Sugi Variant

Sugi Variant/PEX14

PEX14 — 465 ClinVar variants

All ClinVar germline PEX14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →

1 Pathogenic · 4 Likely pathogenic · 40 Conflicting · 18 Benign · 11 Benign/Likely benign · 191 Likely benign · 200 Uncertain significance

Full PEX14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 172

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.

Predictors lean, ClinVar uncertain 137

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

Predictors split 25

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

All PEX14 variants

Pathogenic 1

  • p.Gln37Ter Single submitter peroxisome biogenesis disorder, complementation group K

Likely pathogenic 4

  • c.204_298+125delinsTATTCCTT Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+1G>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-5_306del Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+1G>T Single submitter peroxisome biogenesis disorder, complementation group K

Conflicting classifications of pathogenicity 40

  • c.170-13C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.170-4C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-8G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-8G>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+8G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.*7G>T Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • p.Ala120= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ala74= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Arg139Gln Single submitter peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • p.Arg376= Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • p.Asn201Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn269= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asn372= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asp304= Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • p.Asp331Glu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Asp332= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asp338Gly Single submitter peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • p.Gln9Leu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly110= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gly137= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gly151Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly285= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gly299= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gly352= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gly369= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Lys323Glu Single submitter Inborn genetic diseases ⚠
  • p.Pro101= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro10Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro367= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser158= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser158Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser265= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser275= Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • p.Ser275Leu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Thr272= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Thr31= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Tyr127= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Tyr99= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Val256Met Single submitter peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • p.Val89= Single submitter peroxisome biogenesis disorder, complementation group K

Benign 18

Benign/Likely benign 11

  • c.299-16C>T Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.384+17G>A Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.84+17T>C Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Ala117Ser Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Arg320Lys Multiple submitters peroxisome biogenesis disorder 13A (Zellweger)
  • p.Glu26= Multiple submitters peroxisome biogenesis disorder 13A (Zellweger)
  • p.Gly71= Multiple submitters peroxisome biogenesis disorder 13A (Zellweger)
  • p.His291= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Leu134Val Multiple submitters peroxisome biogenesis disorder 13A (Zellweger)
  • p.Ser70Ala Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Val256= Multiple submitters peroxisome biogenesis disorder 13A (Zellweger)

Likely benign 191

  • c.169+68C>T Multiple submitters
  • c.169+7G>C Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.298+10C>T Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.298+11C>T Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.298+12G>A Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.36+10G>A Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.36+18G>A Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.36+20C>T Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.384+16C>T Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.384+20T>G Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.385-11G>A Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.487+17C>T Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.586-18C>T Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.84+12A>G Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.85-288A>G Multiple submitters
  • p.Ala150= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Ala235= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Ala255= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Arg366= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Asn358= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Asp325= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Asp377= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Gly344= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Lys306= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Pro248= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Pro27= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Pro98= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Ser262= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Ser273= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Thr287= Multiple submitters peroxisome biogenesis disorder, complementation group K
  • c.169+12dup Single submitter peroxisome biogenesis disorder, complementation group K
  • c.169+17G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.170-11C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.170-143C>T Single submitter
  • c.170-14C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.170-4C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.170-8C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+10C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+11C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+11C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+12G>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+13C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+15C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+16A>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+17A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.298+7C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-10C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-11C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-19C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-20C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-5dup Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-6C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-7C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.299-9C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+14G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+15A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+16C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+18del Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+9A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.37-14A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.37-15C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.37-16C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.37-18T>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.37-20del Single submitter peroxisome biogenesis disorder, complementation group K
  • c.37-9T>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+12C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+13_384+14delinsAT Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+15G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+16C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+16C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+18G>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+7C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+9C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.384+9C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-11G>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-12C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-13C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-176G>A Single submitter
  • c.385-18C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-18C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-19C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-19C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-20C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-4G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-8del Single submitter peroxisome biogenesis disorder, complementation group K
  • c.385-9T>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.487+11A>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.487+12T>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.487+16T>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.487+17C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.487+9T>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.586-15G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.586-17C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.586-257C>T Single submitter
  • c.677+11G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.677+13A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.678-10C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.678-10C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.678-12T>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.678-13C>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.678-18C>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.678-6C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.678-9T>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.84+11A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.84+18G>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.84+20G>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.84+9C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.85-11T>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.85-13T>C Single submitter
  • c.85-19A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.85-5A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.85-6C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.85-8C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ala102= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ala160= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ala254= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Arg139= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Arg50= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asn21= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asn210= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asn217= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asp328= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asp349= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gln356= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gln43= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gln9= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Glu149= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Glu300= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Glu327= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Glu340= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Glu5= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gly294= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gly315= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.His259= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.His281= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.His336= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.His336Arg Single submitter Inborn genetic diseases
  • p.Ile115= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ile119= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ile243= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ile29= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ile357= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu131= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu136= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu155= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu204= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu219= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu224= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu343= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu36= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Lys143= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Lys213= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Lys246= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Lys278= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Lys319= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Lys323= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Lys363= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro10= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro133= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro231= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro233= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro236= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro244= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro250= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro283= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser11= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser214= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser251= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser271= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser3= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser4= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser70= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser78= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Thr16= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Thr197= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Thr200= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Thr48= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Thr84= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Tyr109= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Val159= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Val303= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Val313= Single submitter
  • p.Val33= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Val345= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Val361= Single submitter peroxisome biogenesis disorder, complementation group K
  • c.169+5A>G No assertion criteria PEX14-related disorder
  • c.678-4C>G No assertion criteria PEX14-related disorder
  • c.-10C>T No assertion criteria PEX14-related disorder
  • c.-9C>T No assertion criteria PEX14-related disorder
  • c.*6C>T No assertion criteria PEX14-related disorder
  • p.Glu329= No assertion criteria PEX14-related disorder

Uncertain significance 200

  • c.36+6G>T Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Ala102Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala254Val Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ala370Ser Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg105Gln Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg139Leu Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg142Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg350Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg376Trp Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg40Trp Multiple submitters peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • p.Asn201Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn38Asp Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Asp304Val Multiple submitters peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • p.Asp331_Asp332insGluGluAsp Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Asp64Asn Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Cys342Tyr Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gln6His Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu211Gln Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu211Lys Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu26Lys Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu330Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly110Ser Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly138Asp Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly294Asp Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly301Val Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.His336Gln Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ile209Thr Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Ile216Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile63Thr Multiple submitters peroxisome biogenesis disorder, complementation group K
  • p.Leu132Pro Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Leu145Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys55Gln Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Met311Leu Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro236Leu Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro248Gln Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro248Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro295His Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro295Ser Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro92Ala Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser11Gly Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser14Asn Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser273Leu Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser78Leu Multiple submitters peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • p.Ser79Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Thr272Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr287Met Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Thr31Met Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val288Ile Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val309Leu Multiple submitters peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • p.Val345Met Multiple submitters peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val361Met Multiple submitters peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • c.169+4C>T Single submitter peroxisome biogenesis disorder, complementation group K
  • c.170-14_170-13insGAGAAGAGGA Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.36+3A>G Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+5G>A Single submitter peroxisome biogenesis disorder, complementation group K
  • c.36+5G>C Single submitter peroxisome biogenesis disorder, complementation group K
  • c.677+6_677+8del Single submitter peroxisome biogenesis disorder, complementation group K
  • c.85-6C>G Single submitter
  • c.-7C>T Single submitter
  • c.*256A>G Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*369A>G Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*400G>T Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*459T>C Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*515C>T Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*564C>T Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*570C>T Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*576A>G Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*616C>T Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • c.*685A>T Single submitter peroxisome biogenesis disorder 13A (Zellweger)
  • p.Ala102Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ala111Thr Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ala150Val Single submitter Inborn genetic diseases ⚠
  • p.Ala235Pro Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ala2Leu Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ala47Glu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ala7= Single submitter
  • p.Ala7Thr Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ala7Val Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ala83Thr Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg107Gln Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg25Gln Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg320_Asp322del Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Arg351Gln Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg351Pro Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg351Trp Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg365Trp Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg366Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg40Gln Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg42Cys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Asn210Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Asn269Thr Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Asp141Asn Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Asp322Tyr Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Asp331Asn Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Asp332Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp333del Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asp333dup Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Asp333Tyr Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Cys342_Asp349del Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Gln161Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln242Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gln296Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln296His Single submitter peroxisome biogenesis disorder 13A (Zellweger) ⚠
  • p.Gln346Glu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gln346Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gln69Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln6Glu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gln90Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gln9Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu140Gly Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu154Gln Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu215Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu26Gly Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu284Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu297Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu297Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu316Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu318del Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Glu324Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu326Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu339Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu348Val Single submitter Inborn genetic diseases ⚠
  • p.Glu368fs Single submitter
  • p.Glu373_Ser374insTer Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Glu373Ala Single submitter Inborn genetic diseases
  • p.Glu373Asp Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu375Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu5Gly Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Glu8Gln Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly103Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly138Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly299Asp Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly344Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Gly353Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.His124Tyr Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.His93Gln Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ile115Met Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ile119Thr Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ile216Met Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Leu112Val Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Leu28= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Leu46Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu94Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Lys128Glu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Lys143Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Lys237Glu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Lys34Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Lys56= Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Met148Leu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Phe52Leu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Phe67Leu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro101Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro10Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro133Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro233Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro239Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro24Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro253fs Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Pro276Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro27Leu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro295Thr Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro45Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro77Leu Single submitter ⚠
  • p.Pro77Ser Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro82Leu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Pro91Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser104Phe Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser11Asn Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser11Cys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser15Cys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser199Cys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser218Pro Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser234Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser251Phe Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser274Pro Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser275del Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser286_Thr287insSerSer Single submitter peroxisome biogenesis disorder, complementation group K
  • p.Ser286Phe Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser286Pro Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser371Asn Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser374Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser374Asn Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Ser70Leu Single submitter Inborn genetic diseases
  • p.Ser96Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Thr162Lys Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Trp241Arg Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Tyr99His Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val245Phe Single submitter Inborn genetic diseases ⚠
  • p.Val256Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val267Ile Single submitter Inborn genetic diseases ⚠
  • p.Val302Leu Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val302Met Single submitter Inborn genetic diseases ⚠
  • p.Val303Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val305Ile Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val313Met Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val334Met Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val337Ala Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Val86Met Single submitter Inborn genetic diseases ⚠
  • p.Val87Ile Single submitter peroxisome biogenesis disorder, complementation group K ⚠
  • p.Arg366Trp No assertion criteria PEX14-related disorder ⚠