A total 522 pathogenic variants reported in gene peroxisomal biogenesis factor 1 (PEX1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) SNV
Germline
Chr7:92501562 Pathogenic Peroxisome biogenesis disorder
Leber congenital amaurosis
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisomal disorder
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Retinal dystrophy
Inborn genetic diseases
Zellweger spectrum disorders
not specified
PEX1-related disorder
Peroxisome biogenesis disorder due to PEX1 defect
Criteria Provided
Multiple Submitters
No Conflicts
CA220977 rs_61750420

42 SubmittersRCV000007946RCV000022416RCV000032927RCV000078922RCV000345695RCV000661947RCV000763596RCV000791271RCV001004322RCV001074120RCV001266794RCV001376560RCV001731280RCV003398462RCV004786245

NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) SNV
Germline
Chr7:92504812 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA254194 rs_121434455

7 SubmittersRCV000007949RCV001248383RCV003473054RCV003480024RCV000763597

NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) SNV
Germline
Chr7:92502076 Pathogenic Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA220975 rs_398123409

4 SubmittersRCV000078919RCV000672527RCV001854392RCV003474678

NM_000466.3(PEX1):c.2442C>T (p.Phe814=) SNV
Germline
Chr7:92501648 Conflicting classifications of pathogenicity not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Condition: not provided
Criteria Provided
Conflicting Classifications
CA146658 rs_145430946

8 SubmittersRCV000078921RCV000356824RCV001507118RCV000859827

NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) SNV
Germline
Chr7:92494621 Conflicting classifications of pathogenicity not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Microcephaly
PEX1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA220978 rs_144825021

7 SubmittersRCV000078924RCV000368382RCV001277303RCV001252811RCV003935024RCV004791262

NM_000466.3(PEX1):c.330C>G (p.Pro110=) SNV
Germline
Chr7:92519022 Conflicting classifications of pathogenicity not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA146663 rs_71560821

8 SubmittersRCV000078927RCV000358779RCV001200182RCV001507135

NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) SNV
Germline
Chr7:92517841 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA220984 rs_372485912

5 SubmittersRCV000078930RCV001246411

NM_000466.3(PEX1):c.627G>A (p.Met209Ile) SNV
Germline
Chr7:92517888 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA234519 rs_200752969

13 SubmittersRCV000153672RCV000298239RCV001240934RCV001328780RCV001824124RCV002516087

NM_000466.3(PEX1):c.2926+2T>C SNV
Germline
Chr7:92494485 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder type 1A
Zellweger spectrum disorders
Peroxisome biogenesis disorder
Condition: not provided
Heimler syndrome 1
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA274236 rs_267608180

8 SubmittersRCV000169385RCV001250202RCV001215871RCV002307427RCV002291587RCV003474911RCV005031695

NM_000466.3(PEX1):c.2926+1G>A SNV
Germline
Chr7:92494486 Pathogenic/Likely pathogenic Condition: not provided
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Inborn genetic diseases
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA273894 rs_267608179

9 SubmittersRCV000599041RCV002228604RCV001332473RCV003474896RCV002516527RCV004555855RCV001194281RCV001810430

NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) SNV
Germline
Chr7:92501923 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Peroxisome biogenesis disorder
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA274065 rs_61750418

8 SubmittersRCV000169227RCV000657614RCV001004323RCV001220088RCV002265653RCV003474901RCV005031692

NM_000466.3(PEX1):c.3G>A (p.Met1Ile) SNV
Germline
Chr7:92528433 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Single Submitter
CA274384 rs_786204704

2 SubmittersRCV000169518RCV003593925

NM_000466.3(PEX1):c.2894T>C (p.Leu965Pro) SNV
Germline
Chr7:92494519 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA236284 rs_786205586

1 SubmittersRCV000171408

NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter) SNV
Germline
Chr7:92503091 Pathogenic/Likely pathogenic Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA236455 rs_786205655

2 SubmittersRCV000171529RCV002515240

NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) SNV
Germline
Chr7:92499777 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA240669 rs_141764012

3 SubmittersRCV000175014RCV001079967RCV003937570

NM_000466.3(PEX1):c.130-9T>C SNV
Germline
Chr7:92522254 Conflicting classifications of pathogenicity not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA201545 rs_377337949

5 SubmittersRCV000175612RCV000267284RCV001277317

NM_000466.3(PEX1):c.363G>A (p.Leu121=) SNV
Germline
Chr7:92518250 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA245129 rs_200866361

3 SubmittersRCV000178106RCV001411798RCV003955062

NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) SNV
Germline
Chr7:92517850 Conflicting classifications of pathogenicity Condition: not provided
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA245941 rs_773922257

3 SubmittersRCV000178773RCV000764731RCV002516781

NM_000466.3(PEX1):c.1011G>A (p.Lys337=) SNV
Germline
Chr7:92517504 Conflicting classifications of pathogenicity not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA203013 rs_142018583

4 SubmittersRCV000178774RCV000906584RCV001507201

NM_000466.3(PEX1):c.645C>G (p.Thr215=) SNV
Germline
Chr7:92517870 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA245943 rs_151041559

3 SubmittersRCV000178775RCV001081673

NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) SNV
Germline
Chr7:92503153 Conflicting classifications of pathogenicity Heimler syndrome 1
Retinal dystrophy
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
PEX1-related disorder
not specified
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA279184 rs_863225084

6 SubmittersRCV000201290RCV001075286RCV001810437RCV003417729RCV004701263RCV002517304

NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) SNV
Germline
Chr7:92507055 Pathogenic/Likely pathogenic Heimler syndrome 1
Zellweger spectrum disorders
Retinal dystrophy
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA210119 rs_370483961

6 SubmittersRCV000201302RCV001377625RCV001075087RCV002500626

NM_000466.3(PEX1):c.1239+1G>T SNV
Germline
Chr7:92517275 Pathogenic Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Peroxisome biogenesis disorder
Condition: not provided
PEX1-related disorder
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA210121 rs_756876301

9 SubmittersRCV000201308RCV000633316RCV001004518RCV001376605RCV001526999RCV001795328RCV003422106RCV005031756

NM_000466.3(PEX1):c.3750G>A (p.Trp1250Ter) SNV
Germline
Chr7:92489310 Pathogenic Heimler syndrome 1 No Assertion Criteria Provided
CA279186 rs_863225085

1 SubmittersRCV000201292

NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) SNV
Germline
Chr7:92494357 Pathogenic/Likely pathogenic Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Condition: not provided
Inborn genetic diseases
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA4340947 rs_61750427

7 SubmittersRCV000240787RCV001004317RCV002229187RCV002251446RCV002515571RCV005042454RCV003226251

NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) SNV
Germline
Chr7:92487499 Conflicting classifications of pathogenicity not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340719 rs_139054881

5 SubmittersRCV000239086RCV000886828RCV001507190RCV003939908

NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) SNV
Germline
Chr7:92499808 Pathogenic Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Peroxisome biogenesis disorder
See cases
Heimler syndrome 1
Abnormality of metabolism/homeostasis
Criteria Provided
Multiple Submitters
No Conflicts
CA4341072 rs_61750422

11 SubmittersRCV000254886RCV001004321RCV001063888RCV001376587RCV001260325RCV002252071RCV003475860RCV001814132

NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) SNV
Germline
Chr7:92489847 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340805 rs_182452430

7 SubmittersRCV000283658RCV000764728RCV001275210

NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) SNV
Germline
Chr7:92494571 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340995 rs_374167385

6 SubmittersRCV000304199RCV000311034RCV001240601RCV003930068

NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) SNV
Germline
Chr7:92493054 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Inborn genetic diseases
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Criteria Provided
Conflicting Classifications
CA4340902 rs_754130942

6 SubmittersRCV000350916RCV001277300RCV003165737RCV002480020

NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) SNV
Germline
Chr7:92517878 Conflicting classifications of pathogenicity not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
Inborn genetic diseases
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4341565 rs_141798874

10 SubmittersRCV000306324RCV000889675RCV001355075RCV001420972RCV004955376RCV003977775

NM_000466.3(PEX1):c.468A>G (p.Gln156=) SNV
Germline
Chr7:92518145 Conflicting classifications of pathogenicity not specified
Zellweger spectrum disorders
PEX1-related disorder
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4341604 rs_149729088

6 SubmittersRCV000271066RCV001507194RCV003940002RCV000543039RCV003437049

NM_000466.3(PEX1):c.1360-7C>T SNV
Germline
Chr7:92511710 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4341414 rs_371890000

6 SubmittersRCV000268203RCV001080221RCV001277309RCV001336887RCV004816504

NM_000466.3(PEX1):c.453G>A (p.Thr151=) SNV
Germline
Chr7:92518160 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4341606 rs_368714078

3 SubmittersRCV000379864RCV001087631RCV003920137

NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) SNV
Germline
Chr7:92493129 Conflicting classifications of pathogenicity not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340911 rs_141650598

8 SubmittersRCV000298949RCV000345924RCV000766589RCV001277301RCV003977800

NM_000466.3(PEX1):c.293C>T (p.Ser98Phe) SNV
Germline
Chr7:92519059 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4341643 rs_369100815

3 SubmittersRCV000325375RCV001458350RCV002518035

NM_000466.3(PEX1):c.1360-4G>T SNV
Germline
Chr7:92511707 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Inborn genetic diseases
PEX1-related disorder
Peroxisome biogenesis disorder
Criteria Provided
Conflicting Classifications
CA4341413 rs_199716270

7 SubmittersRCV000271696RCV000351986RCV001450061RCV002521991RCV003957498RCV005355607

NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) SNV
Germline
Chr7:92496746 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341025 rs_371327573

4 SubmittersRCV000301612RCV000764729RCV001855212

NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) SNV
Germline
Chr7:92493116 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
PEX1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4340908 rs_185181696

7 SubmittersRCV000332762RCV001240865RCV002480047RCV004752832RCV004021294

NM_000466.3(PEX1):c.939T>C (p.His313=) SNV
Germline
Chr7:92517576 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
not specified
Criteria Provided
Conflicting Classifications
CA4341515 rs_199647157

5 SubmittersRCV000296594RCV001085224RCV001507170RCV005407028

NM_000466.3(PEX1):c.2926+8T>C SNV
Germline
Chr7:92494479 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
not specified
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340977 rs_369877998

6 SubmittersRCV000333673RCV001086316RCV001450071RCV001700030RCV003930197

NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) SNV
Germline
Chr7:92491460 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340861 rs_781277635

4 SubmittersRCV000342533RCV000729186RCV002519510RCV004752880

NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) SNV
Germline
Chr7:92492995 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340893 rs_776231556

3 SubmittersRCV000396766RCV000729990RCV001861309

NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) SNV
Germline
Chr7:92491337 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
Heimler syndrome 1
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340845 rs_142994610

8 SubmittersRCV000285353RCV000733368RCV001507178RCV001262592RCV003902401

NM_000466.3(PEX1):c.2927-12T>A SNV
Germline
Chr7:92494408 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340962 rs_375062546

2 SubmittersRCV000396793RCV002058679

NM_000466.3(PEX1):c.129+10C>T SNV
Germline
Chr7:92528297 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA10626588 rs_886062508

3 SubmittersRCV000306024RCV002058680

NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) SNV
Germline
Chr7:92489723 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA10629628 rs_886062501

2 SubmittersRCV000374492RCV003758756

NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) SNV
Germline
Chr7:92511622 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
PEX1-related disorder
Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341401 rs_139919229

5 SubmittersRCV000348562RCV003932488RCV000598077RCV001507172

NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) SNV
Germline
Chr7:92511683 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4341409 rs_565049190

5 SubmittersRCV000728937RCV000405009RCV001277057RCV003970059

NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) SNV
Germline
Chr7:92489776 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Condition: not provided
Zellweger spectrum disorders
Heimler syndrome 1
PEX1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA16041143 rs_1057517467

5 SubmittersRCV000409527RCV000411053RCV000598875RCV001865276RCV003475977RCV004577330

NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) SNV
Unknown
Chr7:92489803 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
No Assertion Criteria Provided
CA16041144 rs_1057517480

1 SubmittersRCV000409825RCV000411784

NM_000466.3(PEX1):c.3208-1G>A SNV
Germline
Chr7:92491503 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Condition: not provided
PEX1-related disorder
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16041146 rs_1057517518

7 SubmittersRCV000409017RCV000411432RCV001376544RCV000599082RCV003409567RCV003475988

NM_000466.3(PEX1):c.2927-2A>G SNV
Germline
Chr7:92494398 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16041147 rs_1057517531

3 SubmittersRCV000410270RCV000412213RCV001379134RCV003475992

NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) SNV
Germline
Chr7:92494538 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Condition: not provided
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16041148 rs_1057517481

5 SubmittersRCV000410455RCV000411996RCV001004319RCV001201668RCV003319350RCV003475982

NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) SNV
Germline
Chr7:92499736 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA16041152 rs_1057517485

5 SubmittersRCV000409416RCV000411881RCV001004320RCV001213658RCV003475984RCV005033923

NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) SNV
Unknown
Chr7:92499805 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
No Assertion Criteria Provided
CA16041153 rs_1057517470

1 SubmittersRCV000409499RCV000411020

NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) SNV
Germline
Chr7:92503130 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16041155 rs_1057517468

3 SubmittersRCV000410160RCV000412134RCV002523885RCV003475978

NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter) SNV
Unknown
Chr7:92504882 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
No Assertion Criteria Provided
CA16041159 rs_1057517464

1 SubmittersRCV000410165RCV000412147

NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter) SNV
Unknown
Chr7:92507032 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
No Assertion Criteria Provided
CA16041161 rs_1057517489

1 SubmittersRCV000409232RCV000411702

NM_000466.3(PEX1):c.1670+1G>T SNV
Germline
Chr7:92509328 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA16041162 rs_1057517490

3 SubmittersRCV000410364RCV000411848RCV003475985RCV002523887

NM_000466.3(PEX1):c.1670+1G>A SNV
Germline
Chr7:92509328 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA16041163 rs_1057517490

3 SubmittersRCV000409269RCV000411209RCV002523889

NM_000466.3(PEX1):c.1587+1G>A SNV
Germline
Chr7:92510943 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16041164 rs_1057517469

3 SubmittersRCV000409309RCV000411742RCV001212702RCV003475979

NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) SNV
Germline
Chr7:92511003 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA4341376 rs_754983126

3 SubmittersRCV000410009RCV000412445RCV002523884RCV003475975

NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) SNV
Germline
Chr7:92517968 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Heimler syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA4341576 rs_149806989

6 SubmittersRCV000409397RCV000780585RCV001376604RCV000411910RCV002488843RCV003475991RCV005425947

NM_000466.3(PEX1):c.358-1G>T SNV
Germline
Chr7:92518256 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA16041173 rs_1057517479

4 SubmittersRCV000409170RCV000410312RCV001004523RCV001861401RCV004567892RCV002502434

NM_000466.3(PEX1):c.358-2A>G SNV
Unknown
Chr7:92518257 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
No Assertion Criteria Provided
CA16041174 rs_1057517500

1 SubmittersRCV000409764RCV000410357

NM_000466.3(PEX1):c.348G>A (p.Trp116Ter) SNV
Unknown
Chr7:92519004 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
No Assertion Criteria Provided
CA16041175 rs_1057517487

1 SubmittersRCV000409324RCV000411341

NM_000466.3(PEX1):c.130-1G>C SNV
Unknown
Chr7:92522246 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
No Assertion Criteria Provided
CA16041176 rs_1028247729

1 SubmittersRCV000411284RCV000412347

NM_000466.3(PEX1):c.2T>G (p.Met1Arg) SNV
Germline
Chr7:92528434 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA16041177 rs_766020928

3 SubmittersRCV000410653RCV000411721RCV002230732RCV005044618

NM_000466.3(PEX1):c.2T>C (p.Met1Thr) SNV
Germline
Chr7:92528434 Pathogenic Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder type 1A
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA4341711 rs_766020928

7 SubmittersRCV001174676RCV001232745RCV000410262RCV000412294RCV001250203RCV005033925

NM_000466.3(PEX1):c.1A>T (p.Met1Leu) SNV
Germline
Chr7:92528435 Pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16041178 rs_1057517501

4 SubmittersRCV000409502RCV000411873RCV000598681RCV001384497RCV005033924

NM_000466.3(PEX1):c.1587+5T>C SNV
Germline
Chr7:92510939 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341370 rs_199526105

6 SubmittersRCV000730939RCV001162173RCV001277308

NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) SNV
Germline
Chr7:92510952 Conflicting classifications of pathogenicity Condition: not provided
not specified
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4341372 rs_144942544

15 SubmittersRCV000584993RCV000591691RCV000660395RCV001391319RCV001578749RCV001083497RCV003925755

NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) SNV
Germline
Chr7:92494331 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Zellweger spectrum disorders
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA4340941 rs_61750428

6 SubmittersRCV000590014RCV000818703RCV000984292RCV000984291RCV002232225RCV001783092RCV005392144

NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) SNV
Germline
Chr7:92504758 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4341232 rs_145350631

5 SubmittersRCV001203812RCV000596374RCV004955684

NM_000466.3(PEX1):c.2509C>T (p.Leu837=) SNV
Germline
Chr7:92501581 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4341106 rs_371701421

2 SubmittersRCV001442207RCV000591443

NM_000466.3(PEX1):c.1725G>A (p.Leu575=) SNV
Germline
Chr7:92507072 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4341315 rs_150667796

5 SubmittersRCV000593815RCV001086000RCV001277307RCV003927907

NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) SNV
Germline
Chr7:92491339 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340846 rs_147870525

4 SubmittersRCV000592002RCV001275212RCV003905523

NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln) SNV
Germline
Chr7:92504743 Conflicting classifications of pathogenicity Condition: not provided
PEX1-related disorder
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341225 rs_201443294

3 SubmittersRCV000598166RCV004752960RCV002531017

NM_000466.3(PEX1):c.1815A>G (p.Lys605=) SNV
Germline
Chr7:92506333 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341282 rs_112688556

3 SubmittersRCV000594853RCV001277306

NM_000466.3(PEX1):c.2927-4C>T SNV
Germline
Chr7:92494400 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA658796972 rs_1033915282

2 SubmittersRCV000597227RCV003758872

NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) SNV
Germline
Chr7:92492962 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340891 rs_150190899

3 SubmittersRCV000598310RCV001277050

NM_000466.3(PEX1):c.1284C>T (p.Ala428=) SNV
Germline
Chr7:92513923 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4341444 rs_145153467

4 SubmittersRCV001277311RCV000598186

NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) SNV
Germline
Chr7:92489717 Conflicting classifications of pathogenicity Zellweger spectrum disorders
PEX1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4340786 rs_753334806

4 SubmittersRCV001398051RCV003905554RCV000596039

NM_000466.3(PEX1):c.3824G>A (p.Arg1275Gln) SNV
Germline
Chr7:92487485 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340717 rs_150793635

2 SubmittersRCV000595661RCV002532668

NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) SNV
Germline
Chr7:92491427 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Peroxisome biogenesis disorder due to PEX1 defect
Criteria Provided
Conflicting Classifications
CA4340856 rs_753699011

5 SubmittersRCV000597351RCV002476342RCV002532681RCV002272300

NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) SNV
Germline
Chr7:92499782 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4341064 rs_201719745

5 SubmittersRCV000596765RCV001277051RCV003945450

NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) SNV
Germline
Chr7:92489350 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368159552 rs_1473858573

1 SubmittersRCV000633315

NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) SNV
Germline
Chr7:92489304 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Zellweger spectrum disorders
not specified
Criteria Provided
Conflicting Classifications
CA4340751 rs_553001596

3 SubmittersRCV000660614RCV001451234RCV005407851

NM_000466.3(PEX1):c.3207+2C>A SNV
Unknown
Chr7:92492951 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) No Assertion Criteria Provided
CA368165771 rs_1554368097

1 SubmittersRCV000674724

NM_000466.3(PEX1):c.472+1G>A SNV
Germline
Chr7:92518140 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA161974047 rs_762852144

3 SubmittersRCV000668226RCV003338727RCV005046878

NM_000466.3(PEX1):c.273+1G>A SNV
Germline
Chr7:92522101 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368204649 rs_1554376597

5 SubmittersRCV000674474RCV001377626RCV002499189RCV003472170

NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) SNV
Germline
Chr7:92528431 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA4341710 rs_762679408

5 SubmittersRCV000674254RCV001201378RCV003472166RCV005034275

NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) SNV
Germline
Chr7:92493083 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Conflicting Classifications
CA161954483 rs_954814470

5 SubmittersRCV000669293RCV000729582RCV001332474RCV002531221RCV003472113

NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) SNV
Germline
Chr7:92493122 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368167099 rs_1484321655

3 SubmittersRCV000666769RCV001004316RCV001377622RCV003472081

NM_000466.3(PEX1):c.2719-2A>G SNV
Germline
Chr7:92496779 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368171328 rs_1554369234

3 SubmittersRCV000668286RCV002530739RCV003472097

NM_000466.3(PEX1):c.2071+2T>C SNV
Germline
Chr7:92504730 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Single Submitter
CA368182701 rs_1478905473

2 SubmittersRCV000668401RCV003594017

NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) SNV
Germline
Chr7:92506251 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
PEX1-related disorder
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA4341272 rs_61750409

5 SubmittersRCV000665705RCV001193608RCV001868206RCV003420172RCV003472072

NM_000466.3(PEX1):c.1587+2T>C SNV
Unknown
Chr7:92510942 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) No Assertion Criteria Provided
CA368188660 rs_1554373578

1 SubmittersRCV000666658

NM_000466.3(PEX1):c.1239+1G>A SNV
Unknown
Chr7:92517275 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) No Assertion Criteria Provided
CA368196891 rs_756876301

1 SubmittersRCV000673475

NM_000466.3(PEX1):c.1A>C (p.Met1Leu) SNV
Germline
Chr7:92528435 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368207556 rs_1057517501

3 SubmittersRCV000667385RCV001091386RCV003767954

NM_000466.3(PEX1):c.3438+1G>T SNV
Unknown
Chr7:92491271 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) No Assertion Criteria Provided
CA368163233 rs_1554367284

1 SubmittersRCV000673696

NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) SNV
Germline
Chr7:92494567 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Condition: not provided
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA4340993 rs_61750425

4 SubmittersRCV000672142RCV001242973RCV001662740RCV003472144

NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) SNV
Germline
Chr7:92507020 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA161966090 rs_61750407

4 SubmittersRCV000664531RCV003594015RCV003472062

NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter) SNV
Unknown
Chr7:92511649 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) No Assertion Criteria Provided
CA368191074 rs_1554373801

1 SubmittersRCV000666081

NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) SNV
Germline
Chr7:92517946 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Single Submitter
CA368201163 rs_1554375599

3 SubmittersRCV000665963RCV001229220

NM_000466.3(PEX1):c.473-1G>C SNV
Unknown
Chr7:92518043 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) No Assertion Criteria Provided
CA368201897 rs_1554375661

1 SubmittersRCV000673127

NM_000466.3(PEX1):c.473-1G>A SNV
Unknown
Chr7:92518043 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) No Assertion Criteria Provided
CA368201892 rs_1554375661

1 SubmittersRCV000673458

NM_000466.3(PEX1):c.358-2A>C SNV
Germline
Chr7:92518257 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368202694 rs_1057517500

5 SubmittersRCV000670124RCV002477500RCV001855537RCV004568536

NM_000466.3(PEX1):c.357+1G>A SNV
Unknown
Chr7:92518994 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) No Assertion Criteria Provided
CA368202814 rs_866144313

1 SubmittersRCV000668706

NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter) SNV
Germline
Chr7:92492955 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368165801 rs_1562846113

2 SubmittersRCV000680063RCV001384961RCV003472182

NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) SNV
Germline
Chr7:92494568 Pathogenic/Likely pathogenic Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA161955790 rs_866184460

5 SubmittersRCV000704649RCV001580539RCV004796289RCV003472246

NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) SNV
Germline
Chr7:92517438 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4341497 rs_138905930

4 SubmittersRCV000728121RCV001363390RCV004958062

NM_000466.3(PEX1):c.3517C>T (p.Gln1173Ter) SNV
Germline
Chr7:92489833 Likely pathogenic Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA368161729 rs_1562842708

2 SubmittersRCV000728637RCV005046985

NM_000466.3(PEX1):c.1283C>T (p.Ala428Val) SNV
Germline
Chr7:92513924 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341445 rs_376883207

2 SubmittersRCV000729209RCV001868939

NM_000466.3(PEX1):c.23C>A (p.Ala8Glu) SNV
Germline
Chr7:92528413 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341705 rs_537242377

2 SubmittersRCV000729269RCV002535112

NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) SNV
Germline
Chr7:92491494 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
not specified
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340868 rs_140963147

8 SubmittersRCV000730111RCV001082990RCV001275213RCV001816798RCV003953310

NM_000466.3(PEX1):c.2084T>C (p.Met695Thr) SNV
Germline
Chr7:92503183 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341209 rs_112747515

2 SubmittersRCV000730317RCV001855635

NM_000466.3(PEX1):c.3031-9T>C SNV
Germline
Chr7:92493138 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA161954534 rs_113162185

3 SubmittersRCV000730318RCV002536443

NM_000466.3(PEX1):c.2268A>G (p.Lys756=) SNV
Germline
Chr7:92502038 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA456482968 rs_1434174453

3 SubmittersRCV000730319RCV001448407RCV003983187

NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) SNV
Germline
Chr7:92517473 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341502 rs_371309198

3 SubmittersRCV000731755RCV001164201RCV001454268

NM_000466.3(PEX1):c.1803+1G>T SNV
Germline
Chr7:92506993 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA368187088 rs_1562857871

1 SubmittersRCV000731770

NM_000466.3(PEX1):c.2868T>A (p.Val956=) SNV
Germline
Chr7:92494545 Conflicting classifications of pathogenicity Condition: not provided
not specified
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340987 rs_200663477

5 SubmittersRCV000732143RCV001193611RCV001504524RCV003965534

NM_000466.3(PEX1):c.1434T>G (p.Leu478=) SNV
Germline
Chr7:92511629 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341402 rs_757668497

3 SubmittersRCV000732191RCV001087466

NM_000466.3(PEX1):c.889A>G (p.Ile297Val) SNV
Germline
Chr7:92517626 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341527 rs_181796768

3 SubmittersRCV000733464RCV001277313

NM_000466.3(PEX1):c.2646G>A (p.Pro882=) SNV
Germline
Chr7:92499776 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
not specified
Criteria Provided
Conflicting Classifications
CA4341062 rs_775421085

3 SubmittersRCV000734198RCV001478727RCV005436041

NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) SNV
Germline
Chr7:92501938 Pathogenic Zellweger spectrum disorders
Peroxisome biogenesis disorder
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA4341148 rs_61750417

4 SubmittersRCV000798670RCV000780584RCV003472313

NM_000466.3(PEX1):c.1900+2T>C SNV
Germline
Chr7:92506246 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder
Zellweger spectrum disorders
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA368184509 rs_1562857198

3 SubmittersRCV000780587RCV001377624RCV001570534

NM_000466.3(PEX1):c.130-2A>G SNV
Germline
Chr7:92522247 Pathogenic Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368205303 rs_1585260993

3 SubmittersRCV001091385RCV001796215RCV005614447

NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter) SNV
Germline
Chr7:92517352 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368197640 rs_1585254187

1 SubmittersRCV002234193

NM_000466.3(PEX1):c.2783+2T>C SNV
Germline
Chr7:92496711 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368170746 rs_1585224312

2 SubmittersRCV001830708

NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) SNV
Germline
Chr7:92501532 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4341104 rs_143283146

3 SubmittersRCV001277305RCV002540751

NM_000466.3(PEX1):c.147G>A (p.Val49=) SNV
Germline
Chr7:92522228 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Condition: not provided
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4341673 rs_202230667

7 SubmittersRCV000904646RCV001277316RCV001578708RCV001578707RCV001729741RCV003958200

NM_000466.3(PEX1):c.96G>A (p.Pro32=) SNV
Germline
Chr7:92528340 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA456484175 rs_1445565547

2 SubmittersRCV001162273RCV001500195

NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) SNV
Germline
Chr7:92518210 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA161974140 rs_201415996

5 SubmittersRCV001030786RCV001004522RCV001869414RCV001784534

NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter) SNV
Germline
Chr7:92513867 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Criteria Provided
Single Submitter
CA368192451 rs_1585248089

1 SubmittersRCV001004517

NM_000466.3(PEX1):c.180G>A (p.Trp60Ter) SNV
Germline
Chr7:92522195 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Criteria Provided
Single Submitter
CA368205062 rs_1408895107

1 SubmittersRCV001004524

NM_000466.3(PEX1):c.130-1G>T SNV
Germline
Chr7:92522246 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA161978977 rs_1028247729

3 SubmittersRCV001004525RCV001378209RCV002290989RCV004569849

NM_000466.3(PEX1):c.1483+1G>A SNV
Germline
Chr7:92511579 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368190525 rs_1585244586

2 SubmittersRCV001030044RCV002552037

NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) SNV
Germline
Chr7:92502010 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Condition: not provided
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA161960410 rs_374010060

4 SubmittersRCV001832483RCV003480928RCV004753183

NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter) SNV
Germline
Chr7:92506331 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368185381 rs_1792186595

1 SubmittersRCV001047697

NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp) SNV
Germline
Chr7:92507097 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4341318 rs_199989676

3 SubmittersRCV001833649RCV004960426

NM_000466.3(PEX1):c.1900+1G>A SNV
Germline
Chr7:92506247 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA4341271 rs_770447891

1 SubmittersRCV001036555

NM_000466.3(PEX1):c.2226+2T>C SNV
Germline
Chr7:92503039 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA368180920 rs_1792005848

1 SubmittersRCV001090901

NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) SNV
Germline
Chr7:92489418 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4340763 rs_777384403

3 SubmittersRCV001159089RCV001476481RCV003908411

NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) SNV
Germline
Chr7:92489807 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340800 rs_374673391

2 SubmittersRCV001160447RCV001419799

NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) SNV
Germline
Chr7:92492965 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340892 rs_768417678

3 SubmittersRCV001162081RCV001423195

NM_000466.3(PEX1):c.3637-14T>C SNV
Germline
Chr7:92489437 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340768 rs_745612436

2 SubmittersRCV001160446RCV002070981

NM_000466.3(PEX1):c.2927-8T>C SNV
Germline
Chr7:92494404 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4340960 rs_778618662

2 SubmittersRCV001164104RCV001394600

NM_000466.3(PEX1):c.1901-14T>C SNV
Germline
Chr7:92504916 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA1139660136 rs_1792111444

3 SubmittersRCV001160558RCV002483910RCV003759000

NM_000466.3(PEX1):c.1804-12A>G SNV
Germline
Chr7:92506356 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA161965655 rs_143041528

2 SubmittersRCV001160559RCV002070986

NM_000466.3(PEX1):c.1671-13A>G SNV
Germline
Chr7:92507139 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341327 rs_757960956

2 SubmittersRCV001162172RCV002071012

NM_000466.3(PEX1):c.2071+1G>T SNV
Germline
Chr7:92504731 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder
Zellweger spectrum disorders
Condition: not provided
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA161964536 rs_267608177

4 SubmittersRCV001193609RCV001377623RCV003313184RCV003473732

NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) SNV
Germline
Chr7:92501611 Pathogenic Zellweger spectrum disorders
Heimler syndrome 1
PEX1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA368175932 rs_1232449804

4 SubmittersRCV001206563RCV004570441RCV003983849

NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) SNV
Germline
Chr7:92503067 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Condition: not provided
Inborn genetic diseases
PEX1-related disorder
Criteria Provided
Conflicting Classifications
CA4341198 rs_141510219

7 SubmittersRCV001247525RCV001250066RCV003481031RCV004034895RCV003393917

NM_000466.3(PEX1):c.3208-3T>C SNV
Germline
Chr7:92491505 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Criteria Provided
Conflicting Classifications
CA4340872 rs_763767937

3 SubmittersRCV001237503RCV004727025

NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) SNV
Germline
Chr7:92517617 Conflicting classifications of pathogenicity Zellweger spectrum disorders
PEX1-related disorder
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Criteria Provided
Conflicting Classifications
CA4341522 rs_751506204

4 SubmittersRCV001296754RCV003898288RCV005394910

NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) SNV
Germline
Chr7:92507055 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4341312 rs_370483961

3 SubmittersRCV001324387RCV001760414

NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) SNV
Germline
Chr7:92517712 Conflicting classifications of pathogenicity Zellweger spectrum disorders
PEX1-related disorder
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Conflicting Classifications
CA4341536 rs_780119112

4 SubmittersRCV001316857RCV003898302RCV005394937

NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) SNV
Germline
Chr7:92517794 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Criteria Provided
Conflicting Classifications
CA4341552 rs_753823218

3 SubmittersRCV001339992RCV002476567

NM_000466.3(PEX1):c.3207+1G>C SNV
Germline
Chr7:92492952 Pathogenic/Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA161954270 rs_267608181

2 SubmittersRCV001377621RCV003473904

NM_000466.3(PEX1):c.2583+1G>T SNV
Germline
Chr7:92501506 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA4341103 rs_771586413

1 SubmittersRCV001379083

NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter) SNV
Germline
Chr7:92489900 Pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368162260 rs_1459743428

2 SubmittersRCV001382765RCV003473940

NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter) SNV
Germline
Chr7:92491409 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368164174 rs_2116059303

1 SubmittersRCV001390901

NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys) SNV
Germline
Chr7:92493123 Pathogenic/Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA368167101 rs_1791439311

3 SubmittersRCV001380782RCV003473928RCV003984857

NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter) SNV
Germline
Chr7:92511607 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368190734 rs_2116209376

1 SubmittersRCV001380151

NM_000466.3(PEX1):c.130-2A>T SNV
Germline
Chr7:92522247 Likely pathogenic Peroxisome biogenesis disorder
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368205304 rs_1585260993

2 SubmittersRCV001420907RCV001859336

NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) SNV
Germline
Chr7:92492994 Conflicting classifications of pathogenicity Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Criteria Provided
Conflicting Classifications
CA161954341 rs_1009877821

3 SubmittersRCV001496742RCV001578741RCV001578742RCV001578740

NM_000466.3(PEX1):c.3207+1G>A SNV
Germline
Chr7:92492952 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA368165784 rs_267608181

1 SubmittersRCV001561590

NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) SNV
Germline
Chr7:92501647 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368176345 rs_1306607552

2 SubmittersRCV001580756RCV003474010

NM_000466.3(PEX1):c.1976T>G (p.Val659Gly) SNV
Germline
Chr7:92504827 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA368183605 rs_1792104355

1 SubmittersRCV001727408

NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser) SNV
Germline
Chr7:92499786 Conflicting classifications of pathogenicity Condition: not provided
Heimler syndrome 1
Criteria Provided
Conflicting Classifications
CA368173939 rs_1362906637

2 SubmittersRCV001756553RCV003474019

NM_000466.3(PEX1):c.2227-11T>A SNV
Germline
Chr7:92502090 Conflicting classifications of pathogenicity Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA4341176 rs_760316851

2 SubmittersRCV001752339RCV005095010

NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter) SNV
Germline
Chr7:92511652 Pathogenic/Likely pathogenic Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA161968969 rs_758402265

2 SubmittersRCV001782596RCV001885188

NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter) SNV
Germline
Chr7:92507002 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368187163 rs_1792222710

1 SubmittersRCV001919330

NM_000466.3(PEX1):c.3483G>C (p.Leu1161Phe) SNV
Germline
Chr7:92489867 Conflicting classifications of pathogenicity Zellweger spectrum disorders
PEX1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4340810 rs_375607384

3 SubmittersRCV001979003RCV004753446RCV005382296

NM_000466.3(PEX1):c.3438+1G>A SNV
Germline
Chr7:92491271 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368163237 rs_1554367284

1 SubmittersRCV002017918

NM_000466.3(PEX1):c.357+1G>C SNV
Germline
Chr7:92518994 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368202817 rs_866144313

1 SubmittersRCV002017935

NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter) SNV
Germline
Chr7:92507125 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368188022 rs_2116181877

1 SubmittersRCV001941647

NM_000466.3(PEX1):c.357+1G>T SNV
Germline
Chr7:92518994 Pathogenic/Likely pathogenic Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA161974656 rs_866144313

3 SubmittersRCV001999185RCV002486589RCV003475275

NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter) SNV
Germline
Chr7:92503105 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368181595 rs_1792013985

1 SubmittersRCV001901725

NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter) SNV
Germline
Chr7:92501574 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368175468 rs_2116145324

1 SubmittersRCV001892269

NM_000466.3(PEX1):c.2719-1G>A SNV
Germline
Chr7:92496778 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368171311 rs_1791673946

1 SubmittersRCV002030082

NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter) SNV
Germline
Chr7:92513865 Pathogenic/Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368192431 rs_1467651370

2 SubmittersRCV001946843RCV003475231

NM_000466.3(PEX1):c.955C>T (p.Gln319Ter) SNV
Germline
Chr7:92517560 Pathogenic/Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368198797 rs_2116244185

2 SubmittersRCV001909016RCV003475157

NM_000466.3(PEX1):c.607G>T (p.Gly203Ter) SNV
Germline
Chr7:92517908 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368200943 rs_1472300213

1 SubmittersRCV001949325

NM_000466.3(PEX1):c.34G>T (p.Gly12Ter) SNV
Germline
Chr7:92528402 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368207489 rs_1793402720

1 SubmittersRCV001949339

NM_000466.3(PEX1):c.88C>T (p.His30Tyr) SNV
Germline
Chr7:92528348 Conflicting classifications of pathogenicity Zellweger spectrum disorders
PEX1-related disorder
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4341697 rs_375045292

4 SubmittersRCV001984463RCV003407977RCV004770292RCV005382291

NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter) SNV
Germline
Chr7:92504840 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368183711 rs_2116165809

1 SubmittersRCV001948822

NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro) SNV
Germline
Chr7:92493122 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368167097 rs_1484321655

1 SubmittersRCV001998051

NM_000466.3(PEX1):c.129+1G>A SNV
Germline
Chr7:92528306 Likely pathogenic Peroxisome biogenesis disorder Criteria Provided
Single Submitter
CA368207294 rs_2116298327

1 SubmittersRCV002266283

NM_000466.3(PEX1):c.1240-1551A>G SNV
Germline
Chr7:92515518 Conflicting classifications of pathogenicity Heimler syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA161971777 rs_547793908

2 SubmittersRCV002293378RCV005239355

NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter) SNV
Unknown
Chr7:92517416 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Criteria Provided
Single Submitter
CA368198079 rs_140990231

1 SubmittersRCV002306633

NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter) SNV
Unknown
Chr7:92489905 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368162316 rs_2484613763

1 SubmittersRCV002308004

NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter) SNV
Unknown
Chr7:92502073 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368178807 rs_2484662041

1 SubmittersRCV002308078

NM_000466.3(PEX1):c.253G>T (p.Gly85Ter) SNV
Unknown
Chr7:92522122 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368204730 rs_2484712710

1 SubmittersRCV002308145

NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter) SNV
Unknown
Chr7:92506308 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368185103 rs_2484673578

1 SubmittersRCV002308149

NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter) SNV
Unknown
Chr7:92494526 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368168457 rs_2484638196

1 SubmittersRCV002306888

NM_000466.3(PEX1):c.659C>A (p.Ser220Ter) SNV
Unknown
Chr7:92517856 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368200648 rs_759048090

1 SubmittersRCV002306952

NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter) SNV
Unknown
Chr7:92491412 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368164187 rs_2484621408

1 SubmittersRCV002307331

NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter) SNV
Unknown
Chr7:92517341 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368197478 rs_2484701919

1 SubmittersRCV002310093

NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter) SNV
Germline
Chr7:92503068 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA368181269 rs_758268792

2 SubmittersRCV002310100RCV005032237

NM_000466.3(PEX1):c.205C>T (p.Gln69Ter) SNV
Germline
Chr7:92522170 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368204940 rs_1469341456

4 SubmittersRCV002310139RCV005042801RCV003475336RCV003594184

NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter) SNV
Unknown
Chr7:92506331 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368185387 rs_1792186595

1 SubmittersRCV002310227

NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter) SNV
Unknown
Chr7:92491399 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368164077 rs_2484621318

1 SubmittersRCV002310229

NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter) SNV
Unknown
Chr7:92511039 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368190395 rs_2484685958

1 SubmittersRCV002310278

NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter) SNV
Unknown
Chr7:92511700 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368191643 rs_2484687812

1 SubmittersRCV002310301

NM_000466.3(PEX1):c.716C>G (p.Ser239Ter) SNV
Unknown
Chr7:92517799 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368200322 rs_1792868421

1 SubmittersRCV002310464

NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter) SNV
Unknown
Chr7:92506272 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368184726 rs_2484673420

1 SubmittersRCV002310558

NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter) SNV
Unknown
Chr7:92506996 Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter
CA368187112 rs_2484676110

1 SubmittersRCV002308443

NM_000466.3(PEX1):c.548G>A (p.Arg183Gln) SNV
Germline
Chr7:92517967 Conflicting classifications of pathogenicity Inborn genetic diseases
Zellweger spectrum disorders
Criteria Provided
Conflicting Classifications
CA161973896 rs_371413721

2 SubmittersRCV003072731RCV003085908

NM_000466.3(PEX1):c.3637-1G>A SNV
Germline
Chr7:92489424 Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368160510 rs_2484610293

2 SubmittersRCV002586445RCV003475396

NM_000466.3(PEX1):c.877C>T (p.Gln293Ter) SNV
Germline
Chr7:92517638 Pathogenic/Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368199261 rs_1792857897

2 SubmittersRCV002583240RCV003475395

NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter) SNV
Germline
Chr7:92511688 Pathogenic/Likely pathogenic Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368191489 rs_2484687761

3 SubmittersRCV004571247RCV005034411RCV002794871

NM_000466.3(PEX1):c.1359+1G>C SNV
Germline
Chr7:92513847 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368192270 rs_2484692157

1 SubmittersRCV002838808

NM_000466.3(PEX1):c.3767+2T>C SNV
Germline
Chr7:92489291 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368158994 rs_745692619

1 SubmittersRCV002838198

NM_000466.3(PEX1):c.2072-1G>A SNV
Germline
Chr7:92503196 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368182361 rs_776263154

1 SubmittersRCV002857840

NM_000466.3(PEX1):c.833C>G (p.Ser278Ter) SNV
Germline
Chr7:92517682 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368199544 rs_2484703148

1 SubmittersRCV002912654

NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter) SNV
Germline
Chr7:92517467 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368198403 rs_1792847005

1 SubmittersRCV002899352

NM_000466.3(PEX1):c.2784-1G>C SNV
Germline
Chr7:92494630 Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368170284 rs_2484638988

2 SubmittersRCV002996430RCV003475459

NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter) SNV
Germline
Chr7:92504753 Pathogenic Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA368182924 rs_2484668233

2 SubmittersRCV003010320RCV005034580

NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter) SNV
Germline
Chr7:92491301 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368163370 rs_2484620768

1 SubmittersRCV003029094

NM_000466.3(PEX1):c.273+2T>G SNV
Germline
Chr7:92522100 Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368204640 rs_1793074319

2 SubmittersRCV003030631RCV003475474

NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter) SNV
Germline
Chr7:92501670 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368176603 rs_2484660560

1 SubmittersRCV003047646

NM_000466.3(PEX1):c.3031-1G>A SNV
Germline
Chr7:92493130 Likely pathogenic Zellweger spectrum disorders
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368167139 rs_2484629571

2 SubmittersRCV003044847RCV003475482

NM_000466.3(PEX1):c.484C>A (p.Pro162Thr) SNV
Unknown
Chr7:92518031 Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) Criteria Provided
Single Submitter
CA368201817 rs_2116247732

1 SubmittersRCV003223550

NM_000466.3(PEX1):c.2719-1G>T SNV
Germline
Chr7:92496778 Pathogenic Peroxisome biogenesis disorder 1A (Zellweger) Criteria Provided
Single Submitter
CA368171305 rs_1791673946

1 SubmittersRCV003227552

NM_000466.3(PEX1):c.3695C>G (p.Ser1232Ter) SNV
Unknown
Chr7:92489365 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368159741 rs_2484609816

1 SubmittersRCV003476737

NM_000466.3(PEX1):c.382C>T (p.Gln128Ter) SNV
Unknown
Chr7:92518231 Pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368202536 rs_1562867409

1 SubmittersRCV003476740

NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter) SNV
Germline
Chr7:92489369 Pathogenic/Likely pathogenic Heimler syndrome 1
Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA368159802 rs_1393663701

3 SubmittersRCV003476744RCV003759875RCV005047599

NM_000466.3(PEX1):c.1450G>T (p.Glu484Ter) SNV
Unknown
Chr7:92511613 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368190774 rs_2484687511

1 SubmittersRCV003476745

NM_000466.3(PEX1):c.1587+1G>C SNV
Unknown
Chr7:92510943 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368188665 rs_1057517469

1 SubmittersRCV003476748

NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter) SNV
Germline
Chr7:92489845 Pathogenic/Likely pathogenic Heimler syndrome 1
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368161789 rs_2484613318

2 SubmittersRCV003476751RCV003759876

NM_000466.3(PEX1):c.2392C>G (p.Arg798Gly) SNV
Unknown
Chr7:92501914 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA161960309 rs_61750419

1 SubmittersRCV003476754

NM_000466.3(PEX1):c.2072-1G>C SNV
Unknown
Chr7:92503196 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA4341212 rs_776263154

1 SubmittersRCV003476759

NM_000466.3(PEX1):c.1585C>T (p.Gln529Ter) SNV
Unknown
Chr7:92510946 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA161968460 rs_763862595

1 SubmittersRCV003476762

NM_000466.3(PEX1):c.3169G>T (p.Glu1057Ter) SNV
Unknown
Chr7:92492991 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368166176 rs_2484628617

1 SubmittersRCV003476765

NM_000466.3(PEX1):c.1652T>A (p.Leu551Ter) SNV
Unknown
Chr7:92509347 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368188260 rs_2484681972

1 SubmittersRCV003476769

NM_000466.3(PEX1):c.349G>T (p.Glu117Ter) SNV
Unknown
Chr7:92519003 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368202885 rs_2484706839

1 SubmittersRCV003476770

NM_000466.3(PEX1):c.1804G>T (p.Gly602Ter) SNV
Unknown
Chr7:92506344 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368185554 rs_767858785

1 SubmittersRCV003476771

NM_000466.3(PEX1):c.3439-1G>T SNV
Unknown
Chr7:92489912 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368162381 rs_2484613794

1 SubmittersRCV003476772

NM_000466.3(PEX1):c.1240-2A>G SNV
Unknown
Chr7:92513969 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368193539 rs_1257140426

1 SubmittersRCV003476774

NM_000466.3(PEX1):c.1777G>T (p.Gly593Ter) SNV
Unknown
Chr7:92507020 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
CA368187252 rs_61750407

1 SubmittersRCV003476777

NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter) SNV
Germline
Chr7:92501998 Pathogenic/Likely pathogenic Heimler syndrome 1
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368177961 rs_751076530

2 SubmittersRCV003476779RCV003594694

NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter) SNV
Germline
Chr7:92491423 Pathogenic Peroxisome biogenesis disorder Criteria Provided
Single Submitter
CA161953128 rs_1042891094

1 SubmittersRCV003479817

NM_000466.3(PEX1):c.829C>T (p.Gln277Ter) SNV
Germline
Chr7:92517686 Pathogenic/Likely pathogenic Condition: not provided
Zellweger spectrum disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA368199569 rs_1792861698

2 SubmittersRCV003480437RCV005100305

NM_000466.3(PEX1):c.3439-2A>G SNV
Germline
Chr7:92489913 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368162390 rs_2484613798

1 SubmittersRCV003594789

NM_000466.3(PEX1):c.2227-1G>C SNV
Germline
Chr7:92502080 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368178885 rs_2484662083

1 SubmittersRCV003594957

NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter) SNV
Germline
Chr7:92517351 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA161973254 rs_910803999

1 SubmittersRCV003593732

NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter) SNV
Germline
Chr7:92494625 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368170245 rs_1791556897

1 SubmittersRCV003594538

NM_000466.3(PEX1):c.2718+1G>A SNV
Germline
Chr7:92499703 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368173067 rs_2484655081

1 SubmittersRCV003760858

NM_000466.3(PEX1):c.951G>A (p.Trp317Ter) SNV
Germline
Chr7:92517564 Pathogenic/Likely pathogenic Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA368198818 rs_2484702728

2 SubmittersRCV003760871RCV005047742

NM_000466.3(PEX1):c.794G>A (p.Trp265Ter) SNV
Germline
Chr7:92517721 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368199804 rs_2484703325

1 SubmittersRCV003758351

NM_000466.3(PEX1):c.1901-2A>G SNV
Germline
Chr7:92504904 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368184294 rs_2484669193

1 SubmittersRCV003758368

NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter) SNV
Germline
Chr7:92517488 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368198495 rs_2484702514

1 SubmittersRCV003758359

NM_000466.3(PEX1):c.2416+1G>A SNV
Germline
Chr7:92501889 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368176775 rs_2484661382

1 SubmittersRCV003758640

NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter) SNV
Germline
Chr7:92506293 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368184912 rs_2484673537

1 SubmittersRCV003758675

NM_000466.3(PEX1):c.1901-1G>T SNV
Germline
Chr7:92504903 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368184286 rs_1792111046

1 SubmittersRCV003759252

NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter) SNV
Germline
Chr7:92517276 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA161973191 rs_267608175

1 SubmittersRCV003759626

NM_000466.3(PEX1):c.556G>T (p.Glu186Ter) SNV
Germline
Chr7:92517959 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368201253 rs_1294268789

1 SubmittersRCV003760242

NM_000466.3(PEX1):c.1587+1G>T SNV
Germline
Chr7:92510943 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368188668 rs_1057517469

1 SubmittersRCV003825119

NM_000466.3(PEX1):c.2417-1G>T SNV
Germline
Chr7:92501674 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368176649 rs_1365047750

1 SubmittersRCV003824134

NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter) SNV
Germline
Chr7:92503121 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter
CA368181691 rs_1792014859

1 SubmittersRCV003874237

NM_000466.3(PEX1):c.2417-2A>G SNV
Unknown
Chr7:92501675 Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter
rs_2484660589

1 SubmittersRCV004574488

NM_000466.3(PEX1):c.3655C>T (p.Gln1219Ter) SNV
Germline
Chr7:92489405 Likely pathogenic PEX1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004731696

NM_000466.3(PEX1):c.2071+2T>G SNV
Germline
Chr7:92504730 Likely pathogenic Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter

1 SubmittersRCV005035933

NM_000466.3(PEX1):c.1769T>G (p.Leu590Arg) SNV
Germline
Chr7:92507028 Likely pathogenic Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter

1 SubmittersRCV005048101

NM_000466.3(PEX1):c.1239+2T>A SNV
Germline
Chr7:92517274 Likely pathogenic Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter

1 SubmittersRCV005035936

NM_000466.3(PEX1):c.274-2A>T SNV
Germline
Chr7:92519080 Likely pathogenic Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Criteria Provided
Single Submitter

1 SubmittersRCV005048106

NM_000466.3(PEX1):c.244C>T (p.Gln82Ter) SNV
Germline
Chr7:92522131 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter

1 SubmittersRCV005118968

NM_000466.3(PEX1):c.2527G>A (p.Gly843Ser) SNV
Germline
Chr7:92501563 Likely pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter

1 SubmittersRCV005200430

NM_000466.3(PEX1):c.3316C>T (p.Gln1106Ter) SNV
Germline
Chr7:92491394 Likely pathogenic Zellweger spectrum disorders No Assertion Criteria Provided

1 SubmittersRCV005611323

NM_000466.3(PEX1):c.640C>T (p.Gln214Ter) SNV
Germline
Chr7:92517875 Likely pathogenic Zellweger spectrum disorders No Assertion Criteria Provided

1 SubmittersRCV005611331

NM_000466.3(PEX1):c.2909G>C (p.Gly970Ala) SNV
Germline
Chr7:92494504 Likely pathogenic Zellweger spectrum disorders No Assertion Criteria Provided

1 SubmittersRCV005611332

NM_000466.3(PEX1):c.1407G>A (p.Trp469Ter) SNV
Germline
Chr7:92511656 Likely pathogenic Zellweger spectrum disorders No Assertion Criteria Provided

1 SubmittersRCV005611347