Sugi Variant

Sugi Variant/PEX1

PEX1 — 1974 ClinVar variants

All ClinVar germline PEX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 603 flagged for review →

127 Pathogenic · 90 Pathogenic/Likely pathogenic · 220 Likely pathogenic · 91 Conflicting · 51 Benign · 18 Benign/Likely benign · 741 Likely benign · 636 Uncertain significance

Full PEX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 603

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 36

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

Predictors lean, ClinVar uncertain 345

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 345

Predictors split 221

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 221

All PEX1 variants

Pathogenic 127

Pathogenic/Likely pathogenic 90

  • c.130-1G>T Multiple submitters Heimler syndrome 1
  • c.130-2A>G Multiple submitters peroxisome biogenesis disorder
  • c.130-2A>T Multiple submitters peroxisome biogenesis disorder
  • c.1670+1G>A Multiple submitters Zellweger spectrum disorders
  • c.1900+1G>A Multiple submitters Zellweger spectrum disorders
  • c.1900+2T>C Multiple submitters Zellweger spectrum disorders
  • c.2071+1G>T Multiple submitters Zellweger spectrum disorders
  • c.273+1G>A Multiple submitters Zellweger spectrum disorders
  • c.2926+1G>A Multiple submitters Zellweger spectrum disorders
  • c.3207+1G>C Multiple submitters Heimler syndrome 1
  • c.3208-1G>A Multiple submitters Heimler syndrome 1
  • c.357+1G>T Multiple submitters Heimler syndrome 1
  • c.358-1G>T Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
  • c.358-2A>C Multiple submitters peroxisome biogenesis disorder 1B
  • p.Ala15fs Multiple submitters Heimler syndrome 1
  • p.Ala668fs Multiple submitters Heimler syndrome 1
  • p.Ala921fs Multiple submitters Zellweger spectrum disorders
  • p.Arg1013Cys Multiple submitters Zellweger spectrum disorders ⚠
  • p.Arg1013His Multiple submitters Zellweger spectrum disorders
  • p.Arg1208fs Multiple submitters Zellweger spectrum disorders
  • p.Arg183Ter Multiple submitters peroxisome biogenesis disorder
  • p.Arg581Pro Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
  • p.Arg795Ter Multiple submitters Zellweger spectrum disorders
  • p.Arg896Ter Multiple submitters Heimler syndrome 1
  • p.Arg949Gln Multiple submitters Zellweger spectrum disorders
  • p.Arg949Trp Multiple submitters Heimler syndrome 1
  • p.Arg998Ter Multiple submitters Inborn genetic diseases
  • p.Asn1088fs Multiple submitters Zellweger spectrum disorders
  • p.Asp378fs Multiple submitters Zellweger spectrum disorders
  • p.Asp628_Cys629insTer Multiple submitters Zellweger spectrum disorders
  • p.Cys1102fs Multiple submitters Zellweger spectrum disorders
  • p.Gln1169Ter Multiple submitters Heimler syndrome 1
  • p.Gln1192Ter Multiple submitters Heimler syndrome 1
  • p.Gln1231Ter Multiple submitters Heimler syndrome 1
  • p.Gln277Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln293Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln319Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln367fs Multiple submitters peroxisome biogenesis disorder due to PEX1 defect
  • p.Gln448Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln471Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln69Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln713Ter Multiple submitters Heimler syndrome 1
  • p.Gln716Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln726Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln744Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln770Ter Multiple submitters Heimler syndrome 1
  • p.Gln930Ter Multiple submitters Zellweger spectrum disorders
  • p.Glu1137Ter Multiple submitters Zellweger spectrum disorders
  • p.Glu376fs Multiple submitters Heimler syndrome 1
  • p.Glu459Ter Multiple submitters peroxisome biogenesis disorder 1B
  • p.Glu510Ter Multiple submitters Heimler syndrome 1
  • p.Glu897_Ser898insTer Multiple submitters Zellweger spectrum disorders
  • p.Gly1061fs Multiple submitters Zellweger spectrum disorders
  • p.Gly593Arg Multiple submitters Heimler syndrome 1 ⚠
  • p.Gly90fs Multiple submitters Heimler syndrome 1
  • p.His951fs Multiple submitters Zellweger spectrum disorders
  • p.Ile370fs Multiple submitters Heimler syndrome 1
  • p.Ile528fs Multiple submitters peroxisome biogenesis disorder
  • p.Ile989Thr Multiple submitters Inborn genetic diseases
  • p.Leu1024fs Multiple submitters Heimler syndrome 1
  • p.Leu1032fs Multiple submitters Heimler syndrome 1
  • p.Leu1051fs Multiple submitters Zellweger spectrum disorders
  • p.Leu1177fs Multiple submitters Heimler syndrome 1
  • p.Leu338fs Multiple submitters Zellweger spectrum disorders
  • p.Leu391fs Multiple submitters Heimler syndrome 1
  • p.Leu501fs Multiple submitters Zellweger spectrum disorders
  • p.Leu807Ter Multiple submitters Zellweger spectrum disorders
  • p.Leu974fs Multiple submitters PEX1-related disorder
  • p.Lys274fs Multiple submitters Zellweger spectrum disorders
  • p.Lys359fs Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
  • p.Phe1086fs Multiple submitters Zellweger spectrum disorders
  • p.Phe273fs Multiple submitters Zellweger spectrum disorders
  • p.Pro680fs Multiple submitters Zellweger spectrum disorders
  • p.Pro934fs Multiple submitters Heimler syndrome 1
  • p.Ser1152fs Multiple submitters Zellweger spectrum disorders
  • p.Ser220fs Multiple submitters Zellweger spectrum disorders
  • p.Ser241fs Multiple submitters Heimler syndrome 1
  • p.Ser278fs Multiple submitters Zellweger spectrum disorders
  • p.Ser304fs Multiple submitters Zellweger spectrum disorders
  • p.Thr1039fs Multiple submitters Heimler syndrome 1
  • p.Thr181fs Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
  • p.Thr475fs Multiple submitters Zellweger spectrum disorders
  • p.Thr954fs Multiple submitters Heimler syndrome 1
  • p.Trp265Ter Multiple submitters Zellweger spectrum disorders
  • p.Trp317Ter Multiple submitters peroxisome biogenesis disorder 1B
  • p.Trp413Ter Multiple submitters Zellweger spectrum disorders
  • p.Trp653_Met654insThrValTrp Multiple submitters Zellweger spectrum disorders
  • p.Val1109_Ser1110insTer Multiple submitters Heimler syndrome 1
  • p.Val19fs Multiple submitters Heimler syndrome 1
  • p.Val465fs Multiple submitters Zellweger spectrum disorders

Likely pathogenic 220

  • c.1587+1G>A Multiple submitters Heimler syndrome 1
  • c.1901-2A>G Multiple submitters Zellweger spectrum disorders
  • c.2072-42_2085del Multiple submitters Heimler syndrome 1
  • c.2719-1G>A Multiple submitters Zellweger spectrum disorders
  • c.2719-2A>G Multiple submitters Zellweger spectrum disorders
  • c.273+2T>G Multiple submitters Zellweger spectrum disorders
  • c.2784-1G>C Multiple submitters Heimler syndrome 1
  • c.2927-2A>G Multiple submitters Heimler syndrome 1
  • c.3031-1G>A Multiple submitters Zellweger spectrum disorders
  • c.3637-1G>A Multiple submitters Zellweger spectrum disorders
  • c.3637-3_3637-1del Multiple submitters Zellweger spectrum disorders
  • c.472+1G>A Multiple submitters peroxisome biogenesis disorder 1B
  • p.Arg1193fs Multiple submitters Heimler syndrome 1
  • p.Cys733Ter Multiple submitters peroxisome biogenesis disorder 1B
  • p.Gln1173Ter Multiple submitters Heimler syndrome 1
  • p.Gln367Ter Multiple submitters Zellweger spectrum disorders
  • p.Gln815Ter Multiple submitters Heimler syndrome 1
  • p.Gly1163fs Multiple submitters Heimler syndrome 1
  • p.Leu1104Ter Multiple submitters Zellweger spectrum disorders
  • p.Leu447Ter Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
  • p.Leu551Ter Multiple submitters Heimler syndrome 1
  • p.Leu664Pro Multiple submitters peroxisome biogenesis disorder 1B
  • p.Ser102fs Multiple submitters Heimler syndrome 1
  • p.Tyr978fs Multiple submitters peroxisome biogenesis disorder
  • c.1239+2T>A Single submitter Heimler syndrome 1
  • c.1240-2A>G Single submitter Heimler syndrome 1
  • c.129+1G>A Single submitter peroxisome biogenesis disorder
  • c.130-1G>C Single submitter PEX1-related disorder
  • c.1359+1G>C Single submitter Zellweger spectrum disorders
  • c.1587+1_1587+4del Single submitter Zellweger spectrum disorders
  • c.1587+1G>C Single submitter Heimler syndrome 1
  • c.1587+1G>T Single submitter Zellweger spectrum disorders
  • c.1793_1803+1del Single submitter Zellweger spectrum disorders
  • c.1803+2T>C Single submitter Zellweger spectrum disorders
  • c.1901-10_1932del Single submitter Zellweger spectrum disorders
  • c.1901-1G>T Single submitter Zellweger spectrum disorders
  • c.2071+2T>C Single submitter Zellweger spectrum disorders
  • c.2071+2T>G Single submitter Heimler syndrome 1
  • c.2072-1G>A Single submitter Zellweger spectrum disorders
  • c.2072-1G>C Single submitter Heimler syndrome 1
  • c.2227-1G>C Single submitter Zellweger spectrum disorders
  • c.2417-1_2417del Single submitter Zellweger spectrum disorders
  • c.2417-1G>T Single submitter Zellweger spectrum disorders
  • c.2417-2A>G Single submitter Heimler syndrome 1
  • c.2583+1G>T Single submitter Zellweger spectrum disorders
  • c.2718+1G>A Single submitter Zellweger spectrum disorders
  • c.274-2A>T Single submitter Heimler syndrome 1
  • c.2783+2T>C Single submitter Zellweger spectrum disorders
  • c.3030+1del Single submitter Heimler syndrome 1
  • c.3438+1G>A Single submitter Zellweger spectrum disorders
  • c.3439-1G>T Single submitter Heimler syndrome 1
  • c.3439-2A>G Single submitter Zellweger spectrum disorders
  • c.357+1G>C Single submitter Zellweger spectrum disorders
  • c.357+202_1170del Single submitter peroxisome biogenesis disorder 1A (Zellweger)
  • p.Ala192fs Single submitter peroxisome biogenesis disorder 1A (Zellweger)
  • p.Ala311fs Single submitter Heimler syndrome 1
  • p.Ala611fs Single submitter Zellweger spectrum disorders
  • p.Ala631fs Single submitter peroxisome biogenesis disorder 1A (Zellweger)
  • p.Ala891fs Single submitter Zellweger spectrum disorders
  • p.Ala946fs Single submitter Heimler syndrome 1
  • p.Arg1013Gly Single submitter Zellweger spectrum disorders
  • p.Arg1013Pro Single submitter Zellweger spectrum disorders
  • p.Arg135fs Single submitter Zellweger spectrum disorders
  • p.Arg577fs Single submitter Heimler syndrome 1
  • p.Arg626fs Single submitter Zellweger spectrum disorders
  • p.Arg626Ter Single submitter peroxisome biogenesis disorder
  • p.Arg636fs Single submitter Heimler syndrome 1
  • p.Arg745Ter Single submitter peroxisome biogenesis disorder
  • p.Arg798Gly Single submitter Heimler syndrome 1 ⚠
  • p.Asn221fs Single submitter Heimler syndrome 1
  • p.Asn299fs Single submitter Zellweger spectrum disorders
  • p.Asn452fs Single submitter peroxisome biogenesis disorder
  • p.Asn693fs Single submitter Heimler syndrome 1
  • p.Asn77Lys Single submitter Zellweger spectrum disorders
  • p.Asn830fs Single submitter Heimler syndrome 1
  • p.Asp114fs Single submitter Zellweger spectrum disorders
  • p.Asp1194fs Single submitter Heimler syndrome 1
  • p.Asp172fs Single submitter Heimler syndrome 1
  • p.Asp512fs Single submitter peroxisome biogenesis disorder 1A (Zellweger)
  • p.Asp924fs Single submitter peroxisome biogenesis disorder
  • p.Cys613fs Single submitter Zellweger spectrum disorders
  • p.Gln1010Ter Single submitter Zellweger spectrum disorders
  • p.Gln1033fs Single submitter Zellweger spectrum disorders
  • p.Gln1106Ter Single submitter Zellweger spectrum disorders
  • p.Gln1149fs Single submitter Zellweger spectrum disorders
  • p.Gln1149Ter Single submitter peroxisome biogenesis disorder
  • p.Gln1169fs Single submitter Zellweger spectrum disorders
  • p.Gln1210Ter Single submitter Zellweger spectrum disorders
  • p.Gln1219fs Single submitter Heimler syndrome 1
  • p.Gln156Ter Single submitter Zellweger spectrum disorders
  • p.Gln178fs Single submitter peroxisome biogenesis disorder
  • p.Gln178Ter Single submitter Zellweger spectrum disorders
  • p.Gln214Ter Single submitter Zellweger spectrum disorders
  • p.Gln219fs Single submitter Heimler syndrome 1
  • p.Gln529Ter Single submitter Heimler syndrome 1
  • p.Gln582_Gly599del Single submitter peroxisome biogenesis disorder 1A (Zellweger)
  • p.Gln715fs Single submitter peroxisome biogenesis disorder
  • p.Gln716fs Single submitter Heimler syndrome 1
  • p.Gln738fs Single submitter peroxisome biogenesis disorder
  • p.Gln963Ter Single submitter peroxisome biogenesis disorder
  • p.Glu1015fs Single submitter peroxisome biogenesis disorder
  • p.Glu1057Ter Single submitter Heimler syndrome 1
  • p.Glu117Ter Single submitter Heimler syndrome 1
  • p.Glu1191fs Single submitter peroxisome biogenesis disorder 1A (Zellweger)
  • p.Glu127fs Single submitter Heimler syndrome 1
  • p.Glu269fs Single submitter peroxisome biogenesis disorder
  • p.Glu379fs Single submitter Zellweger spectrum disorders
  • p.Glu392fs Single submitter
  • p.Glu392Ter Single submitter peroxisome biogenesis disorder
  • p.Glu484Ter Single submitter Heimler syndrome 1
  • p.Glu498Ter Single submitter peroxisome biogenesis disorder
  • p.Glu510fs Single submitter Heimler syndrome 1
  • p.Glu538fs Single submitter peroxisome biogenesis disorder
  • p.Glu650_Leu660delinsGlyLeuThrTer Single submitter Heimler syndrome 1
  • p.Glu941fs Single submitter peroxisome biogenesis disorder
  • p.Gly1100Ter Single submitter peroxisome biogenesis disorder
  • p.Gly1103fs Single submitter peroxisome biogenesis disorder
  • p.Gly1141fs Single submitter peroxisome biogenesis disorder
  • p.Gly593Ter Single submitter Heimler syndrome 1
  • p.Gly602Ter Single submitter Heimler syndrome 1
  • p.Gly843Ser Single submitter Zellweger spectrum disorders ⚠
  • p.Gly85Ter Single submitter peroxisome biogenesis disorder
  • p.Gly884fs Single submitter Heimler syndrome 1
  • p.Gly970Ala Single submitter Zellweger spectrum disorders
  • p.His1240fs Single submitter Heimler syndrome 1
  • p.His719fs Single submitter Heimler syndrome 1
  • p.His951fs Single submitter peroxisome biogenesis disorder
  • p.Ile441fs Single submitter peroxisome biogenesis disorder
  • p.Ile457fs Single submitter Heimler syndrome 1
  • p.Ile612fs Single submitter Zellweger spectrum disorders
  • p.Ile737fs Single submitter Heimler syndrome 1
  • p.Ile761fs Single submitter peroxisome biogenesis disorder
  • p.Leu1079fs Single submitter Heimler syndrome 1
  • p.Leu1104fs Single submitter
  • p.Leu1234Ter Single submitter Zellweger spectrum disorders
  • p.Leu353Ter Single submitter Zellweger spectrum disorders
  • p.Leu447fs Single submitter Heimler syndrome 1
  • p.Leu453fs Single submitter Heimler syndrome 1
  • p.Leu490fs Single submitter peroxisome biogenesis disorder
  • p.Leu518fs Single submitter peroxisome biogenesis disorder
  • p.Leu590Arg Single submitter Heimler syndrome 1 ⚠
  • p.Leu590fs Single submitter peroxisome biogenesis disorder
  • p.Leu596fs Single submitter Heimler syndrome 1
  • p.Leu608fs Single submitter peroxisome biogenesis disorder
  • p.Leu632fs Single submitter peroxisome biogenesis disorder
  • p.Leu721_Leu722delinsTer Single submitter Heimler syndrome 1
  • p.Leu84fs Single submitter peroxisome biogenesis disorder
  • p.Leu865fs Single submitter Heimler syndrome 1
  • p.Leu965Pro Single submitter
  • p.Lys1001fs Single submitter peroxisome biogenesis disorder
  • p.Lys260fs Single submitter Zellweger spectrum disorders
  • p.Lys291fs Single submitter Zellweger spectrum disorders
  • p.Lys455Ter Single submitter peroxisome biogenesis disorder
  • p.Lys601Ter Single submitter peroxisome biogenesis disorder
  • p.Lys614Ter Single submitter peroxisome biogenesis disorder
  • p.Lys697fs Single submitter Heimler syndrome 1
  • p.Lys887Ter Single submitter Zellweger spectrum disorders
  • p.Lys906Ter Single submitter Zellweger spectrum disorders
  • p.Met1113fs Single submitter Heimler syndrome 1
  • p.Met1Val Single submitter Zellweger spectrum disorders
  • p.Met210fs Single submitter peroxisome biogenesis disorder
  • p.Met248fs Single submitter Heimler syndrome 1
  • p.Met276fs Single submitter Heimler syndrome 1
  • p.Met584_Ser585delinsThrTer Single submitter Zellweger spectrum disorders
  • p.Met654delinsIleSerValLys Single submitter peroxisome biogenesis disorder 1A (Zellweger)
  • p.Phe189fs Single submitter Heimler syndrome 1
  • p.Phe253fs Single submitter peroxisome biogenesis disorder
  • p.Pro162Thr Single submitter peroxisome biogenesis disorder 1A (Zellweger) ⚠
  • p.Pro549fs Single submitter Heimler syndrome 1
  • p.Ser1091fs Single submitter peroxisome biogenesis disorder
  • p.Ser1181fs Single submitter Heimler syndrome 1
  • p.Ser1230Ter Single submitter Zellweger spectrum disorders
  • p.Ser1232Ter Single submitter Heimler syndrome 1
  • p.Ser220Ter Single submitter peroxisome biogenesis disorder
  • p.Ser239Ter Single submitter peroxisome biogenesis disorder
  • p.Ser458fs Single submitter peroxisome biogenesis disorder
  • p.Ser566fs Single submitter peroxisome biogenesis disorder
  • p.Ser59fs Single submitter peroxisome biogenesis disorder
  • p.Ser606fs Single submitter peroxisome biogenesis disorder
  • p.Ser606Ter Single submitter peroxisome biogenesis disorder
  • p.Ser898fs Single submitter Heimler syndrome 1
  • p.Thr171delinsIleTer Single submitter peroxisome biogenesis disorder
  • p.Thr171fs Single submitter peroxisome biogenesis disorder
  • p.Thr348fs Single submitter Heimler syndrome 1
  • p.Thr785fs Single submitter peroxisome biogenesis disorder
  • p.Trp116Ter Single submitter Zellweger spectrum disorders
  • p.Trp246Ter Single submitter Heimler syndrome 1
  • p.Trp469Ter Single submitter Zellweger spectrum disorders
  • p.Trp60Ter Single submitter peroxisome biogenesis disorder 1A (Zellweger)
  • p.Trp653Ter Single submitter Zellweger spectrum disorders
  • p.Tyr166fs Single submitter peroxisome biogenesis disorder
  • p.Val1003fs Single submitter Zellweger spectrum disorders
  • p.Val101fs Single submitter Zellweger spectrum disorders
  • p.Val659Gly Single submitter
  • p.Val808_Leu809insTer Single submitter
  • c.1239+1G>A No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • c.1587+2T>C No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • c.3207+2C>A No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • c.357+1G>A No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • c.358-2A>G No assertion criteria peroxisome biogenesis disorder 1B
  • c.473-1G>C No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • p.Ala1153fs No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • p.Asn299delinsIleTer No assertion criteria peroxisome biogenesis disorder 1B
  • p.Asp1194fs No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • p.Gln1219Ter No assertion criteria PEX1-related disorder
  • p.Gln385_Val386insTer No assertion criteria peroxisome biogenesis disorder 1B
  • p.Gln472Ter No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • p.Gln641Ter No assertion criteria peroxisome biogenesis disorder 1B
  • p.Gln873Ter No assertion criteria peroxisome biogenesis disorder 1B
  • p.Glu1183Ter No assertion criteria peroxisome biogenesis disorder 1B
  • p.Glu909fs No assertion criteria
  • p.Gly589Ter No assertion criteria peroxisome biogenesis disorder 1B
  • p.Leu1081fs No assertion criteria peroxisome biogenesis disorder 1B
  • p.Leu245fs No assertion criteria peroxisome biogenesis disorder 1B
  • p.Lys642fs No assertion criteria peroxisome biogenesis disorder 1B
  • p.Pro908fs No assertion criteria peroxisome biogenesis disorder 1B
  • p.Ser1110_Leu1111insTer No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • p.Ser1209fs No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • p.Ser254fs No assertion criteria peroxisome biogenesis disorder 1A (Zellweger)
  • p.Val658fs No assertion criteria peroxisome biogenesis disorder 1B

Conflicting classifications of pathogenicity 91

Benign 51

Benign/Likely benign 18

  • c.1671-7T>C Multiple submitters Zellweger spectrum disorders
  • c.2584-10del Multiple submitters peroxisome biogenesis disorder
  • c.2584-10T>C Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
  • c.2584-11_2584-10del Multiple submitters Zellweger spectrum disorders
  • c.2584-20T>A Multiple submitters Zellweger spectrum disorders
  • c.2584-21_2584-20dup Multiple submitters Zellweger spectrum disorders
  • c.2718+3A>G Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)
  • c.3439-14_3439-13del Multiple submitters Zellweger spectrum disorders
  • c.-137T>C Multiple submitters Zellweger spectrum disorders
  • p.Ala381Asp Multiple submitters Zellweger spectrum disorders
  • p.Asn271Ser Multiple submitters Zellweger spectrum disorders
  • p.Gln967= Multiple submitters Zellweger spectrum disorders
  • p.Gly599= Multiple submitters Zellweger spectrum disorders
  • p.His1240= Multiple submitters Zellweger spectrum disorders
  • p.Ile696Met Multiple submitters Zellweger spectrum disorders
  • p.Lys359= Multiple submitters Zellweger spectrum disorders
  • p.Ser362Leu Multiple submitters Zellweger spectrum disorders
  • p.Trp507Cys Multiple submitters peroxisome biogenesis disorder 1A (Zellweger)

Likely benign 741

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

Uncertain significance 636

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