Sugi Variant

Sugi Variant/PEX10

PEX10 — 799 ClinVar variants

All ClinVar germline PEX10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 254 flagged for review →

42 Pathogenic · 31 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 37 Conflicting · 19 Benign · 10 Benign/Likely benign · 288 Likely benign · 322 Uncertain significance

Full PEX10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 254

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

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 196

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 196

Predictors split 43

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

All PEX10 variants

Pathogenic 42

  • p.Arg244Ter Multiple submitters Zellweger spectrum disorders
  • p.Leu236fs Multiple submitters PEX10-related disorder
  • p.Met1Thr Multiple submitters peroxisome biogenesis disorder
  • c.600+1del Single submitter Zellweger spectrum disorders
  • c.601-14del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-39del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-4dup Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala159fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala163fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala213fs Single submitter peroxisome biogenesis disorder 6B
  • p.Arg214fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Asn270fs Single submitter peroxisome biogenesis disorder
  • p.Cys276Ser Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Cys296fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gln169fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gln243Ter Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu19Ter Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu278fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu71fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu71Ter Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly170fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly208Ter Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly70Glu Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.His290fs Single submitter
  • p.Ile184fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu113fs Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Leu98delinsCysTrpTer Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Lys247fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Lys41fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Met1Leu Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser130fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser303delinsThrTer Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Thr151fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Thr153fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Thr274_Cys276del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Trp144fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Trp249Ter Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Trp300_Cys301insTer Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Trp300Ter Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Tyr237fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Tyr66Ter Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Val222fs Single submitter Peroxisome biogenesis disorder, complementation group 7

Pathogenic/Likely pathogenic 31

  • c.600+1G>A Multiple submitters PEX10-related disorder
  • c.601-3_601-2del Multiple submitters Zellweger spectrum disorders
  • c.601-38_601-37del Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.601-3C>T Multiple submitters PEX10-related disorder
  • c.776+1G>C Multiple submitters Inborn genetic diseases
  • c.912+1G>C Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • p.Ala2fs Multiple submitters PEX10-related disorder
  • p.Ala5fs Multiple submitters peroxisome biogenesis disorder
  • p.Arg125Ter Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Arg142fs Multiple submitters Zellweger spectrum disorders
  • p.Arg265fs Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Asp122fs Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Gln118Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln235Ter Multiple submitters Zellweger spectrum disorders
  • p.Glu10fs Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • p.Glu116fs Multiple submitters peroxisome biogenesis disorder
  • p.Glu279Ter Multiple submitters Zellweger spectrum disorders
  • p.Gly140fs Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Gly254fs Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • p.His252fs Multiple submitters Zellweger spectrum disorders
  • p.His99fs Multiple submitters Zellweger spectrum disorders
  • p.Met1Ile Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Met1Val Multiple submitters PEX10-related disorder
  • p.Pro287fs Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Pro3fs Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Pro9fs Multiple submitters Zellweger spectrum disorders
  • p.Ser231_Gln235delinsTer Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ser53fs Multiple submitters Zellweger spectrum disorders
  • p.Trp181Ter Multiple submitters peroxisome biogenesis disorder
  • p.Tyr73Ter Multiple submitters Zellweger spectrum disorders
  • p.Val166fs Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)

Likely pathogenic 50

  • c.113-1G>A Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.776+1G>A Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.776+2T>C Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • c.777-1G>A Multiple submitters Zellweger spectrum disorders
  • c.913-1G>A Multiple submitters Zellweger spectrum disorders
  • p.Leu277Pro Multiple submitters Zellweger spectrum disorders
  • p.Thr196fs Multiple submitters Zellweger spectrum disorders
  • c.113-1G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+2_193+27delinsCCTCACCACACTTGCAGGTGTG Single submitter
  • c.193+2T>C Single submitter
  • c.194-2A>G Single submitter Zellweger spectrum disorders
  • c.601-18dup Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.601-5T>A Single submitter Zellweger spectrum disorders
  • c.601-61G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.773_776+17del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+1G>T Single submitter Zellweger spectrum disorders
  • p.Ala172fs Single submitter Zellweger spectrum disorders
  • p.Arg143fs Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Arg176fs Single submitter Zellweger spectrum disorders
  • p.Arg244fs Single submitter PEX10-related disorder
  • p.Arg83fs Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Cys276Phe Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gln175fs Single submitter peroxisome biogenesis disorder
  • p.Gln67Arg Single submitter peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Glu306fs Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu48fs Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Gly208fs Single submitter peroxisome biogenesis disorder
  • p.His282fs Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.His290Gln Single submitter Zellweger spectrum disorders
  • p.Ile198fs Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Leu25fs Single submitter Zellweger spectrum disorders
  • p.Leu272fs Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Met1_Ala6del Single submitter PEX10-related disorder
  • p.Pro112fs Single submitter peroxisome biogenesis disorder
  • p.Pro8fs Single submitter Zellweger spectrum disorders
  • p.Ser75fs Single submitter peroxisome biogenesis disorder
  • p.Thr149fs Single submitter peroxisome biogenesis disorder
  • p.Trp42Ter Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Trp45Ter Single submitter peroxisome biogenesis disorder
  • p.Tyr104Ter Single submitter PEX10-related disorder
  • p.Tyr189Ter Single submitter Zellweger spectrum disorders
  • p.Tyr200Ter Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Tyr20Ter Single submitter Zellweger spectrum disorders
  • c.194-1G>A No assertion criteria peroxisome biogenesis disorder 6A (Zellweger)
  • c.601-24_601-23del No assertion criteria peroxisome biogenesis disorder 6A (Zellweger)
  • c.601-26_601-25delinsCTC No assertion criteria peroxisome biogenesis disorder 6A (Zellweger)
  • c.776+2T>A No assertion criteria peroxisome biogenesis disorder 6A (Zellweger)
  • c.912+1G>A No assertion criteria peroxisome biogenesis disorder 6A (Zellweger)
  • p.Glu264Ter No assertion criteria peroxisome biogenesis disorder 6A (Zellweger)
  • p.Ser7fs No assertion criteria peroxisome biogenesis disorder 6A (Zellweger)

Conflicting classifications of pathogenicity 37

  • c.112+11G>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.194-5C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-27A>G Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.601-55G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-75G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+8C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-2A>C Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.913-3C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.-3G>A Single submitter
  • c.*10C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*7G>T Single submitter
  • p.Ala141= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala299Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala299Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala305= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg142Gln Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg204His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg250Lys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg26= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg311Gln Single submitter PEX10-related disorder ⚠
  • p.Asp18Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp18His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Glu19Asp Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Glu209= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly140Arg Single submitter peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Gly208Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly238Arg Single submitter peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.His185= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.His290Asp Single submitter Zellweger spectrum disorders ⚠
  • p.Leu211= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu255= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro121= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro207= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Thr149= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Trp294Ter Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Tyr237= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Val94Met Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠

Benign 19

  • c.600+282T>C Multiple submitters
  • c.776+33G>T Multiple submitters peroxisome biogenesis disorder 6B
  • c.913-4G>A Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.*11G>A Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • c.*173G>A Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • p.Arg281= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Gly93= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Met145Ile Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • p.Thr97= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.194-207G>A Single submitter
  • c.194-243del Single submitter
  • c.601-235A>G Single submitter
  • c.601-324C>T Single submitter
  • c.776+13dup Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-12del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-17del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-17dup Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-264G>C Single submitter
  • c.*352G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)

Benign/Likely benign 10

  • c.776+13del Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.-321+994C>G Multiple submitters
  • c.*595G>A Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • p.Cys288= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Leu106= Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • p.Leu111Pro Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Phe165= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Pro9= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Thr274Ala Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Val229Leu Multiple submitters Peroxisome biogenesis disorder, complementation group 7

Likely benign 288

  • c.113-26C>T Multiple submitters
  • c.194-10T>C Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.194-19C>T Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.600+14G>A Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.600+19G>A Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.601-52G>A Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.601-70A>G Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.601-76C>T Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.601-7C>T Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.776+12G>T Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.776+20A>G Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.776+9G>A Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.777-14C>T Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.912+13C>G Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.912+17C>T Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.912+18T>C Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.913-16T>C Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ala100= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ala192= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ala266= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ala299= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ala56= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Glu306= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Glu48= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.His257= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Leu171= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Leu220= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Pro287= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ser7= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ser82= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Thr196= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Thr199= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Thr298= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Tyr73= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Val164= Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.112+10G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.112+13C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.112+15C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.112+15C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.112+16G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.112+16G>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.112+19C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.112+20G>A Single submitter
  • c.112+89C>T Single submitter
  • c.112+9C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.112+9C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.113-11T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.113-14G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.113-18T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.113-19A>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.113-19del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.113-4_113-3del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.113-5C>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.113-62G>C Single submitter
  • c.113-7C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+12C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+14C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+14C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+15G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+16G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+20C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+8C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+9del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-11C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-11C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-13C>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-13C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-14C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-15T>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-17C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-4G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-4G>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-6T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.194-8C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.600+11G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.600+11G>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.600+12G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.600+13C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.600+16T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.600+19G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.600+20G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.600+8G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-12T>C Single submitter Inborn genetic diseases
  • c.601-13A>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-16G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-19G>A Single submitter
  • c.601-22T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-28G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-30C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-31C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-34G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-37C>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-43T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-58G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-65C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-66T>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-67C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-6T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-75G>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-79G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-80T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.762_776+10dup Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+10G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+11G>A Single submitter
  • c.776+11G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+13G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+14C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+14C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+15del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+7G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+9G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-10C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-12C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-13C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-15C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-16G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-17T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-19T>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-20C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-4C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.777-7T>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.912+10del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.912+14C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.912+16G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.912+19G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.912+20C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.912+48G>A Single submitter
  • c.913-11C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-14T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-15_913-14del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-15T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-17_913-16del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-17C>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-19C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-20C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-287C>T Single submitter
  • c.913-5C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.913-9T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.-23C>T Single submitter
  • c.-321+950_-321+972dup Single submitter
  • c.*102TC[1] Single submitter
  • c.*676C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Ala109= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala119= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala14= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala15= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala150= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala159= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala163= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala163Ser Single submitter Inborn genetic diseases
  • p.Ala2= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala213= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala260= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala28= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala285= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala29= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala32= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala37= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala39= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala4= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala5= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala6= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg13= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg142= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg146= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg157= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg158= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg162= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg176= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg194= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg202= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg212= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg253= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg258= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg311= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg326= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg46= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg83= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Asn270= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Asp122= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Asp18= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Cys273= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Cys276= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Cys296= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gln128= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gln155= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu10= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu278= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu279= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu295= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu71= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu72= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly124= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly129= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly132= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly170= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly186= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly208= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly221= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly289= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly30= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly31= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly38= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly59= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Gly65= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.His178= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.His227= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.His252= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.His85= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.His85Arg Single submitter Inborn genetic diseases
  • p.Ile12= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ile184= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ile223= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ile77= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu102= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu105= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu110= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu111= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu117= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu131= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu160= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu174= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu191= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu195= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu201= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu206= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu219= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu225= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu226= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu228= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu230= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu234= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu236= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu251= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu262= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu272= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu275= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu277= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu319= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu33= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu43= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu51= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu60= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu69= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Leu90= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Lys17= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Lys193= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Lys247= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Lys41= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Phe314= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro112= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro126= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro133= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro271= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro283= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro3= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro308= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro315= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro8= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Pro87= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser123= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser130= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser139= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser224= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser231= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser256= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser303= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser35= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser53= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser88= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser89= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ter327= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Thr153= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Thr286= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Thr61= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Thr68= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Tyr21= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Tyr321= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Val166= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Val179= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Val187= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Val215= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Val229= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Val74= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.193+6A>G No assertion criteria PEX10-related disorder
  • c.600+9C>G No assertion criteria PEX10-related disorder
  • c.-3G>C No assertion criteria PEX10-related disorder
  • c.-7C>T No assertion criteria PEX10-related disorder

Uncertain significance 322

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

  • c.601-18G>C Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • c.776+5G>A Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • c.*420G>A Multiple submitters peroxisome biogenesis disorder 6A (Zellweger)
  • p.Ala150Val Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala159Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala163Val Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala260Asp Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala2Ser Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala305Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala39Val Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg125Gln Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg142Trp Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg143Cys Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg143His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg146Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg146Gly Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg157Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg162Gln Multiple submitters peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Arg162Trp Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg176Gln Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg202His Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg202Ser Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg214Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg214His Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg218_Leu219dup Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Arg242Gln Multiple submitters peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Arg242Trp Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg244Gln Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg244Pro Multiple submitters Inborn genetic diseases
  • p.Arg253Cys Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg253Gly Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg253His Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg258His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg265Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg280Cys Multiple submitters peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Arg280His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg323Trp Multiple submitters peroxisome biogenesis disorder 6B ⚠
  • p.Arg326Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg326His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg326Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg83Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg91Cys Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg92Cys Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg92Gly Multiple submitters PEX10-related disorder ⚠
  • p.Arg92His Multiple submitters peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Glu114Gly Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Glu312Lys Multiple submitters Inborn genetic diseases
  • p.Gly254Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly289Ser Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.His34Gln Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.His99Arg Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ile223Thr Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Ile320Met Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ile320Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu113Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu195Phe Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu251Pro Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Lys17Arg Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Lys247Arg Multiple submitters peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Met232Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe314Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro121Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro271Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro8Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser89Leu Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser89Trp Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Thr149Met Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Thr199Met Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Thr274Ile Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Thr68Asn Multiple submitters ⚠
  • p.Thr97Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr97Met Multiple submitters Peroxisome biogenesis disorder, complementation group 7
  • p.Tyr104Asp Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Tyr183Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Val55Met Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val74Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val79Met Multiple submitters Peroxisome biogenesis disorder, complementation group 7 ⚠
  • c.601-1G>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-23G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-25G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-29T>C Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-33G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-36A>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-39C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-3C>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-42C>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-56C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-63C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-72_601-71del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.601-76C>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+15_776+33del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+4C>G Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.776+4C>T Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.912+8G>A Single submitter Peroxisome biogenesis disorder, complementation group 7
  • c.-18C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.-77G>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.-9C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*16G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*175T>C Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*304C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*310G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*3C>T Single submitter
  • c.*401A>C Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*410G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*445G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*499G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*594C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*627C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*643C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*686C>G Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*688G>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*732G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*782C>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*798C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*824G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*835C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*838C>T Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*854G>A Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*905A>C Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*91A>G Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • c.*951G>C Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Ala100Asp Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala141Glu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala141Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala141Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala14Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala159Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala15Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala15Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala172Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala180Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala213Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala260Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala305Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala37Glu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala4_Ala6del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ala4Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala5Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ala64Gly Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg136Cys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg136His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg13His Single submitter Inborn genetic diseases ⚠
  • p.Arg146His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg157Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg168Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg176Trp Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg194Lys Single submitter peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Arg202Cys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg202Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg204Cys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg204Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg214Gly Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg22Cys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg240Gly Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg240Lys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg246Lys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg253Leu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg258Cys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg258Gly Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg26Gln Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg281Gly Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg311Gly Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg311Trp Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg323Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg40Ser Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Arg83Gln Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg91His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Arg91Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Asp120Gly Single submitter ⚠
  • p.Asp120His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Asp122Asn Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Asp54Asn Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Asp54His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Asp80Glu Single submitter Inborn genetic diseases
  • p.Cys273Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Cys273Gly Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Cys307Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Cys307Tyr Single submitter ⚠
  • p.Cys310Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Cys310Tyr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gln115Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gln118Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gln169Arg Single submitter ⚠
  • p.Gln243His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gln243Leu Single submitter ⚠
  • p.Gln317Ter Single submitter
  • p.Glu10Ala Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Glu10Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu10Gly Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu116= Single submitter
  • p.Glu19Lys Single submitter ⚠
  • p.Glu248Asp Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Glu248Lys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Glu264del Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu279Lys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Glu50Lys Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Glu72Lys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly124Glu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly132Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly186Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly197Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly208Glu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly233Glu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly238Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly23Ala Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly23Asp Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly23Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly23Val Single submitter Inborn genetic diseases ⚠
  • p.Gly31Asp Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Gly70Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.His148Arg Single submitter peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.His148Gln Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.His178Arg Single submitter Zellweger spectrum disorders ⚠
  • p.His178Tyr Single submitter Inborn genetic diseases ⚠
  • p.His257Tyr Single submitter Inborn genetic diseases ⚠
  • p.His85Tyr Single submitter Inborn genetic diseases ⚠
  • p.His99Gln Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ile84Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu105Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu113Gln Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu127Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu160Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu174His Single submitter peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Leu201Val Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu211Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu226Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu230Met Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu251Met Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu262Trp Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu309fs Single submitter
  • p.Leu309His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu36Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu60Ile Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu60Phe Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Leu98Pro Single submitter Inborn genetic diseases ⚠
  • p.Lys304Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Lys318Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Lys318Glu Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Lys41Met Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Met145Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Phe239Cys Single submitter Inborn genetic diseases ⚠
  • p.Pro103Ala Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro121Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro207Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro271Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro271Thr Single submitter ⚠
  • p.Pro308Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro315Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro316Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro3Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro3Leu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro3Thr Single submitter ⚠
  • p.Pro8His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro8Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Pro9Gln Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser130Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser139Leu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser256Pro Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser256Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser261Cys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser302Asn Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser303Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser35Arg Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Ser35Thr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser7Arg Single submitter ⚠
  • p.Ser7Asn Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ser82Trp Single submitter Inborn genetic diseases ⚠
  • p.Ser88Tyr Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Ter327Arg Single submitter peroxisome biogenesis disorder 6A (Zellweger)
  • p.Thr149Arg Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Thr151Ile Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Thr286Met Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Thr68Ile Single submitter ⚠
  • p.Thr68Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Trp144Ser Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Trp249Arg Single submitter ⚠
  • p.Trp294Cys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Trp300Leu Single submitter peroxisome biogenesis disorder 6A (Zellweger) ⚠
  • p.Trp42Arg Single submitter ⚠
  • p.Tyr189Cys Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Tyr200= Single submitter Peroxisome biogenesis disorder, complementation group 7
  • p.Tyr21His Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val101Ile Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val11Met Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val166Ile Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val215Ile Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val222Ala Single submitter Inborn genetic diseases ⚠
  • p.Val222Ile Single submitter Inborn genetic diseases ⚠
  • p.Val222Phe Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val267Ile Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val94Leu Single submitter Peroxisome biogenesis disorder, complementation group 7 ⚠
  • p.Val96Leu Single submitter Inborn genetic diseases ⚠
  • c.193+6A>C No assertion criteria Zellweger spectrum disorders
  • c.601-41C>T No assertion criteria Zellweger spectrum disorders
  • c.601-48C>T No assertion criteria Zellweger spectrum disorders
  • c.776+5G>T No assertion criteria Zellweger spectrum disorders
  • c.777-6C>T No assertion criteria Zellweger spectrum disorders
  • c.777-9C>T No assertion criteria Zellweger spectrum disorders
  • c.913-9T>G No assertion criteria Zellweger spectrum disorders
  • c.-6G>T No assertion criteria Zellweger spectrum disorders