Sugi Variant

Sugi Variant/PEX6

PEX6 — 1843 ClinVar variants

All ClinVar germline PEX6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 576 flagged for review →

92 Pathogenic · 61 Pathogenic/Likely pathogenic · 139 Likely pathogenic · 76 Conflicting · 29 Benign · 18 Benign/Likely benign · 780 Likely benign · 648 Uncertain significance

Full PEX6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 576

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 6

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

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 425

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 425

Predictors split 117

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

All PEX6 variants

Pathogenic 92

  • c.1688+1G>A Multiple submitters peroxisome biogenesis disorder
  • p.Arg814Ter Multiple submitters Zellweger spectrum disorders
  • p.Asp268fs Multiple submitters Heimler syndrome 2
  • p.Cys358Ter Multiple submitters Heimler syndrome 2
  • p.Gln352Ter Multiple submitters peroxisome biogenesis disorder
  • p.Glu230fs Multiple submitters Heimler syndrome 2
  • p.Glu439fs Multiple submitters Zellweger spectrum disorders
  • p.Glu666Ter Multiple submitters peroxisome biogenesis disorder
  • p.Gly135fs Multiple submitters PEX6-related disorder
  • p.Gly473fs Multiple submitters peroxisome biogenesis disorder
  • p.Ile800fs Multiple submitters PEX6-related disorder
  • p.Ser232fs Multiple submitters Zellweger spectrum disorders
  • p.Trp105Ter Multiple submitters peroxisome biogenesis disorder
  • c.1688+1G>T Single submitter peroxisome biogenesis disorder
  • c.2094+2T>A Single submitter peroxisome biogenesis disorder
  • c.2094+2T>C Single submitter Zellweger spectrum disorders
  • c.2666+2T>C Single submitter Zellweger spectrum disorders
  • c.2667-2A>C Single submitter peroxisome biogenesis disorder
  • c.573_882+237delinsTGGTCA Single submitter peroxisome biogenesis disorder
  • p.Ala530fs Single submitter peroxisome biogenesis disorder
  • p.Ala96fs Single submitter peroxisome biogenesis disorder
  • p.Arg229fs Single submitter
  • p.Arg248fs Single submitter peroxisome biogenesis disorder
  • p.Arg349fs Single submitter peroxisome biogenesis disorder
  • p.Arg469_Leu491del Single submitter peroxisome biogenesis disorder
  • p.Arg469fs Single submitter peroxisome biogenesis disorder
  • p.Arg736fs Single submitter peroxisome biogenesis disorder
  • p.Arg812fs Single submitter peroxisome biogenesis disorder
  • p.Arg824fs Single submitter peroxisome biogenesis disorder
  • p.Arg99Leu Single submitter Heimler syndrome 2 ⚠
  • p.Asp172fs Single submitter peroxisome biogenesis disorder
  • p.Cys211fs Single submitter peroxisome biogenesis disorder
  • p.Cys358fs Single submitter peroxisome biogenesis disorder
  • p.Cys918_Asp920delinsTer Single submitter peroxisome biogenesis disorder
  • p.Gln219fs Single submitter peroxisome biogenesis disorder
  • p.Gln219Ter Single submitter peroxisome biogenesis disorder
  • p.Gln236Ter Single submitter peroxisome biogenesis disorder
  • p.Gln364Ter Single submitter
  • p.Gln512Ter Single submitter peroxisome biogenesis disorder
  • p.Gln584Ter Single submitter peroxisome biogenesis disorder
  • p.Gln600Ter Single submitter peroxisome biogenesis disorder
  • p.Gln73Ter Single submitter peroxisome biogenesis disorder
  • p.Gln840Ter Single submitter peroxisome biogenesis disorder
  • p.Glu246fs Single submitter peroxisome biogenesis disorder
  • p.Glu380fs Single submitter peroxisome biogenesis disorder
  • p.Glu380Ter Single submitter peroxisome biogenesis disorder
  • p.Glu426Ter Single submitter peroxisome biogenesis disorder
  • p.Glu502Ter Single submitter peroxisome biogenesis disorder
  • p.Glu787fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Glu804Ter Single submitter peroxisome biogenesis disorder
  • p.Gly27fs Single submitter
  • p.Gly299fs Single submitter peroxisome biogenesis disorder
  • p.Gly339fs Single submitter peroxisome biogenesis disorder 4B
  • p.Gly370fs Single submitter peroxisome biogenesis disorder
  • p.Gly709fs Single submitter peroxisome biogenesis disorder
  • p.Gly749fs Single submitter peroxisome biogenesis disorder
  • p.His406fs Single submitter peroxisome biogenesis disorder
  • p.Leu131fs Single submitter peroxisome biogenesis disorder
  • p.Leu251_Ser252insTer Single submitter peroxisome biogenesis disorder
  • p.Leu277fs Single submitter peroxisome biogenesis disorder
  • p.Leu286fs Single submitter peroxisome biogenesis disorder
  • p.Leu453fs Single submitter peroxisome biogenesis disorder
  • p.Leu499fs Single submitter peroxisome biogenesis disorder
  • p.Leu561fs Single submitter peroxisome biogenesis disorder
  • p.Leu602fs Single submitter peroxisome biogenesis disorder
  • p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer Single submitter peroxisome biogenesis disorder
  • p.Lys386Ter Single submitter peroxisome biogenesis disorder
  • p.Lys889Glu Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Met1Ile Single submitter peroxisome biogenesis disorder 4B
  • p.Met1Lys Single submitter Heimler syndrome 2
  • p.Met1Thr Single submitter peroxisome biogenesis disorder
  • p.Pro143fs Single submitter peroxisome biogenesis disorder
  • p.Pro451fs Single submitter peroxisome biogenesis disorder
  • p.Pro565fs Single submitter peroxisome biogenesis disorder
  • p.Pro71fs Single submitter peroxisome biogenesis disorder
  • p.Ser231Ter Single submitter peroxisome biogenesis disorder
  • p.Ser235Ter Single submitter peroxisome biogenesis disorder
  • p.Ser597Ter Single submitter peroxisome biogenesis disorder
  • p.Ser603fs Single submitter peroxisome biogenesis disorder
  • p.Thr688fs Single submitter peroxisome biogenesis disorder
  • p.Thr759fs Single submitter peroxisome biogenesis disorder
  • p.Trp224Ter Single submitter peroxisome biogenesis disorder
  • p.Trp29Ter Single submitter peroxisome biogenesis disorder
  • p.Trp421Ter Single submitter peroxisome biogenesis disorder
  • p.Trp430fs Single submitter peroxisome biogenesis disorder
  • p.Tyr636Ter Single submitter peroxisome biogenesis disorder
  • p.Val273fs Single submitter peroxisome biogenesis disorder
  • p.Val92Gly Single submitter Heimler syndrome 2 ⚠
  • c.621_882+2del No assertion criteria peroxisome biogenesis disorder 4B
  • p.Leu534Pro No assertion criteria peroxisome biogenesis disorder 4B
  • p.Ser434fs No assertion criteria peroxisome biogenesis disorder 4A (Zellweger)
  • p.Val359fs No assertion criteria

Pathogenic/Likely pathogenic 61

  • c.1962-1G>A Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • c.2364_2365del Multiple submitters Zellweger spectrum disorders
  • c.2807-2A>G Multiple submitters Heimler syndrome 2
  • c.882+1G>A Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ala447fs Multiple submitters peroxisome biogenesis disorder
  • p.Ala4fs Multiple submitters Zellweger spectrum disorders
  • p.Ala912Thr Multiple submitters Zellweger spectrum disorders
  • p.Ala912Val Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Arg343fs Multiple submitters Heimler syndrome 2
  • p.Arg601Trp Multiple submitters Zellweger spectrum disorders
  • p.Arg860Trp Multiple submitters PEX6-related disorder
  • p.Asn233fs Multiple submitters Zellweger spectrum disorders
  • p.Asp305fs Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Cys564fs Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Cys647Ter Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Gln243Ter Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Gln346Ter Multiple submitters Heimler syndrome 2
  • p.Gln454Ter Multiple submitters peroxisome biogenesis disorder
  • p.Gln692Ter Multiple submitters Heimler syndrome 2
  • p.Gln908Ter Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Glu129fs Multiple submitters peroxisome biogenesis disorder
  • p.Glu169fs Multiple submitters Heimler syndrome 2
  • p.Glu290fs Multiple submitters peroxisome biogenesis disorder
  • p.Glu304fs Multiple submitters peroxisome biogenesis disorder
  • p.Glu320fs Multiple submitters peroxisome biogenesis disorder
  • p.Glu366fs Multiple submitters Zellweger spectrum disorders
  • p.Glu508fs Multiple submitters Zellweger spectrum disorders
  • p.Glu592Ter Multiple submitters Heimler syndrome 2
  • p.Gly104fs Multiple submitters Zellweger spectrum disorders
  • p.Gly171fs Multiple submitters Zellweger spectrum disorders
  • p.Gly470Ala Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Gly671fs Multiple submitters Heimler syndrome 2
  • p.Gly695fs Multiple submitters Zellweger spectrum disorders
  • p.Ile362fs Multiple submitters Heimler syndrome 2
  • p.Ile650fs Multiple submitters peroxisome biogenesis disorder 4B
  • p.Leu401Ter Multiple submitters Heimler syndrome 2
  • p.Leu614fs Multiple submitters PEX6-related disorder
  • p.Leu80fs Multiple submitters peroxisome biogenesis disorder
  • p.Lys306fs Multiple submitters peroxisome biogenesis disorder
  • p.Met1Leu Multiple submitters Heimler syndrome 2
  • p.Pro100fs Multiple submitters Heimler syndrome 2
  • p.Pro168fs Multiple submitters Zellweger spectrum disorders
  • p.Pro177fs Multiple submitters PEX6-related disorder
  • p.Pro179fs Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Pro274Leu Multiple submitters PEX6-related disorder ⚠
  • p.Pro472fs Multiple submitters Zellweger spectrum disorders
  • p.Ser173fs Multiple submitters Zellweger spectrum disorders
  • p.Ser204Ter Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ser308fs Multiple submitters PEX6-related disorder
  • p.Ser443fs Multiple submitters Heimler syndrome 2
  • p.Thr572Ile Multiple submitters peroxisome biogenesis disorder
  • p.Trp224fs Multiple submitters peroxisome biogenesis disorder
  • p.Trp249Ter Multiple submitters Zellweger spectrum disorders
  • p.Trp378Ter Multiple submitters peroxisome biogenesis disorder
  • p.Trp91Ter Multiple submitters Heimler syndrome 2
  • p.Tyr331Ter Multiple submitters peroxisome biogenesis disorder
  • p.Val525fs Multiple submitters peroxisome biogenesis disorder
  • p.Val54_Leu81del Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Val631fs Multiple submitters Zellweger spectrum disorders
  • p.Val901fs Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Val97Gly Multiple submitters PEX6-related disorder ⚠

Likely pathogenic 139

  • c.1130+1G>A Multiple submitters peroxisome biogenesis disorder
  • c.1233+1G>A Multiple submitters Heimler syndrome 2
  • c.1368-2del Multiple submitters Heimler syndrome 2
  • c.1689-1G>A Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • c.1885-1G>A Multiple submitters peroxisome biogenesis disorder
  • c.1961+1G>A Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • c.2094+1G>A Multiple submitters Heimler syndrome 2
  • c.2095-2A>G Multiple submitters PEX6-related disorder
  • c.2300+2T>C Multiple submitters Heimler syndrome 2
  • c.2362+1G>A Multiple submitters peroxisome biogenesis disorder
  • c.2363-2A>C Multiple submitters peroxisome biogenesis disorder
  • c.2363-2A>G Multiple submitters peroxisome biogenesis disorder
  • c.2589-1G>T Multiple submitters Zellweger spectrum disorders
  • c.2666+1G>T Multiple submitters Heimler syndrome 2
  • p.Arg860Gln Multiple submitters PEX6-related disorder
  • p.Cys167fs Multiple submitters Heimler syndrome 2
  • p.Gln711Ter Multiple submitters Zellweger spectrum disorders
  • p.Glu221Ter Multiple submitters Heimler syndrome 2
  • p.Glu772Ter Multiple submitters Zellweger spectrum disorders
  • p.Gly413Val Multiple submitters peroxisome biogenesis disorder
  • p.Leu57Pro Multiple submitters PEX6-related disorder ⚠
  • p.Leu808fs Multiple submitters Heimler syndrome 2
  • p.Pro136fs Multiple submitters Zellweger spectrum disorders
  • p.Pro810fs Multiple submitters Heimler syndrome 2
  • p.Val365fs Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Val92_Arg93del Multiple submitters Zellweger spectrum disorders
  • c.1046+1del Single submitter Heimler syndrome 2
  • c.1046+1G>T Single submitter peroxisome biogenesis disorder
  • c.1233+2T>C Single submitter Heimler syndrome 2
  • c.1234-1G>A Single submitter Zellweger spectrum disorders
  • c.1234-1G>T Single submitter peroxisome biogenesis disorder
  • c.1234-2A>G Single submitter peroxisome biogenesis disorder
  • c.1293_1367+57del Single submitter peroxisome biogenesis disorder
  • c.1367+1G>A Single submitter peroxisome biogenesis disorder
  • c.1367+1G>T Single submitter Heimler syndrome 2
  • c.1367+2T>A Single submitter peroxisome biogenesis disorder
  • c.1367+2T>C Single submitter peroxisome biogenesis disorder
  • c.1369_1370dup Single submitter Heimler syndrome 2
  • c.1479+1G>A Single submitter peroxisome biogenesis disorder
  • c.1479+2del Single submitter peroxisome biogenesis disorder
  • c.1480-1G>A Single submitter Heimler syndrome 2
  • c.1884+1G>A Single submitter peroxisome biogenesis disorder
  • c.2301-1G>T Single submitter Heimler syndrome 2
  • c.2471+1G>A Single submitter peroxisome biogenesis disorder
  • c.2472-1G>A Single submitter peroxisome biogenesis disorder
  • c.2472-2A>G Single submitter peroxisome biogenesis disorder
  • c.2588+1G>C Single submitter Zellweger spectrum disorders
  • c.2589-1G>A Single submitter peroxisome biogenesis disorder
  • c.2667-2A>G Single submitter peroxisome biogenesis disorder
  • c.2806+1del Single submitter Heimler syndrome 2
  • c.2806+1G>A Single submitter Heimler syndrome 2
  • c.2807-1G>A Single submitter PEX6-related disorder
  • c.882+1G>T Single submitter Heimler syndrome 2
  • c.883-2A>G Single submitter peroxisome biogenesis disorder
  • c.883-6_887del Single submitter peroxisome biogenesis disorder
  • p.Ala458fs Single submitter Heimler syndrome 2
  • p.Ala501fs Single submitter Heimler syndrome 2
  • p.Ala628fs Single submitter Zellweger spectrum disorders
  • p.Ala645fs Single submitter Heimler syndrome 2
  • p.Ala656fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ala676fs Single submitter
  • p.Ala756fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ala85fs Single submitter Heimler syndrome 2
  • p.Ala94Pro Single submitter Heimler syndrome 2 ⚠
  • p.Arg119Ter Single submitter Heimler syndrome 2
  • p.Arg319fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Arg812Gln Single submitter peroxisome biogenesis disorder
  • p.Arg814fs Single submitter Heimler syndrome 2
  • p.Arg888fs Single submitter Heimler syndrome 2
  • p.Asn280Ter Single submitter Heimler syndrome 2
  • p.Asn784fs Single submitter Zellweger spectrum disorders
  • p.Asn849fs Single submitter
  • p.Asn900fs Single submitter Zellweger spectrum disorders
  • p.Asp855fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Asp932fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Cys484Ter Single submitter Heimler syndrome 2
  • p.Cys500_Glu502delinsTer Single submitter Zellweger spectrum disorders
  • p.Cys627Ter Single submitter Heimler syndrome 2
  • p.Gln600fs Single submitter Heimler syndrome 2
  • p.Gln681Ter Single submitter Heimler syndrome 2
  • p.Gln722fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Gln722Ter Single submitter Heimler syndrome 2
  • p.Gln780Ter Single submitter Zellweger spectrum disorders
  • p.Gln828Ter Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Glu15fs Single submitter Heimler syndrome 2
  • p.Glu45Ter Single submitter PEX6-related disorder
  • p.Glu66Ter Single submitter Heimler syndrome 2
  • p.Glu684Ter Single submitter Heimler syndrome 2
  • p.Glu719fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Glu772fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Gly282fs Single submitter PEX6-related disorder
  • p.Gly413fs Single submitter Heimler syndrome 2
  • p.Gly437fs Single submitter Heimler syndrome 2
  • p.Gly44fs Single submitter Zellweger spectrum disorders
  • p.Gly470fs Single submitter Zellweger spectrum disorders
  • p.Gly708fs Single submitter Zellweger spectrum disorders
  • p.Gly862Arg Single submitter peroxisome biogenesis disorder
  • p.His611fs Single submitter
  • p.His743fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ile367fs Single submitter Heimler syndrome 2
  • p.Leu155fs Single submitter Zellweger spectrum disorders
  • p.Leu266fs Single submitter Zellweger spectrum disorders
  • p.Leu277Ter Single submitter Heimler syndrome 2
  • p.Leu291fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Leu297Ter Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Leu468fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Leu614Pro Single submitter PEX6-related disorder ⚠
  • p.Leu674fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Leu735fs Single submitter Heimler syndrome 2
  • p.Leu80Pro Single submitter PEX6-related disorder ⚠
  • p.Leu854fs Single submitter Heimler syndrome 2
  • p.Leu880fs Single submitter Heimler syndrome 2
  • p.Lys374fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Lys927fs Single submitter Heimler syndrome 2
  • p.Phe802fs Single submitter Heimler syndrome 2
  • p.Pro132fs Single submitter Zellweger spectrum disorders
  • p.Pro180fs Single submitter Heimler syndrome 2
  • p.Pro18fs Single submitter Heimler syndrome 2
  • p.Pro376fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Pro746fs Single submitter Heimler syndrome 2
  • p.Ser310Leu Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ser408del Single submitter peroxisome biogenesis disorder 2B
  • p.Ser781fs Single submitter Heimler syndrome 2
  • p.Ser807fs Single submitter Heimler syndrome 2
  • p.Thr201fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Thr609fs Single submitter Heimler syndrome 2
  • p.Thr764fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Trp704fs Single submitter Heimler syndrome 2
  • p.Tyr400Ter Single submitter Heimler syndrome 2
  • p.Tyr410_Met411delinsTer Single submitter Heimler syndrome 2
  • p.Val223fs Single submitter Zellweger spectrum disorders
  • p.Val547fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Val788fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Val821fs Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Val896fs Single submitter Heimler syndrome 2
  • c.1046+1G>A No assertion criteria peroxisome biogenesis disorder 4A (Zellweger)
  • p.Glu129Val No assertion criteria Heimler syndrome 2 ⚠
  • p.Leu898fs No assertion criteria peroxisome biogenesis disorder 4A (Zellweger)
  • p.Met1Arg No assertion criteria peroxisome biogenesis disorder 4A (Zellweger)

Conflicting classifications of pathogenicity 76

  • c.1047-4G>T Single submitter peroxisome biogenesis disorder
  • c.1130+2T>C Single submitter Zellweger spectrum disorders
  • c.1131-3C>A Single submitter peroxisome biogenesis disorder
  • c.1234-10C>T Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • c.1234-11A>G Single submitter peroxisome biogenesis disorder
  • c.1367+10G>A Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • c.1884+3G>A Single submitter peroxisome biogenesis disorder
  • c.2095-21_2095-10del Single submitter Heimler syndrome 2
  • c.2301-5_2301-2del Single submitter peroxisome biogenesis disorder
  • c.2667-10C>A Single submitter peroxisome biogenesis disorder
  • c.882+4G>A Single submitter peroxisome biogenesis disorder
  • c.*438TAAA[1] Single submitter peroxisome biogenesis disorder
  • p.Ala402= Single submitter peroxisome biogenesis disorder
  • p.Ala483del Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ala586Val Single submitter Heimler syndrome 2 ⚠
  • p.Ala676Thr Single submitter peroxisome biogenesis disorder ⚠
  • p.Ala693Asp Single submitter peroxisome biogenesis disorder ⚠
  • p.Ala79Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala831= Single submitter peroxisome biogenesis disorder
  • p.Ala912= Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Arg163Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg254= Single submitter peroxisome biogenesis disorder
  • p.Arg41= Single submitter peroxisome biogenesis disorder
  • p.Arg517Pro Single submitter peroxisome biogenesis disorder ⚠
  • p.Arg522Gln Single submitter peroxisome biogenesis disorder 4A (Zellweger) ⚠
  • p.Arg601Gln Single submitter Zellweger spectrum disorders ⚠
  • p.Arg606Gln Single submitter peroxisome biogenesis disorder ⚠
  • p.Arg644Trp Single submitter PEX6-related disorder ⚠
  • p.Arg786Trp Single submitter PEX6-related disorder ⚠
  • p.Arg812Trp Single submitter peroxisome biogenesis disorder ⚠
  • p.Arg860Pro Single submitter peroxisome biogenesis disorder 4B ⚠
  • p.Arg876Trp Single submitter peroxisome biogenesis disorder 4A (Zellweger) ⚠
  • p.Arg888His Single submitter peroxisome biogenesis disorder 4A (Zellweger) ⚠
  • p.Arg888Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg888Pro Single submitter peroxisome biogenesis disorder 4A (Zellweger) ⚠
  • p.Arg99Trp Single submitter peroxisome biogenesis disorder
  • p.Asn557Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn849= Single submitter peroxisome biogenesis disorder
  • p.Asn873= Single submitter peroxisome biogenesis disorder
  • p.Asn900= Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Asp253= Single submitter peroxisome biogenesis disorder
  • p.Asp338= Single submitter peroxisome biogenesis disorder
  • p.Asp559Glu Single submitter peroxisome biogenesis disorder ⚠
  • p.Cys905Phe Single submitter Heimler syndrome 2 ⚠
  • p.Gln227= Single submitter peroxisome biogenesis disorder
  • p.Gln227Arg Single submitter peroxisome biogenesis disorder ⚠
  • p.Gln454= Single submitter peroxisome biogenesis disorder
  • p.Gln73= Single submitter peroxisome biogenesis disorder
  • p.Gln959Ter Single submitter
  • p.Glu592Gln Single submitter peroxisome biogenesis disorder 4A (Zellweger) ⚠
  • p.Glu592Lys Single submitter peroxisome biogenesis disorder ⚠
  • p.Glu716= Single submitter peroxisome biogenesis disorder
  • p.Gly121= Single submitter peroxisome biogenesis disorder
  • p.Gly220Val Single submitter Zellweger spectrum disorders ⚠
  • p.Gly269= Single submitter peroxisome biogenesis disorder
  • p.Gly437Asp Single submitter Zellweger spectrum disorders ⚠
  • p.Gly749Ser Single submitter peroxisome biogenesis disorder 1A (Zellweger) ⚠
  • p.Gly862Val Single submitter peroxisome biogenesis disorder ⚠
  • p.Leu468del Single submitter peroxisome biogenesis disorder 4B
  • p.Leu9= Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Met1Val Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Met411Val Single submitter PEX6-related disorder ⚠
  • p.Phe12Ser Single submitter Zellweger spectrum disorders ⚠
  • p.Phe218Leu Single submitter Heimler syndrome 2 ⚠
  • p.Pro285Ala Single submitter peroxisome biogenesis disorder 4A (Zellweger) ⚠
  • p.Pro313= Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Pro455= Single submitter peroxisome biogenesis disorder 4A (Zellweger)
  • p.Pro728Leu Single submitter Heimler syndrome 2 ⚠
  • p.Pro728Ser Single submitter peroxisome biogenesis disorder ⚠
  • p.Ser485= Single submitter peroxisome biogenesis disorder
  • p.Ter981= Single submitter peroxisome biogenesis disorder
  • p.Thr407Asn Single submitter peroxisome biogenesis disorder 4A (Zellweger) ⚠
  • p.Thr573Ile Single submitter Inborn genetic diseases ⚠
  • p.Val181= Single submitter peroxisome biogenesis disorder
  • p.Val694Ile Single submitter peroxisome biogenesis disorder 4A (Zellweger) ⚠
  • p.Val788Met Single submitter Zellweger spectrum disorders ⚠

Benign 29

Benign/Likely benign 18

  • c.1480-5C>T Multiple submitters Heimler syndrome 2
  • c.2806+14C>T Multiple submitters peroxisome biogenesis disorder
  • c.882+15_882+16del Multiple submitters peroxisome biogenesis disorder
  • p.Ala549Val Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ala79Pro Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ala809Val Multiple submitters Heimler syndrome 2
  • p.Ala924Ser Multiple submitters peroxisome biogenesis disorder
  • p.Ala956Val Multiple submitters peroxisome biogenesis disorder
  • p.Ala979Val Multiple submitters peroxisome biogenesis disorder
  • p.Arg343Gln Multiple submitters peroxisome biogenesis disorder
  • p.Arg812= Multiple submitters peroxisome biogenesis disorder
  • p.Asp403Asn Multiple submitters peroxisome biogenesis disorder ⚠
  • p.Gly70= Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ile323= Multiple submitters peroxisome biogenesis disorder
  • p.Leu357= Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ser497= Multiple submitters peroxisome biogenesis disorder
  • p.Val844Ala Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Val882Ile Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)

Likely benign 780

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

  • c.1234-20C>T Multiple submitters peroxisome biogenesis disorder
  • c.1368-15G>A Multiple submitters peroxisome biogenesis disorder
  • c.1479+7G>A Multiple submitters peroxisome biogenesis disorder
  • c.1480-14G>A Multiple submitters peroxisome biogenesis disorder
  • c.1480-18T>C Multiple submitters peroxisome biogenesis disorder
  • c.1688+33G>A Multiple submitters
  • c.1688+88C>T Multiple submitters
  • c.1689-19C>T Multiple submitters peroxisome biogenesis disorder
  • c.1689-60G>A Multiple submitters
  • c.1885-109C>A Multiple submitters
  • c.1885-8T>G Multiple submitters peroxisome biogenesis disorder
  • c.1961+10C>T Multiple submitters peroxisome biogenesis disorder
  • c.1961+11G>A Multiple submitters peroxisome biogenesis disorder
  • c.1961+19C>T Multiple submitters peroxisome biogenesis disorder
  • c.1962-15T>C Multiple submitters peroxisome biogenesis disorder
  • c.2095-19C>T Multiple submitters peroxisome biogenesis disorder
  • c.2363-12C>G Multiple submitters peroxisome biogenesis disorder
  • c.2588+13T>G Multiple submitters peroxisome biogenesis disorder
  • c.2666+14G>A Multiple submitters peroxisome biogenesis disorder
  • c.2667-64G>A Multiple submitters
  • c.2806+15G>A Multiple submitters peroxisome biogenesis disorder
  • c.2806+78G>A Multiple submitters
  • c.2807-17C>A Multiple submitters peroxisome biogenesis disorder
  • c.882+15del Multiple submitters peroxisome biogenesis disorder
  • c.882+86G>C Multiple submitters
  • c.882+8A>G Multiple submitters peroxisome biogenesis disorder
  • c.883-8T>C Multiple submitters peroxisome biogenesis disorder
  • c.*212C>T Multiple submitters peroxisome biogenesis disorder 4A (Zellweger)
  • p.Ala156= Multiple submitters peroxisome biogenesis disorder
  • p.Ala302Thr Multiple submitters Inborn genetic diseases
  • p.Ala794= Multiple submitters peroxisome biogenesis disorder
  • p.Ala955= Multiple submitters peroxisome biogenesis disorder
  • p.Ala978= Multiple submitters peroxisome biogenesis disorder
  • p.Arg209= Multiple submitters peroxisome biogenesis disorder
  • p.Arg229Gly Multiple submitters peroxisome biogenesis disorder
  • p.Arg379= Multiple submitters peroxisome biogenesis disorder
  • p.Arg575= Multiple submitters peroxisome biogenesis disorder
  • p.Asp268= Multiple submitters peroxisome biogenesis disorder
  • p.Asp865= Multiple submitters peroxisome biogenesis disorder
  • p.Asp903= Multiple submitters peroxisome biogenesis disorder
  • p.Glu230= Multiple submitters peroxisome biogenesis disorder
  • p.Glu324Lys Multiple submitters peroxisome biogenesis disorder
  • p.Glu391Lys Multiple submitters peroxisome biogenesis disorder
  • p.Glu760= Multiple submitters peroxisome biogenesis disorder
  • p.Gly505= Multiple submitters peroxisome biogenesis disorder
  • p.Gly708= Multiple submitters peroxisome biogenesis disorder
  • p.Gly770= Multiple submitters peroxisome biogenesis disorder
  • p.His330= Multiple submitters peroxisome biogenesis disorder
  • p.His743= Multiple submitters peroxisome biogenesis disorder
  • p.Ile301= Multiple submitters peroxisome biogenesis disorder
  • p.Ile799= Multiple submitters peroxisome biogenesis disorder
  • p.Leu131= Multiple submitters peroxisome biogenesis disorder
  • p.Leu40= Multiple submitters peroxisome biogenesis disorder
  • p.Leu453= Multiple submitters peroxisome biogenesis disorder
  • p.Leu579= Multiple submitters peroxisome biogenesis disorder
  • p.Leu591= Multiple submitters peroxisome biogenesis disorder
  • p.Leu605= Multiple submitters peroxisome biogenesis disorder
  • p.Leu952= Multiple submitters peroxisome biogenesis disorder
  • p.Phe515= Multiple submitters peroxisome biogenesis disorder
  • p.Pro265= Multiple submitters peroxisome biogenesis disorder
  • p.Pro28= Multiple submitters peroxisome biogenesis disorder
  • p.Pro566= Multiple submitters peroxisome biogenesis disorder
  • p.Ser184= Multiple submitters peroxisome biogenesis disorder
  • p.Ser417= Multiple submitters peroxisome biogenesis disorder
  • p.Ser504= Multiple submitters peroxisome biogenesis disorder
  • p.Ser701= Multiple submitters peroxisome biogenesis disorder
  • p.Ser781= Multiple submitters peroxisome biogenesis disorder
  • p.Thr130= Multiple submitters peroxisome biogenesis disorder
  • p.Thr529= Multiple submitters peroxisome biogenesis disorder
  • p.Thr748= Multiple submitters Inborn genetic diseases
  • p.Thr910= Multiple submitters peroxisome biogenesis disorder
  • p.Val244= Multiple submitters peroxisome biogenesis disorder
  • p.Val826= Multiple submitters peroxisome biogenesis disorder
  • c.1046+12A>T Single submitter peroxisome biogenesis disorder
  • c.1046+14C>T Single submitter peroxisome biogenesis disorder
  • c.1046+15C>A Single submitter peroxisome biogenesis disorder
  • c.1046+15C>T Single submitter peroxisome biogenesis disorder
  • c.1046+16T>A Single submitter peroxisome biogenesis disorder
  • c.1046+19T>C Single submitter peroxisome biogenesis disorder
  • c.1046+20A>T Single submitter peroxisome biogenesis disorder
  • c.1046+250del Single submitter
  • c.1046+257G>A Single submitter
  • c.1046+3_1046+7dup Single submitter peroxisome biogenesis disorder
  • c.1047-17C>T Single submitter peroxisome biogenesis disorder
  • c.1047-4G>A Single submitter peroxisome biogenesis disorder
  • c.1047-76G>A Single submitter
  • c.1047-7G>A Single submitter peroxisome biogenesis disorder
  • c.1047-7G>T Single submitter Zellweger spectrum disorders
  • c.1130+10T>C Single submitter peroxisome biogenesis disorder
  • c.1130+13C>T Single submitter peroxisome biogenesis disorder
  • c.1130+18G>A Single submitter peroxisome biogenesis disorder
  • c.1130+18G>C Single submitter peroxisome biogenesis disorder
  • c.1130+7A>G Single submitter peroxisome biogenesis disorder
  • c.1130+95C>T Single submitter
  • c.1131-106G>A Single submitter
  • c.1131-10T>C Single submitter peroxisome biogenesis disorder
  • c.1131-13C>G Single submitter peroxisome biogenesis disorder
  • c.1131-13del Single submitter peroxisome biogenesis disorder
  • c.1131-18T>C Single submitter peroxisome biogenesis disorder
  • c.1131-19T>A Single submitter peroxisome biogenesis disorder
  • c.1131-19T>C Single submitter peroxisome biogenesis disorder
  • c.1131-20A>C Single submitter peroxisome biogenesis disorder
  • c.1131-20A>T Single submitter peroxisome biogenesis disorder
  • c.1131-5T>C Single submitter
  • c.1131-7C>T Single submitter peroxisome biogenesis disorder
  • c.1131-8T>C Single submitter peroxisome biogenesis disorder
  • c.1131-9T>C Single submitter peroxisome biogenesis disorder
  • c.1233+10C>T Single submitter peroxisome biogenesis disorder
  • c.1233+11A>T Single submitter peroxisome biogenesis disorder
  • c.1233+12A>T Single submitter peroxisome biogenesis disorder
  • c.1233+14G>A Single submitter peroxisome biogenesis disorder
  • c.1233+15A>G Single submitter peroxisome biogenesis disorder
  • c.1233+16T>C Single submitter peroxisome biogenesis disorder
  • c.1233+19G>C Single submitter peroxisome biogenesis disorder
  • c.1233+20T>A Single submitter peroxisome biogenesis disorder
  • c.1233+9C>T Single submitter peroxisome biogenesis disorder
  • c.1234-11A>T Single submitter peroxisome biogenesis disorder
  • c.1234-11del Single submitter peroxisome biogenesis disorder
  • c.1234-14A>G Single submitter peroxisome biogenesis disorder
  • c.1234-15T>C Single submitter peroxisome biogenesis disorder
  • c.1234-4A>G Single submitter peroxisome biogenesis disorder
  • c.1234-8T>C Single submitter peroxisome biogenesis disorder
  • c.1234-9C>G Single submitter peroxisome biogenesis disorder
  • c.1367+10del Single submitter peroxisome biogenesis disorder
  • c.1367+12_1367+25del Single submitter peroxisome biogenesis disorder
  • c.1367+12C>T Single submitter peroxisome biogenesis disorder
  • c.1367+13A>C Single submitter peroxisome biogenesis disorder
  • c.1367+15C>T Single submitter peroxisome biogenesis disorder
  • c.1367+17C>G Single submitter peroxisome biogenesis disorder
  • c.1367+17C>T Single submitter peroxisome biogenesis disorder
  • c.1367+18C>A Single submitter peroxisome biogenesis disorder
  • c.1367+19C>T Single submitter peroxisome biogenesis disorder
  • c.1367+9G>T Single submitter peroxisome biogenesis disorder
  • c.1368-10C>A Single submitter peroxisome biogenesis disorder
  • c.1368-12C>G Single submitter peroxisome biogenesis disorder
  • c.1368-19G>A Single submitter peroxisome biogenesis disorder
  • c.1368-20T>C Single submitter peroxisome biogenesis disorder
  • c.1479+10_1479+11insA Single submitter peroxisome biogenesis disorder
  • c.1479+11_1479+12del Single submitter peroxisome biogenesis disorder
  • c.1479+12T>C Single submitter peroxisome biogenesis disorder
  • c.1479+13G>C Single submitter peroxisome biogenesis disorder
  • c.1479+19T>C Single submitter peroxisome biogenesis disorder
  • c.1479+20A>G Single submitter peroxisome biogenesis disorder
  • c.1479+7G>T Single submitter peroxisome biogenesis disorder
  • c.1479+9C>A Single submitter peroxisome biogenesis disorder
  • c.1480-10C>T Single submitter peroxisome biogenesis disorder
  • c.1480-11C>A Single submitter peroxisome biogenesis disorder
  • c.1480-17T>C Single submitter peroxisome biogenesis disorder
  • c.1480-4C>G Single submitter peroxisome biogenesis disorder
  • c.1480-4C>T Single submitter peroxisome biogenesis disorder
  • c.1480-6C>T Single submitter peroxisome biogenesis disorder
  • c.1480-7T>C Single submitter peroxisome biogenesis disorder
  • c.1480-8C>T Single submitter peroxisome biogenesis disorder
  • c.1480-9C>G Single submitter peroxisome biogenesis disorder
  • c.1480-9C>T Single submitter peroxisome biogenesis disorder
  • c.1688+11A>T Single submitter peroxisome biogenesis disorder
  • c.1688+20C>T Single submitter peroxisome biogenesis disorder
  • c.1688+8T>C Single submitter peroxisome biogenesis disorder
  • c.1689-10C>G Single submitter peroxisome biogenesis disorder
  • c.1689-12C>G Single submitter peroxisome biogenesis disorder
  • c.1689-12C>T Single submitter peroxisome biogenesis disorder
  • c.1689-16A>G Single submitter peroxisome biogenesis disorder
  • c.1689-17C>G Single submitter peroxisome biogenesis disorder
  • c.1689-18C>T Single submitter peroxisome biogenesis disorder
  • c.1689-20G>A Single submitter peroxisome biogenesis disorder
  • c.1689-275A>G Single submitter
  • c.1689-8G>T Single submitter peroxisome biogenesis disorder
  • c.1884+10A>G Single submitter peroxisome biogenesis disorder
  • c.1884+11A>G Single submitter peroxisome biogenesis disorder
  • c.1884+14G>A Single submitter peroxisome biogenesis disorder
  • c.1884+15A>G Single submitter peroxisome biogenesis disorder
  • c.1884+18G>A Single submitter peroxisome biogenesis disorder
  • c.1884+18G>T Single submitter peroxisome biogenesis disorder
  • c.1884+19T>C Single submitter
  • c.1884+20A>T Single submitter peroxisome biogenesis disorder
  • c.1884+8T>G Single submitter peroxisome biogenesis disorder
  • c.1885-12G>A Single submitter peroxisome biogenesis disorder
  • c.1885-177G>A Single submitter
  • c.1885-17T>C Single submitter peroxisome biogenesis disorder
  • c.1885-192C>T Single submitter
  • c.1885-19C>A Single submitter peroxisome biogenesis disorder
  • c.1885-20C>T Single submitter peroxisome biogenesis disorder
  • c.1885-4del Single submitter peroxisome biogenesis disorder
  • c.1885-5C>T Single submitter peroxisome biogenesis disorder
  • c.1885-6C>T Single submitter peroxisome biogenesis disorder
  • c.1885-8T>C Single submitter peroxisome biogenesis disorder
  • c.1961+11G>T Single submitter peroxisome biogenesis disorder
  • c.1961+15G>A Single submitter peroxisome biogenesis disorder
  • c.1961+16C>A Single submitter peroxisome biogenesis disorder
  • c.1961+16C>T Single submitter peroxisome biogenesis disorder
  • c.1961+18C>A Single submitter peroxisome biogenesis disorder
  • c.1961+18C>G Single submitter peroxisome biogenesis disorder
  • c.1961+20G>T Single submitter peroxisome biogenesis disorder
  • c.1962-10C>T Single submitter peroxisome biogenesis disorder
  • c.1962-12del Single submitter peroxisome biogenesis disorder
  • c.1962-16G>A Single submitter peroxisome biogenesis disorder
  • c.1962-17T>C Single submitter peroxisome biogenesis disorder
  • c.1962-20C>T Single submitter peroxisome biogenesis disorder
  • c.1962-4G>T Single submitter peroxisome biogenesis disorder
  • c.1962-5T>G Single submitter peroxisome biogenesis disorder
  • c.1962-6_1962-5del Single submitter peroxisome biogenesis disorder
  • c.1962-7T>C Single submitter peroxisome biogenesis disorder
  • c.1962-8C>T Single submitter peroxisome biogenesis disorder
  • c.2094+11del Single submitter peroxisome biogenesis disorder
  • c.2094+16T>C Single submitter peroxisome biogenesis disorder
  • c.2094+19G>A Single submitter peroxisome biogenesis disorder
  • c.2094+8C>A Single submitter peroxisome biogenesis disorder
  • c.2094+9del Single submitter peroxisome biogenesis disorder
  • c.2095-12T>C Single submitter peroxisome biogenesis disorder
  • c.2095-12T>G Single submitter peroxisome biogenesis disorder
  • c.2095-13T>C Single submitter peroxisome biogenesis disorder
  • c.2095-15C>T Single submitter peroxisome biogenesis disorder
  • c.2095-16A>G Single submitter peroxisome biogenesis disorder
  • c.2095-17C>T Single submitter peroxisome biogenesis disorder
  • c.2095-18G>A Single submitter peroxisome biogenesis disorder
  • c.2095-4C>T Single submitter peroxisome biogenesis disorder
  • c.2095-9A>G Single submitter peroxisome biogenesis disorder
  • c.2300+10G>A Single submitter peroxisome biogenesis disorder
  • c.2300+11G>A Single submitter peroxisome biogenesis disorder
  • c.2300+15T>C Single submitter peroxisome biogenesis disorder
  • c.2300+16G>A Single submitter peroxisome biogenesis disorder
  • c.2300+30G>C Single submitter
  • c.2300+8G>A Single submitter peroxisome biogenesis disorder
  • c.2300+9G>A Single submitter peroxisome biogenesis disorder
  • c.2301-11C>T Single submitter peroxisome biogenesis disorder
  • c.2301-15C>A Single submitter peroxisome biogenesis disorder
  • c.2301-15C>T Single submitter peroxisome biogenesis disorder
  • c.2301-16A>C Single submitter peroxisome biogenesis disorder
  • c.2301-20_2301-18del Single submitter peroxisome biogenesis disorder
  • c.2301-29C>T Single submitter
  • c.2301-32C>T Single submitter
  • c.2301-5C>T Single submitter peroxisome biogenesis disorder
  • c.2301-7C>T Single submitter peroxisome biogenesis disorder
  • c.2301-8T>C Single submitter peroxisome biogenesis disorder
  • c.2301-9C>A Single submitter peroxisome biogenesis disorder
  • c.2301-9C>G Single submitter peroxisome biogenesis disorder
  • c.2301-9C>T Single submitter peroxisome biogenesis disorder
  • c.2362+10C>G Single submitter peroxisome biogenesis disorder
  • c.2362+10C>T Single submitter peroxisome biogenesis disorder
  • c.2362+13G>A Single submitter peroxisome biogenesis disorder
  • c.2362+15A>G Single submitter peroxisome biogenesis disorder
  • c.2362+17G>A Single submitter peroxisome biogenesis disorder
  • c.2362+18G>A Single submitter peroxisome biogenesis disorder
  • c.2362+19G>T Single submitter peroxisome biogenesis disorder
  • c.2362+20C>A Single submitter peroxisome biogenesis disorder
  • c.2362+7G>A Single submitter peroxisome biogenesis disorder
  • c.2362+9_2362+10delinsAA Single submitter peroxisome biogenesis disorder
  • c.2362+9G>C Single submitter peroxisome biogenesis disorder
  • c.2363-10C>G Single submitter peroxisome biogenesis disorder
  • c.2363-10C>T Single submitter peroxisome biogenesis disorder
  • c.2363-10dup Single submitter peroxisome biogenesis disorder
  • c.2363-11T>C Single submitter peroxisome biogenesis disorder
  • c.2363-14CT[4] Single submitter peroxisome biogenesis disorder
  • c.2363-16C>A Single submitter peroxisome biogenesis disorder
  • c.2363-16C>T Single submitter peroxisome biogenesis disorder
  • c.2363-17C>T Single submitter peroxisome biogenesis disorder
  • c.2363-4T>C Single submitter peroxisome biogenesis disorder
  • c.2363-5_2363-4del Single submitter peroxisome biogenesis disorder
  • c.2363-6C>G Single submitter peroxisome biogenesis disorder
  • c.2363-8C>G Single submitter peroxisome biogenesis disorder
  • c.2363-8C>T Single submitter peroxisome biogenesis disorder
  • c.2471+11G>A Single submitter peroxisome biogenesis disorder
  • c.2471+13G>T Single submitter peroxisome biogenesis disorder
  • c.2471+15G>A Single submitter peroxisome biogenesis disorder
  • c.2471+18A>G Single submitter peroxisome biogenesis disorder
  • c.2471+20T>A Single submitter peroxisome biogenesis disorder
  • c.2472-10T>A Single submitter peroxisome biogenesis disorder
  • c.2472-10T>G Single submitter peroxisome biogenesis disorder
  • c.2472-11C>T Single submitter peroxisome biogenesis disorder
  • c.2472-13C>T Single submitter peroxisome biogenesis disorder
  • c.2472-14dup Single submitter peroxisome biogenesis disorder
  • c.2472-16G>A Single submitter peroxisome biogenesis disorder
  • c.2472-16G>T Single submitter peroxisome biogenesis disorder
  • c.2472-17_2472-12dup Single submitter peroxisome biogenesis disorder
  • c.2472-6del Single submitter peroxisome biogenesis disorder
  • c.2472-9TC[2] Single submitter peroxisome biogenesis disorder
  • c.2588+13T>C Single submitter peroxisome biogenesis disorder
  • c.2588+14dup Single submitter peroxisome biogenesis disorder
  • c.2588+15C>G Single submitter peroxisome biogenesis disorder
  • c.2588+15C>T Single submitter peroxisome biogenesis disorder
  • c.2588+18C>T Single submitter peroxisome biogenesis disorder
  • c.2588+19T>A Single submitter peroxisome biogenesis disorder
  • c.2588+20C>T Single submitter peroxisome biogenesis disorder
  • c.2588+26del Single submitter
  • c.2588+8C>G Single submitter peroxisome biogenesis disorder
  • c.2588+9C>G Single submitter peroxisome biogenesis disorder
  • c.2589-10C>T Single submitter peroxisome biogenesis disorder
  • c.2589-12A>G Single submitter peroxisome biogenesis disorder
  • c.2589-19C>A Single submitter peroxisome biogenesis disorder
  • c.2589-20A>G Single submitter peroxisome biogenesis disorder
  • c.2589-4A>T Single submitter peroxisome biogenesis disorder
  • c.2666+10G>T Single submitter peroxisome biogenesis disorder
  • c.2666+13A>G Single submitter peroxisome biogenesis disorder
  • c.2666+16G>C Single submitter peroxisome biogenesis disorder
  • c.2666+19A>C Single submitter peroxisome biogenesis disorder
  • c.2666+73G>A Single submitter
  • c.2666+8_2666+9del Single submitter peroxisome biogenesis disorder
  • c.2666+8C>G Single submitter peroxisome biogenesis disorder
  • c.2666+8C>T Single submitter peroxisome biogenesis disorder
  • c.2666+9T>C Single submitter peroxisome biogenesis disorder

Uncertain significance 648

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