Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser617Thr Multiple submitters peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Thr316Met Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Thr404Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr441Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr633Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr81Ser Multiple submitters Inborn genetic diseases ⚠
p.Trp184Arg Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Tyr522Cys Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Val227Ala Multiple submitters Inborn genetic diseases ⚠
p.Val508Met Multiple submitters peroxisome biogenesis disorder 2B ⚠
p.Val517Ile Multiple submitters peroxisome biogenesis disorder 2B ⚠
c.1110+5G>A Single submitter peroxisome biogenesis disorder 2B
c.1181+4A>G Single submitter peroxisome biogenesis disorder 2B
c.137_147+122dup Single submitter peroxisome biogenesis disorder 2B
c.140_147+36del Single submitter peroxisome biogenesis disorder due to PEX5 defect
c.147+6T>C Single submitter peroxisome biogenesis disorder 2B
c.148-18T>C Single submitter peroxisome biogenesis disorder 2B
c.148-20T>G Single submitter peroxisome biogenesis disorder 2B
c.1560+3G>C Single submitter
c.1561-21C>A Single submitter
c.1561-3C>T Single submitter peroxisome biogenesis disorder 2B
c.1718+6A>C Single submitter peroxisome biogenesis disorder 2B
c.183+4A>G Single submitter peroxisome biogenesis disorder 2B
c.183+6T>G Single submitter peroxisome biogenesis disorder 2B
c.184-7C>G Single submitter
c.316+6T>C Single submitter peroxisome biogenesis disorder 2B
c.552-3C>T Single submitter peroxisome biogenesis disorder 2B
c.642+4del Single submitter
c.846+5G>A Single submitter peroxisome biogenesis disorder 2B
c.-16-149A>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-16-274G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-17+102G>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-17+240G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-17+249C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-17+65C>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-17+71G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-49G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-49G>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-53T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-55C>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.-69C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1080T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1089T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*10G>A Single submitter
c.*110G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1134T>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1134T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1139T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1251G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1259G>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*132C>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*137C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*171A>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*179A>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*1C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*249C>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*296C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*322C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*403C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*452G>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*495G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*506T>C Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*61C>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*627C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*677G>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*722G>A Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*766C>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*891A>G Single submitter peroxisome biogenesis disorder 2A (Zellweger)
c.*932A>T Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Ala106Val Single submitter ⚠
p.Ala119Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala14Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala21Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala233Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala238Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala244Ser Single submitter peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Ala245Thr Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala256Ser Single submitter ⚠
p.Ala293Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala354Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala360Thr Single submitter ⚠
p.Ala361Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala422Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala44Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala477Glu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala50Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala530Thr Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala544Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala57Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala582Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala582Val Single submitter Inborn genetic diseases ⚠
p.Ala623del Single submitter peroxisome biogenesis disorder 2B
p.Ala625Glu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Ala72Val Single submitter Inborn genetic diseases ⚠
p.Ala89Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg100His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg105Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg158His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg183Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg263Lys Single submitter ⚠
p.Arg301Gln Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg31Trp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg333Leu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg36Lys Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg36Thr Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg394= Single submitter peroxisome biogenesis disorder 2B
p.Arg394Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg420Gln Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg480Trp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg518Cys Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg546His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg547Trp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg557Gln Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg573Gln Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg573Gly Single submitter Inborn genetic diseases
p.Arg573Trp Single submitter peroxisome biogenesis disorder 2B
p.Arg593Gln Single submitter Inborn genetic diseases ⚠
p.Arg593Pro Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg77Cys Single submitter peroxisome biogenesis disorder 2B ⚠
p.Arg77Pro Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asn15Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asn353Asp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asn382Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asn98Asp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp139Glu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp186Tyr Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp193Glu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp207Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp259Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp27Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp27Tyr Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp311Glu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp321del Single submitter peroxisome biogenesis disorder 2B
p.Asp350Asn Single submitter peroxisome biogenesis disorder 2B
p.Asp401Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp428Asn Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp465= Single submitter peroxisome biogenesis disorder 2B
p.Asp627His Single submitter ⚠
p.Asp69Ala Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp69Asn Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp85Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Asp86Val Single submitter peroxisome biogenesis disorder 2B
p.Cys11Tyr Single submitter peroxisome biogenesis disorder 2B ⚠
p.Cys395Phe Single submitter ⚠
p.Cys423Arg Single submitter peroxisome biogenesis disorder 2B ⚠
p.Cys510Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln120Arg Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln249Glu Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln250His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln364His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln384Arg Single submitter peroxisome biogenesis disorder 2B
p.Gln537Arg Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln537His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln552His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln639His Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gln96Arg Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu10Gln Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu169del Single submitter peroxisome biogenesis disorder 2B
p.Glu169Gln Single submitter peroxisome biogenesis disorder 2B
p.Glu175Lys Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu230Ala Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu230Gln Single submitter Inborn genetic diseases ⚠
p.Glu273Gln Single submitter Inborn genetic diseases ⚠
p.Glu282= Single submitter peroxisome biogenesis disorder 2B
p.Glu282Asp Single submitter peroxisome biogenesis disorder 2B
p.Glu329del Single submitter peroxisome biogenesis disorder 2B
p.Glu33Asp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu416Lys Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu473Asp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu48Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu540Asp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu540Lys Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu59Asp Single submitter peroxisome biogenesis disorder 2A (Zellweger) ⚠
p.Glu8Asp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Glu8Gly Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly13Arg Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly13Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly223Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly22Arg Single submitter ⚠
p.Gly232Asp Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly232Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly236= Single submitter peroxisome biogenesis disorder 2A (Zellweger)
p.Gly236Arg Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly323Arg Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly34Arg Single submitter ⚠
p.Gly38Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly43Leu Single submitter
p.Gly43Val Single submitter ⚠
p.Gly453Ser Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly554Ser Single submitter peroxisome biogenesis disorder 2B
p.Gly55Val Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly563Cys Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly570Arg Single submitter peroxisome biogenesis disorder 2B ⚠
p.Gly594Asp Single submitter ⚠
p.Gly597Ser Single submitter Inborn genetic diseases ⚠
p.His189Asp Single submitter ⚠
p.His438Tyr Single submitter peroxisome biogenesis disorder 2B ⚠