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 SubmittersRCV000007946 RCV000022416 RCV000032927 RCV000078922 RCV000345695 RCV000661947 RCV000763596 RCV000791271 RCV001004322 RCV001074120 RCV001266794 RCV001376560 RCV001731280 RCV003398462 RCV004786245
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 SubmittersRCV000007949 RCV001248383 RCV003473054 RCV003480024 RCV000763597
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 SubmittersRCV000078919 RCV000672527 RCV001854392 RCV003474678
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 SubmittersRCV000078921 RCV000356824 RCV001507118 RCV000859827
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 SubmittersRCV000078924 RCV000368382 RCV001277303 RCV001252811 RCV003935024 RCV004791262
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 SubmittersRCV000078927 RCV000358779 RCV001200182 RCV001507135
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 SubmittersRCV000078930 RCV001246411
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 SubmittersRCV000153672 RCV000298239 RCV001240934 RCV001328780 RCV001824124 RCV002516087
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 SubmittersRCV000169385 RCV001250202 RCV001215871 RCV002307427 RCV002291587 RCV003474911 RCV005031695
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 SubmittersRCV000599041 RCV002228604 RCV001332473 RCV003474896 RCV002516527 RCV004555855 RCV001194281 RCV001810430
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 SubmittersRCV000169227 RCV000657614 RCV001004323 RCV001220088 RCV002265653 RCV003474901 RCV005031692
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 SubmittersRCV000169518 RCV003593925
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 SubmittersRCV000171529 RCV002515240
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 SubmittersRCV000175014 RCV001079967 RCV003937570
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 SubmittersRCV000175612 RCV000267284 RCV001277317
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 SubmittersRCV000178106 RCV001411798 RCV003955062
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 SubmittersRCV000178773 RCV000764731 RCV002516781
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 SubmittersRCV000178774 RCV000906584 RCV001507201
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 SubmittersRCV000178775 RCV001081673
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 SubmittersRCV000201290 RCV001075286 RCV001810437 RCV003417729 RCV004701263 RCV002517304
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 SubmittersRCV000201302 RCV001377625 RCV001075087 RCV002500626
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 SubmittersRCV000201308 RCV000633316 RCV001004518 RCV001376605 RCV001526999 RCV001795328 RCV003422106 RCV005031756
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 SubmittersRCV000240787 RCV001004317 RCV002229187 RCV002251446 RCV002515571 RCV005042454 RCV003226251
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 SubmittersRCV000239086 RCV000886828 RCV001507190 RCV003939908
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 SubmittersRCV000254886 RCV001004321 RCV001063888 RCV001376587 RCV001260325 RCV002252071 RCV003475860 RCV001814132
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 SubmittersRCV000283658 RCV000764728 RCV001275210
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 SubmittersRCV000304199 RCV000311034 RCV001240601 RCV003930068
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 SubmittersRCV000350916 RCV001277300 RCV003165737 RCV002480020
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 SubmittersRCV000306324 RCV000889675 RCV001355075 RCV001420972 RCV004955376 RCV003977775
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 SubmittersRCV000271066 RCV001507194 RCV003940002 RCV000543039 RCV003437049
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 SubmittersRCV000268203 RCV001080221 RCV001277309 RCV001336887 RCV004816504
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 SubmittersRCV000379864 RCV001087631 RCV003920137
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 SubmittersRCV000298949 RCV000345924 RCV000766589 RCV001277301 RCV003977800
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 SubmittersRCV000325375 RCV001458350 RCV002518035
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 SubmittersRCV000271696 RCV000351986 RCV001450061 RCV002521991 RCV003957498 RCV005355607
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 SubmittersRCV000301612 RCV000764729 RCV001855212
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 SubmittersRCV000332762 RCV001240865 RCV002480047 RCV004752832 RCV004021294
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 SubmittersRCV000296594 RCV001085224 RCV001507170 RCV005407028
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 SubmittersRCV000333673 RCV001086316 RCV001450071 RCV001700030 RCV003930197
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 SubmittersRCV000342533 RCV000729186 RCV002519510 RCV004752880
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 SubmittersRCV000396766 RCV000729990 RCV001861309
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 SubmittersRCV000285353 RCV000733368 RCV001507178 RCV001262592 RCV003902401
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 SubmittersRCV000396793 RCV002058679
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 SubmittersRCV000306024 RCV002058680
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 SubmittersRCV000374492 RCV003758756
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 SubmittersRCV000348562 RCV003932488 RCV000598077 RCV001507172
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 SubmittersRCV000728937 RCV000405009 RCV001277057 RCV003970059
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 SubmittersRCV000409527 RCV000411053 RCV000598875 RCV001865276 RCV003475977 RCV004577330
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 SubmittersRCV000409825 RCV000411784
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 SubmittersRCV000409017 RCV000411432 RCV001376544 RCV000599082 RCV003409567 RCV003475988
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 SubmittersRCV000410270 RCV000412213 RCV001379134 RCV003475992
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 SubmittersRCV000410455 RCV000411996 RCV001004319 RCV001201668 RCV003319350 RCV003475982
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 SubmittersRCV000409416 RCV000411881 RCV001004320 RCV001213658 RCV003475984 RCV005033923
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 SubmittersRCV000409499 RCV000411020
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 SubmittersRCV000410160 RCV000412134 RCV002523885 RCV003475978
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 SubmittersRCV000410165 RCV000412147
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 SubmittersRCV000409232 RCV000411702
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 SubmittersRCV000410364 RCV000411848 RCV003475985 RCV002523887
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 SubmittersRCV000409269 RCV000411209 RCV002523889
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 SubmittersRCV000409309 RCV000411742 RCV001212702 RCV003475979
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 SubmittersRCV000410009 RCV000412445 RCV002523884 RCV003475975
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 SubmittersRCV000409397 RCV000780585 RCV001376604 RCV000411910 RCV002488843 RCV003475991 RCV005425947
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 SubmittersRCV000409170 RCV000410312 RCV001004523 RCV001861401 RCV004567892 RCV002502434
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 SubmittersRCV000409764 RCV000410357
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 SubmittersRCV000409324 RCV000411341
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 SubmittersRCV000411284 RCV000412347
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 SubmittersRCV000410653 RCV000411721 RCV002230732 RCV005044618
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 SubmittersRCV001174676 RCV001232745 RCV000410262 RCV000412294 RCV001250203 RCV005033925
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 SubmittersRCV000409502 RCV000411873 RCV000598681 RCV001384497 RCV005033924
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 SubmittersRCV000730939 RCV001162173 RCV001277308
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 SubmittersRCV000584993 RCV000591691 RCV000660395 RCV001391319 RCV001578749 RCV001083497 RCV003925755
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 SubmittersRCV000590014 RCV000818703 RCV000984292 RCV000984291 RCV002232225 RCV001783092 RCV005392144
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 SubmittersRCV001203812 RCV000596374 RCV004955684
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 SubmittersRCV001442207 RCV000591443
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 SubmittersRCV000593815 RCV001086000 RCV001277307 RCV003927907
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 SubmittersRCV000592002 RCV001275212 RCV003905523
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 SubmittersRCV000598166 RCV004752960 RCV002531017
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 SubmittersRCV000594853 RCV001277306
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 SubmittersRCV000597227 RCV003758872
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 SubmittersRCV000598310 RCV001277050
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 SubmittersRCV001277311 RCV000598186
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 SubmittersRCV001398051 RCV003905554 RCV000596039
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 SubmittersRCV000595661 RCV002532668
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 SubmittersRCV000597351 RCV002476342 RCV002532681 RCV002272300
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 SubmittersRCV000596765 RCV001277051 RCV003945450
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 SubmittersRCV000660614 RCV001451234 RCV005407851
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 SubmittersRCV000668226 RCV003338727 RCV005046878
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 SubmittersRCV000674474 RCV001377626 RCV002499189 RCV003472170
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 SubmittersRCV000674254 RCV001201378 RCV003472166 RCV005034275
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 SubmittersRCV000669293 RCV000729582 RCV001332474 RCV002531221 RCV003472113
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 SubmittersRCV000666769 RCV001004316 RCV001377622 RCV003472081
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 SubmittersRCV000668286 RCV002530739 RCV003472097
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 SubmittersRCV000668401 RCV003594017
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 SubmittersRCV000665705 RCV001193608 RCV001868206 RCV003420172 RCV003472072
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 SubmittersRCV000667385 RCV001091386 RCV003767954
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 SubmittersRCV000672142 RCV001242973 RCV001662740 RCV003472144
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 SubmittersRCV000664531 RCV003594015 RCV003472062
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 SubmittersRCV000665963 RCV001229220
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 SubmittersRCV000670124 RCV002477500 RCV001855537 RCV004568536
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 SubmittersRCV000680063 RCV001384961 RCV003472182
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 SubmittersRCV000704649 RCV001580539 RCV004796289 RCV003472246
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 SubmittersRCV000728121 RCV001363390 RCV004958062
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 SubmittersRCV000728637 RCV005046985
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 SubmittersRCV000729209 RCV001868939
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 SubmittersRCV000729269 RCV002535112
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 SubmittersRCV000730111 RCV001082990 RCV001275213 RCV001816798 RCV003953310
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 SubmittersRCV000730317 RCV001855635
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 SubmittersRCV000730318 RCV002536443
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 SubmittersRCV000730319 RCV001448407 RCV003983187
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 SubmittersRCV000731755 RCV001164201 RCV001454268
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 SubmittersRCV000732143 RCV001193611 RCV001504524 RCV003965534
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 SubmittersRCV000732191 RCV001087466
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 SubmittersRCV000733464 RCV001277313
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 SubmittersRCV000734198 RCV001478727 RCV005436041
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 SubmittersRCV000798670 RCV000780584 RCV003472313
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 SubmittersRCV000780587 RCV001377624 RCV001570534
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 SubmittersRCV001091385 RCV001796215 RCV005614447
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 SubmittersRCV001277305 RCV002540751
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 SubmittersRCV000904646 RCV001277316 RCV001578708 RCV001578707 RCV001729741 RCV003958200
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 SubmittersRCV001162273 RCV001500195
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 SubmittersRCV001030786 RCV001004522 RCV001869414 RCV001784534
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 SubmittersRCV001004525 RCV001378209 RCV002290989 RCV004569849
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 SubmittersRCV001030044 RCV002552037
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 SubmittersRCV001832483 RCV003480928 RCV004753183
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 SubmittersRCV001833649 RCV004960426
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 SubmittersRCV001159089 RCV001476481 RCV003908411
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 SubmittersRCV001160447 RCV001419799
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 SubmittersRCV001162081 RCV001423195
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 SubmittersRCV001160446 RCV002070981
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 SubmittersRCV001164104 RCV001394600
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 SubmittersRCV001160558 RCV002483910 RCV003759000
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 SubmittersRCV001160559 RCV002070986
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 SubmittersRCV001162172 RCV002071012
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 SubmittersRCV001193609 RCV001377623 RCV003313184 RCV003473732
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 SubmittersRCV001206563 RCV004570441 RCV003983849
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 SubmittersRCV001247525 RCV001250066 RCV003481031 RCV004034895 RCV003393917
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 SubmittersRCV001237503 RCV004727025
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 SubmittersRCV001296754 RCV003898288 RCV005394910
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 SubmittersRCV001324387 RCV001760414
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 SubmittersRCV001316857 RCV003898302 RCV005394937
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 SubmittersRCV001339992 RCV002476567
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 SubmittersRCV001377621 RCV003473904
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 SubmittersRCV001382765 RCV003473940
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 SubmittersRCV001380782 RCV003473928 RCV003984857
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 SubmittersRCV001420907 RCV001859336
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 SubmittersRCV001496742 RCV001578741 RCV001578742 RCV001578740
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 SubmittersRCV001580756 RCV003474010
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 SubmittersRCV001756553 RCV003474019
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 SubmittersRCV001752339 RCV005095010
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 SubmittersRCV001782596 RCV001885188
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 SubmittersRCV001979003 RCV004753446 RCV005382296
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 SubmittersRCV001999185 RCV002486589 RCV003475275
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 SubmittersRCV001946843 RCV003475231
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 SubmittersRCV001909016 RCV003475157
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 SubmittersRCV001984463 RCV003407977 RCV004770292 RCV005382291
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 SubmittersRCV002293378 RCV005239355
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 SubmittersRCV002310100 RCV005032237
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 SubmittersRCV002310139 RCV005042801 RCV003475336 RCV003594184
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 SubmittersRCV003072731 RCV003085908
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 SubmittersRCV002586445 RCV003475396
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 SubmittersRCV002583240 RCV003475395
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 SubmittersRCV004571247 RCV005034411 RCV002794871
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 SubmittersRCV002996430 RCV003475459
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 SubmittersRCV003010320 RCV005034580
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 SubmittersRCV003030631 RCV003475474
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 SubmittersRCV003044847 RCV003475482
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 SubmittersRCV003476744 RCV003759875 RCV005047599
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 SubmittersRCV003476751 RCV003759876
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 SubmittersRCV003476779 RCV003594694
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 SubmittersRCV003480437 RCV005100305
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 SubmittersRCV003760871 RCV005047742
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

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 SubmittersRCV000007946 RCV000022416 RCV000032927 RCV000078922 RCV000345695 RCV000661947 RCV000763596 RCV000791271 RCV001004322 RCV001074120 RCV001266794 RCV001376560 RCV001731280 RCV003398462 RCV004786245

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 SubmittersRCV000007949 RCV001248383 RCV003473054 RCV003480024 RCV000763597

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 SubmittersRCV000078919 RCV000672527 RCV001854392 RCV003474678

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 SubmittersRCV000078921 RCV000356824 RCV001507118 RCV000859827

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 SubmittersRCV000078924 RCV000368382 RCV001277303 RCV001252811 RCV003935024 RCV004791262

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 SubmittersRCV000078927 RCV000358779 RCV001200182 RCV001507135

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 SubmittersRCV000078930 RCV001246411

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 SubmittersRCV000153672 RCV000298239 RCV001240934 RCV001328780 RCV001824124 RCV002516087

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 SubmittersRCV000169385 RCV001250202 RCV001215871 RCV002307427 RCV002291587 RCV003474911 RCV005031695

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 SubmittersRCV000599041 RCV002228604 RCV001332473 RCV003474896 RCV002516527 RCV004555855 RCV001194281 RCV001810430

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 SubmittersRCV000169227 RCV000657614 RCV001004323 RCV001220088 RCV002265653 RCV003474901 RCV005031692

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 SubmittersRCV000169518 RCV003593925

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 SubmittersRCV000171529 RCV002515240

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 SubmittersRCV000175014 RCV001079967 RCV003937570

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 SubmittersRCV000175612 RCV000267284 RCV001277317

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 SubmittersRCV000178106 RCV001411798 RCV003955062

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 SubmittersRCV000178773 RCV000764731 RCV002516781

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 SubmittersRCV000178774 RCV000906584 RCV001507201

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 SubmittersRCV000178775 RCV001081673

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 SubmittersRCV000201290 RCV001075286 RCV001810437 RCV003417729 RCV004701263 RCV002517304

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 SubmittersRCV000201302 RCV001377625 RCV001075087 RCV002500626

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 SubmittersRCV000201308 RCV000633316 RCV001004518 RCV001376605 RCV001526999 RCV001795328 RCV003422106 RCV005031756

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 SubmittersRCV000240787 RCV001004317 RCV002229187 RCV002251446 RCV002515571 RCV005042454 RCV003226251

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 SubmittersRCV000239086 RCV000886828 RCV001507190 RCV003939908

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 SubmittersRCV000254886 RCV001004321 RCV001063888 RCV001376587 RCV001260325 RCV002252071 RCV003475860 RCV001814132

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 SubmittersRCV000283658 RCV000764728 RCV001275210

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 SubmittersRCV000304199 RCV000311034 RCV001240601 RCV003930068

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 SubmittersRCV000350916 RCV001277300 RCV003165737 RCV002480020

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 SubmittersRCV000306324 RCV000889675 RCV001355075 RCV001420972 RCV004955376 RCV003977775

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 SubmittersRCV000271066 RCV001507194 RCV003940002 RCV000543039 RCV003437049

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 SubmittersRCV000268203 RCV001080221 RCV001277309 RCV001336887 RCV004816504

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 SubmittersRCV000379864 RCV001087631 RCV003920137

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 SubmittersRCV000298949 RCV000345924 RCV000766589 RCV001277301 RCV003977800

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 SubmittersRCV000325375 RCV001458350 RCV002518035

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 SubmittersRCV000271696 RCV000351986 RCV001450061 RCV002521991 RCV003957498 RCV005355607

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 SubmittersRCV000301612 RCV000764729 RCV001855212

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 SubmittersRCV000332762 RCV001240865 RCV002480047 RCV004752832 RCV004021294

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 SubmittersRCV000296594 RCV001085224 RCV001507170 RCV005407028

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 SubmittersRCV000333673 RCV001086316 RCV001450071 RCV001700030 RCV003930197

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 SubmittersRCV000342533 RCV000729186 RCV002519510 RCV004752880

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 SubmittersRCV000396766 RCV000729990 RCV001861309

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 SubmittersRCV000285353 RCV000733368 RCV001507178 RCV001262592 RCV003902401

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 SubmittersRCV000396793 RCV002058679

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 SubmittersRCV000306024 RCV002058680

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 SubmittersRCV000374492 RCV003758756

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 SubmittersRCV000348562 RCV003932488 RCV000598077 RCV001507172

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 SubmittersRCV000728937 RCV000405009 RCV001277057 RCV003970059

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 SubmittersRCV000409527 RCV000411053 RCV000598875 RCV001865276 RCV003475977 RCV004577330

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 SubmittersRCV000409825 RCV000411784

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 SubmittersRCV000409017 RCV000411432 RCV001376544 RCV000599082 RCV003409567 RCV003475988

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 SubmittersRCV000410270 RCV000412213 RCV001379134 RCV003475992

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 SubmittersRCV000410455 RCV000411996 RCV001004319 RCV001201668 RCV003319350 RCV003475982

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 SubmittersRCV000409416 RCV000411881 RCV001004320 RCV001213658 RCV003475984 RCV005033923

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 SubmittersRCV000409499 RCV000411020

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 SubmittersRCV000410160 RCV000412134 RCV002523885 RCV003475978

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 SubmittersRCV000410165 RCV000412147

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 SubmittersRCV000409232 RCV000411702

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 SubmittersRCV000410364 RCV000411848 RCV003475985 RCV002523887

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 SubmittersRCV000409269 RCV000411209 RCV002523889

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 SubmittersRCV000409309 RCV000411742 RCV001212702 RCV003475979

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 SubmittersRCV000410009 RCV000412445 RCV002523884 RCV003475975

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 SubmittersRCV000409397 RCV000780585 RCV001376604 RCV000411910 RCV002488843 RCV003475991 RCV005425947

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 SubmittersRCV000409170 RCV000410312 RCV001004523 RCV001861401 RCV004567892 RCV002502434

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 SubmittersRCV000409764 RCV000410357

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 SubmittersRCV000409324 RCV000411341

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 SubmittersRCV000411284 RCV000412347

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 SubmittersRCV000410653 RCV000411721 RCV002230732 RCV005044618

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 SubmittersRCV001174676 RCV001232745 RCV000410262 RCV000412294 RCV001250203 RCV005033925

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 SubmittersRCV000409502 RCV000411873 RCV000598681 RCV001384497 RCV005033924

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 SubmittersRCV000730939 RCV001162173 RCV001277308

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 SubmittersRCV000584993 RCV000591691 RCV000660395 RCV001391319 RCV001578749 RCV001083497 RCV003925755

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 SubmittersRCV000590014 RCV000818703 RCV000984292 RCV000984291 RCV002232225 RCV001783092 RCV005392144

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 SubmittersRCV001203812 RCV000596374 RCV004955684

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 SubmittersRCV001442207 RCV000591443

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 SubmittersRCV000593815 RCV001086000 RCV001277307 RCV003927907

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 SubmittersRCV000592002 RCV001275212 RCV003905523

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 SubmittersRCV000598166 RCV004752960 RCV002531017

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 SubmittersRCV000594853 RCV001277306

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 SubmittersRCV000597227 RCV003758872

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 SubmittersRCV000598310 RCV001277050

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 SubmittersRCV001277311 RCV000598186

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 SubmittersRCV001398051 RCV003905554 RCV000596039

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 SubmittersRCV000595661 RCV002532668

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 SubmittersRCV000597351 RCV002476342 RCV002532681 RCV002272300

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 SubmittersRCV000596765 RCV001277051 RCV003945450

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 SubmittersRCV000660614 RCV001451234 RCV005407851

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 SubmittersRCV000668226 RCV003338727 RCV005046878

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 SubmittersRCV000674474 RCV001377626 RCV002499189 RCV003472170

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 SubmittersRCV000674254 RCV001201378 RCV003472166 RCV005034275

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 SubmittersRCV000669293 RCV000729582 RCV001332474 RCV002531221 RCV003472113

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 SubmittersRCV000666769 RCV001004316 RCV001377622 RCV003472081

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 SubmittersRCV000668286 RCV002530739 RCV003472097

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 SubmittersRCV000668401 RCV003594017

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 SubmittersRCV000665705 RCV001193608 RCV001868206 RCV003420172 RCV003472072

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 SubmittersRCV000667385 RCV001091386 RCV003767954

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 SubmittersRCV000672142 RCV001242973 RCV001662740 RCV003472144

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 SubmittersRCV000664531 RCV003594015 RCV003472062

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 SubmittersRCV000665963 RCV001229220

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 SubmittersRCV000670124 RCV002477500 RCV001855537 RCV004568536

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 SubmittersRCV000680063 RCV001384961 RCV003472182

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 SubmittersRCV000704649 RCV001580539 RCV004796289 RCV003472246

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 SubmittersRCV000728121 RCV001363390 RCV004958062

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 SubmittersRCV000728637 RCV005046985

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 SubmittersRCV000729209 RCV001868939

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 SubmittersRCV000729269 RCV002535112

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 SubmittersRCV000730111 RCV001082990 RCV001275213 RCV001816798 RCV003953310

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 SubmittersRCV000730317 RCV001855635

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 SubmittersRCV000730318 RCV002536443

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 SubmittersRCV000730319 RCV001448407 RCV003983187

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 SubmittersRCV000731755 RCV001164201 RCV001454268

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 SubmittersRCV000732143 RCV001193611 RCV001504524 RCV003965534

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 SubmittersRCV000732191 RCV001087466

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 SubmittersRCV000733464 RCV001277313

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 SubmittersRCV000734198 RCV001478727 RCV005436041

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 SubmittersRCV000798670 RCV000780584 RCV003472313

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 SubmittersRCV000780587 RCV001377624 RCV001570534

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 SubmittersRCV001091385 RCV001796215 RCV005614447

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 SubmittersRCV001277305 RCV002540751

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 SubmittersRCV000904646 RCV001277316 RCV001578708 RCV001578707 RCV001729741 RCV003958200

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 SubmittersRCV001162273 RCV001500195

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 SubmittersRCV001030786 RCV001004522 RCV001869414 RCV001784534

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 SubmittersRCV001004525 RCV001378209 RCV002290989 RCV004569849

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 SubmittersRCV001030044 RCV002552037

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 SubmittersRCV001832483 RCV003480928 RCV004753183

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 SubmittersRCV001833649 RCV004960426

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 SubmittersRCV001159089 RCV001476481 RCV003908411

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 SubmittersRCV001160447 RCV001419799

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 SubmittersRCV001162081 RCV001423195

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 SubmittersRCV001160446 RCV002070981

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 SubmittersRCV001164104 RCV001394600

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 SubmittersRCV001160558 RCV002483910 RCV003759000

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 SubmittersRCV001160559 RCV002070986

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 SubmittersRCV001162172 RCV002071012

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 SubmittersRCV001193609 RCV001377623 RCV003313184 RCV003473732

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 SubmittersRCV001206563 RCV004570441 RCV003983849

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 SubmittersRCV001247525 RCV001250066 RCV003481031 RCV004034895 RCV003393917

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 SubmittersRCV001237503 RCV004727025

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 SubmittersRCV001296754 RCV003898288 RCV005394910

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 SubmittersRCV001324387 RCV001760414

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 SubmittersRCV001316857 RCV003898302 RCV005394937

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 SubmittersRCV001339992 RCV002476567

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 SubmittersRCV001377621 RCV003473904

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 SubmittersRCV001382765 RCV003473940

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 SubmittersRCV001380782 RCV003473928 RCV003984857

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 SubmittersRCV001420907 RCV001859336

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 SubmittersRCV001496742 RCV001578741 RCV001578742 RCV001578740

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 SubmittersRCV001580756 RCV003474010

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 SubmittersRCV001756553 RCV003474019

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 SubmittersRCV001752339 RCV005095010

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 SubmittersRCV001782596 RCV001885188

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 SubmittersRCV001979003 RCV004753446 RCV005382296

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 SubmittersRCV001999185 RCV002486589 RCV003475275

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 SubmittersRCV001946843 RCV003475231

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 SubmittersRCV001909016 RCV003475157

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 SubmittersRCV001984463 RCV003407977 RCV004770292 RCV005382291

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 SubmittersRCV002293378 RCV005239355

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 SubmittersRCV002310100 RCV005032237

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 SubmittersRCV002310139 RCV005042801 RCV003475336 RCV003594184

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 SubmittersRCV003072731 RCV003085908

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 SubmittersRCV002586445 RCV003475396

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 SubmittersRCV002583240 RCV003475395

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 SubmittersRCV004571247 RCV005034411 RCV002794871

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 SubmittersRCV002996430 RCV003475459

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 SubmittersRCV003010320 RCV005034580

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 SubmittersRCV003030631 RCV003475474

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 SubmittersRCV003044847 RCV003475482

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 SubmittersRCV003476744 RCV003759875 RCV005047599

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 SubmittersRCV003476751 RCV003759876

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 SubmittersRCV003476779 RCV003594694

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 SubmittersRCV003480437 RCV005100305

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 SubmittersRCV003760871 RCV005047742

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