Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002617.4(PEX10):c.600+1G>A	SNV Germline	Chr1:2408451	Pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6B Zellweger spectrum disorders Peroxisome biogenesis disorder Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B	Criteria Provided Multiple Submitters No Conflicts	CA118503	rs_267608183	8 SubmittersRCV000007172 RCV000519441 RCV000817369 RCV000983989 RCV001273137 RCV001174563 RCV002476939
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 Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisomal disorder Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B 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	40 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) Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254194	rs_121434455	7 SubmittersRCV000007949 RCV000763597 RCV001248383 RCV003473054 RCV003480024
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)	SNV Germline	Chr8:76983824	Pathogenic	Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Condition: not provided PEX2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123377	rs_61752123	11 SubmittersRCV000014703 RCV000032924 RCV000589554 RCV001275872 RCV002496363 RCV002223176 RCV004748521
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)	SNV Germline	Chr8:76984088	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders Condition: not provided PEX2-related disorder	Criteria Provided Conflicting Classifications	CA220659	rs_149287302	11 SubmittersRCV000078632 RCV000660597 RCV000967707 RCV001276118 RCV001546509 RCV003905040
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)	SNV Germline	Chr7:92502076	Pathogenic/Likely 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) Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA146658	rs_145430946	8 SubmittersRCV000078921 RCV000356824 RCV000859827 RCV001507118
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) Zellweger spectrum disorders Condition: not provided	Criteria Provided Conflicting Classifications	CA146663	rs_71560821	7 SubmittersRCV000078927 RCV000358779 RCV001507135 RCV001200182
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_000318.3(PEX2):c.748T>C (p.Trp250Arg)	SNV Germline	Chr8:76983431	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA154235	rs_142645936	13 SubmittersRCV000117903 RCV000262649 RCV000435678 RCV001082068 RCV001578657 RCV001835683
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)	SNV Germline	Chr1:2406766	Pathogenic	Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA175042	rs_61752092	6 SubmittersRCV000149813 RCV001208724 RCV001831930 RCV000666851 RCV000677268 RCV001844050
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_000287.4(PEX6):c.1677C>A (p.Asp559Glu)	SNV Germline	Chr6:42968301	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders PEX6-related disorder	Criteria Provided Conflicting Classifications	CA234544	rs_61732159	5 SubmittersRCV000153691 RCV001083949 RCV001831958 RCV004551326
NM_000466.3(PEX1):c.2926+2T>C	SNV Germline	Chr7:92494485	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder type 1A Condition: not provided Peroxisome biogenesis disorder Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA274236	rs_267608180	6 SubmittersRCV000169385 RCV001215871 RCV001250202 RCV002291587 RCV002307427 RCV003474911
NM_000466.3(PEX1):c.2926+1G>A	SNV Germline	Chr7:92494486	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Inborn genetic diseases Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA273894	rs_267608179	8 SubmittersRCV000599041 RCV001194281 RCV001332473 RCV001810430 RCV002228604 RCV002516527 RCV003474896 RCV004555855
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	Criteria Provided Multiple Submitters No Conflicts	CA274065	rs_61750418	7 SubmittersRCV000169227 RCV000657614 RCV001004323 RCV001220088 RCV002265653 RCV003474901
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)	SNV Germline	Chr7:92528433	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA274384	rs_786204704	2 SubmittersRCV000169518 RCV003593925
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_000287.4(PEX6):c.2183C>T (p.Pro728Leu)	SNV Germline	Chr6:42966359	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders Inborn genetic diseases PEX6-related disorder	Criteria Provided Conflicting Classifications	CA239465	rs_142899308	6 SubmittersRCV000173992 RCV000404054 RCV001083109 RCV001276732 RCV002517668 RCV004552959
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)	SNV Germline	Chr6:42965712	Pathogenic	Peroxisome biogenesis disorder Condition: not provided Peroxisome biogenesis disorder 4B Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Zellweger spectrum disorders Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA201002	rs_267608241	8 SubmittersRCV000802432 RCV000657597 RCV000667668 RCV000763145 RCV001826877 RCV003474926
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_002617.4(PEX10):c.712G>C (p.Gly238Arg)	SNV Germline	Chr1:2406784	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger) PEX10-related disorder Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B	Criteria Provided Conflicting Classifications	CA245491	rs_61736380	8 SubmittersRCV000178398 RCV001034401 RCV001272159 RCV001097563 RCV003977464 RCV000763844
NM_002617.4(PEX10):c.611G>A (p.Arg204His)	SNV Germline	Chr1:2406885	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders PEX10-related disorder	Criteria Provided Conflicting Classifications	CA245493	rs_199934621	5 SubmittersRCV000178399 RCV000315166 RCV001086346 RCV001272161 RCV003907615
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_000287.4(PEX6):c.821C>T (p.Pro274Leu)	SNV Germline	Chr6:42978330	Pathogenic/Likely pathogenic	Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Inborn genetic diseases Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger) Condition: not provided PEX6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210642	rs_61753219	11 SubmittersRCV000201297 RCV000666553 RCV000622824 RCV000735222 RCV001193476 RCV001276623 RCV001808558 RCV002243878 RCV004737319
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)	SNV Germline	Chr7:92503153	Conflicting classifications of pathogenicity	Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders PEX1-related disorder Retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA279184	rs_863225084	6 SubmittersRCV000201290 RCV001810437 RCV002517304 RCV003417729 RCV001075286 RCV004701263
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	SNV Germline	Chr7:92507055	Pathogenic/Likely pathogenic	Heimler syndrome 1 Retinal dystrophy Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA210119	rs_370483961	6 SubmittersRCV000201302 RCV001075087 RCV001377625 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	Criteria Provided Multiple Submitters No Conflicts	CA210121	rs_756876301	8 SubmittersRCV000201308 RCV000633316 RCV001004518 RCV001376605 RCV001526999 RCV001795328 RCV003422106
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	SNV Germline	Chr7:92494357	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Inborn genetic diseases Heimler syndrome 1 Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA4340947	rs_61750427	6 SubmittersRCV002229187 RCV002251446 RCV001004317 RCV002515571 RCV000240787 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 Abnormality of metabolism/homeostasis Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1A (Zellweger) See cases Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4341072	rs_61750422	11 SubmittersRCV000254886 RCV001260325 RCV001814132 RCV001004321 RCV001063888 RCV002252071 RCV001376587 RCV003475860
NM_002617.4(PEX10):c.1A>G (p.Met1Val)	SNV Germline	Chr1:2412502	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA10602763	rs_886041314	5 SubmittersRCV000341916 RCV001385998 RCV001828171 RCV000666568 RCV004567820
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)	SNV Germline	Chr1:2406561	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA10604149	rs_62641225	5 SubmittersRCV000289565 RCV001381855 RCV003155147 RCV001833319 RCV003475892
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) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340805	rs_182452430	6 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_002617.4(PEX10):c.896C>T (p.Ala299Val)	SNV Germline	Chr1:2406500	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders PEX10-related disorder	Criteria Provided Conflicting Classifications	CA537986	rs_78620392	6 SubmittersRCV000403122 RCV000398333 RCV001086392 RCV001272149 RCV003930089
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)	SNV Germline	Chr7:92493054	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4340902	rs_754130942	6 SubmittersRCV000350916 RCV002480020 RCV001277300 RCV003165737
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 PEX1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4341565	rs_141798874	10 SubmittersRCV000306324 RCV000889675 RCV001355075 RCV001420972 RCV003977775 RCV004955376
NM_000466.3(PEX1):c.468A>G (p.Gln156=)	SNV Germline	Chr7:92518145	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders PEX1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4341604	rs_149729088	6 SubmittersRCV000271066 RCV000543039 RCV001507194 RCV003940002 RCV003437049
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)	SNV Germline	Chr6:42978298	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 4A (Zellweger) Zellweger spectrum disorders Condition: not provided Peroxisome biogenesis disorder PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811549	rs_61753220	8 SubmittersRCV000344101 RCV000387310 RCV001276622 RCV002225576 RCV000709968 RCV004547701
NM_000466.3(PEX1):c.1360-7C>T	SNV Germline	Chr7:92511710	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Retinal dystrophy Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341414	rs_371890000	6 SubmittersRCV000268203 RCV001080221 RCV001336887 RCV004816504 RCV001277309
NM_002617.4(PEX10):c.915G>A (p.Ala305=)	SNV Germline	Chr1:2405832	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA537953	rs_374891812	4 SubmittersRCV000393024 RCV001082724 RCV001101219 RCV001277100
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	Criteria Provided Conflicting Classifications	CA4341413	rs_199716270	5 SubmittersRCV000271696 RCV000351986 RCV001450061 RCV002521991 RCV003957498
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)	SNV Germline	Chr7:92496746	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	CA4341025	rs_371327573	4 SubmittersRCV000301612 RCV000764729 RCV001855212
NM_002617.4(PEX10):c.816G>T (p.Leu272=)	SNV Germline	Chr1:2406580	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA538006	rs_144440263	4 SubmittersRCV000264178 RCV001087950 RCV001097466 RCV001833392
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 Inborn genetic diseases PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340908	rs_185181696	7 SubmittersRCV000332762 RCV001240865 RCV002480047 RCV004021294 RCV004752832
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)	SNV Germline	Chr6:42964896	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3810929	rs_533766104	5 SubmittersRCV000345818 RCV000407237 RCV001087849 RCV001833397 RCV004549619
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)	SNV Germline	Chr8:76983384	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 5A (Zellweger)	Criteria Provided Conflicting Classifications	CA4788653	rs_764785488	3 SubmittersRCV000405154 RCV001275869 RCV001078844
NM_000466.3(PEX1):c.939T>C (p.His313=)	SNV Germline	Chr7:92517576	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Conflicting Classifications	CA4341515	rs_199647157	4 SubmittersRCV000296594 RCV001507170 RCV001085224
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_002617.4(PEX10):c.316C>T (p.Leu106=)	SNV Germline	Chr1:2408736	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders PEX10-related disorder	Criteria Provided Conflicting Classifications	CA538213	rs_140340426	5 SubmittersRCV000269378 RCV000730829 RCV001083113 RCV001272169 RCV003957548
NM_002617.4(PEX10):c.555C>T (p.His185=)	SNV Germline	Chr1:2408497	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA538137	rs_75377471	4 SubmittersRCV000275159 RCV000731758 RCV001087429 RCV001272165
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)	SNV Germline	Chr1:2408634	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Inborn genetic diseases PEX10-related disorder	Criteria Provided Conflicting Classifications	CA538184	rs_76530653	9 SubmittersRCV000309150 RCV000676044 RCV001037362 RCV001272167 RCV002480074 RCV002520466 RCV003957547
NM_002617.4(PEX10):c.280G>A (p.Val94Met)	SNV Germline	Chr1:2408772	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA538226	rs_142626035	3 SubmittersRCV000378821 RCV000922425 RCV001835774
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) Zellweger spectrum disorders Condition: not provided	Criteria Provided Conflicting Classifications	CA4340893	rs_776231556	3 SubmittersRCV000396766 RCV001861309 RCV000729990
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 Heimler syndrome 1 Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340845	rs_142994610	8 SubmittersRCV000285353 RCV000733368 RCV001262592 RCV001507178 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_000287.4(PEX6):c.2907G>C (p.Arg969=)	SNV Germline	Chr6:42964371	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA3810866	rs_145243129	3 SubmittersRCV000279268 RCV000966458 RCV001276729
NM_000287.4(PEX6):c.2736G>A (p.Ala912=)	SNV Germline	Chr6:42964860	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA3810919	rs_202049230	4 SubmittersRCV000349557 RCV000728934 RCV001083938 RCV001276730
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) Condition: not provided Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341401	rs_139919229	5 SubmittersRCV000348562 RCV000598077 RCV001507172 RCV003932488
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)	SNV Germline	Chr7:92511683	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341409	rs_565049190	5 SubmittersRCV000405009 RCV000728937 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.3208-1G>A	SNV Germline	Chr7:92491503	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders PEX1-related disorder Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041146	rs_1057517518	7 SubmittersRCV000409017 RCV000411432 RCV000599082 RCV001376544 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/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B 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 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041152	rs_1057517485	3 SubmittersRCV000409416 RCV000411881 RCV001004320 RCV001213658 RCV003475984
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.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) Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA4341376	rs_754983126	3 SubmittersRCV000410009 RCV000412445 RCV003475975 RCV002523884
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)	SNV Germline	Chr7:92517968	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4341576	rs_149806989	5 SubmittersRCV000409397 RCV000411910 RCV000780585 RCV001376604 RCV002488843 RCV003475991
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 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041173	rs_1057517479	4 SubmittersRCV000409170 RCV000410312 RCV001004523 RCV001861401 RCV002502434 RCV004567892
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	Criteria Provided Multiple Submitters No Conflicts	CA16041177	rs_766020928	2 SubmittersRCV000410653 RCV000411721 RCV002230732
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:92528434	Pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder type 1A	Criteria Provided Multiple Submitters No Conflicts	CA4341711	rs_766020928	6 SubmittersRCV000410262 RCV000412294 RCV001174676 RCV001232745 RCV001250203
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	Criteria Provided Multiple Submitters No Conflicts	CA16041178	rs_1057517501	3 SubmittersRCV000409502 RCV000411873 RCV000598681 RCV001384497
NM_000466.3(PEX1):c.1587+5T>C	SNV Germline	Chr7:92510939	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Conflicting Classifications	CA4341370	rs_199526105	6 SubmittersRCV000730939 RCV001277308 RCV001162173
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 Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341372	rs_144942544	15 SubmittersRCV000584993 RCV000591691 RCV000660395 RCV001083497 RCV001391319 RCV001578749 RCV003925755
NM_000287.4(PEX6):c.1233+1G>A	SNV Germline	Chr6:42969884	Likely pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA3811407	rs_763459576	4 SubmittersRCV000588951 RCV001834834 RCV003471937
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	SNV Germline	Chr7:92494331	Pathogenic/Likely pathogenic	Heimler syndrome 1 Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA4340941	rs_61750428	5 SubmittersRCV000984291 RCV001783092 RCV000590014 RCV000818703 RCV000984292 RCV002232225
NM_002617.4(PEX10):c.268C>T (p.Leu90=)	SNV Germline	Chr1:2408784	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA538231	rs_775772867	4 SubmittersRCV000593622 RCV001087511 RCV001095873 RCV001829641
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)	SNV Germline	Chr7:92504758	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4341232	rs_145350631	5 SubmittersRCV000596374 RCV001203812 RCV004955684
NM_000466.3(PEX1):c.2509C>T (p.Leu837=)	SNV Germline	Chr7:92501581	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341106	rs_371701421	2 SubmittersRCV000591443 RCV001442207
NM_000318.3(PEX2):c.825C>T (p.Asp275=)	SNV Germline	Chr8:76983354	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders PEX2-related disorder	Criteria Provided Conflicting Classifications	CA4788647	rs_367649632	4 SubmittersRCV000593351 RCV001080311 RCV001279838 RCV003925778
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_002617.4(PEX10):c.765G>A (p.Leu255=)	SNV Germline	Chr1:2406731	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA538043	rs_140133667	3 SubmittersRCV000596202 RCV001079384 RCV001272158
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_002617.4(PEX10):c.601-27A>G	SNV Germline	Chr1:2406922	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders PEX10-related disorder	Criteria Provided Conflicting Classifications	CA538102	rs_144264865	5 SubmittersRCV000596139 RCV001099326 RCV001086559 RCV001272164 RCV003935614
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)	SNV Germline	Chr7:92513923	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341444	rs_145153467	4 SubmittersRCV000598186 RCV001277311
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)	SNV Germline	Chr6:42967495	Conflicting classifications of pathogenicity	Condition: not provided Heimler syndrome 2 Peroxisome biogenesis disorder Zellweger spectrum disorders Inborn genetic diseases PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811225	rs_146416679	8 SubmittersRCV000597689 RCV001333352 RCV001049098 RCV001834899 RCV004659122 RCV004553332
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp)	SNV Germline	Chr6:42966541	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA3811137	rs_748535121	3 SubmittersRCV000596492 RCV001051856 RCV001834900
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)	SNV Germline	Chr7:92489717	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340786	rs_753334806	4 SubmittersRCV000596039 RCV001398051 RCV003905554
NM_000287.4(PEX6):c.25C>T (p.Leu9=)	SNV Germline	Chr6:42979126	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger)	Criteria Provided Conflicting Classifications	CA3811650	rs_183449855	4 SubmittersRCV001276742 RCV000593272 RCV001086149 RCV001158852
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 due to PEX1 defect Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340856	rs_753699011	4 SubmittersRCV000597351 RCV002272300 RCV002476342 RCV002532681
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_000287.4(PEX6):c.1670A>G (p.Asn557Ser)	SNV Germline	Chr6:42968308	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder Zellweger spectrum disorders Condition: not provided Peroxisome biogenesis disorder 4A (Zellweger) PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811267	rs_138621982	6 SubmittersRCV001068866 RCV001829689 RCV000592165 RCV001163662 RCV004553344
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 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Conflicting Classifications		rs_553001596	2 SubmittersRCV000660614 RCV001451234
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)	SNV Germline	Chr6:42965115	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Heimler syndrome 2 PEX6-related disorder	Criteria Provided Conflicting Classifications		rs_267608246	9 SubmittersRCV000666171 RCV001198918 RCV001242506 RCV001835075 RCV002477483 RCV003472077 RCV004547836
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)	SNV Germline	Chr6:42978663	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders Inborn genetic diseases Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	Criteria Provided Conflicting Classifications		rs_778791031	7 SubmittersRCV000664899 RCV000731346 RCV001247917 RCV001835068 RCV002530640 RCV002485520
NM_000287.4(PEX6):c.2362+1G>A	SNV Germline	Chr6:42966043	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Zellweger spectrum disorders Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts		rs_1443107232	4 SubmittersRCV000666129 RCV001043607 RCV001276614 RCV003472076
NM_000466.3(PEX1):c.273+1G>A	SNV Germline	Chr7:92522101	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554376597	5 SubmittersRCV000674474 RCV001377626 RCV002499189 RCV003472170
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)	SNV Germline	Chr7:92528431	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_762679408	4 SubmittersRCV000674254 RCV001201378 RCV003472166
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		rs_954814470	5 SubmittersRCV000669293 RCV000729582 RCV001332474 RCV002531221 RCV003472113
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	SNV Germline	Chr7:92493122	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Conflicting Classifications		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		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 Multiple Submitters No Conflicts		rs_1478905473	2 SubmittersRCV000668401 RCV003594017
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)	SNV Germline	Chr7:92506251	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders Heimler syndrome 1 PEX1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_61750409	5 SubmittersRCV000665705 RCV001193608 RCV001868206 RCV003472072 RCV003420172
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)	SNV Germline	Chr7:92528435	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts		rs_1057517501	3 SubmittersRCV000667385 RCV001091386 RCV003767954
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	SNV Germline	Chr7:92494567	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts		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) Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts		rs_61750407	4 SubmittersRCV000664531 RCV003472062 RCV003594015
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)	SNV Germline	Chr7:92517946	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts		rs_1554375599	3 SubmittersRCV000665963 RCV001229220
NM_000466.3(PEX1):c.358-2A>C	SNV Germline	Chr7:92518257	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1057517500	4 SubmittersRCV000670124 RCV002477500 RCV001855537 RCV004568536
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	SNV Germline	Chr8:76983806	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder 5B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_61752124	9 SubmittersRCV000664468 RCV000780588 RCV001053880 RCV001275871 RCV002281578 RCV003231574
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		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		rs_866184460	5 SubmittersRCV000704649 RCV001580539 RCV004796289 RCV003472246
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)	SNV Germline	Chr6:42969725	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder Condition: not provided Zellweger spectrum disorders Heimler syndrome 2	Criteria Provided Conflicting Classifications		rs_771063294	5 SubmittersRCV000702969 RCV000728099 RCV001830552 RCV003472243
NM_000318.3(PEX2):c.447T>G (p.Gly149=)	SNV Germline	Chr8:76983732	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications		rs_375401977	4 SubmittersRCV000728093 RCV001086562 RCV001276114
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		rs_138905930	4 SubmittersRCV000728121 RCV001363390 RCV004958062
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		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		rs_140963147	7 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		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		rs_113162185	2 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		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		rs_371309198	3 SubmittersRCV000731755 RCV001164201 RCV001454268
NM_000287.4(PEX6):c.106C>T (p.Leu36=)	SNV Germline	Chr6:42979045	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications		rs_758416830	3 SubmittersRCV000732014 RCV001452900 RCV001825469
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		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		rs_757668497	3 SubmittersRCV000732191 RCV001087466
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)	SNV Germline	Chr6:42967478	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger)	Criteria Provided Conflicting Classifications		rs_375288192	5 SubmittersRCV000732195 RCV001245942 RCV001830618 RCV003338774
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)	SNV Germline	Chr1:2408627	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_138843050	4 SubmittersRCV000732617 RCV001395788 RCV001825473 RCV002536485
NM_000287.4(PEX6):c.855C>A (p.Pro285=)	SNV Germline	Chr6:42978296	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder not specified Zellweger spectrum disorders	Criteria Provided Conflicting Classifications		rs_757897959	4 SubmittersRCV000732962 RCV001474745 RCV001731914 RCV001835944
NM_000466.3(PEX1):c.2646G>A (p.Pro882=)	SNV Germline	Chr7:92499776	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications		rs_775421085	2 SubmittersRCV000734198 RCV001478727
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	SNV Germline	Chr6:42967451	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Condition: not provided Zellweger spectrum disorders Heimler syndrome 2 Peroxisome biogenesis disorder PEX6-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_61753225	8 SubmittersRCV000779505 RCV001576829 RCV001825519 RCV003472310 RCV002535657 RCV004549856
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		rs_61750417	4 SubmittersRCV000798670 RCV000780584 RCV003472313
NM_000466.3(PEX1):c.1900+2T>C	SNV Germline	Chr7:92506246	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1562857198	3 SubmittersRCV001377624 RCV000780587 RCV001570534
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)	SNV Germline	Chr7:92517352	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter		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		rs_1585224312	2 SubmittersRCV001830708
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)	SNV Germline	Chr8:76983287	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder 5B PEX2-related disorder	Criteria Provided Conflicting Classifications		rs_544763390	4 SubmittersRCV000970645 RCV001276113 RCV001578803 RCV003905995
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		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 Condition: not provided Heimler syndrome 1 PEX1-related disorder	Criteria Provided Conflicting Classifications		rs_202230667	7 SubmittersRCV000904646 RCV001277316 RCV001578708 RCV001729741 RCV001578707 RCV003958200
NM_000287.4(PEX6):c.1365A>G (p.Pro455=)	SNV Germline	Chr6:42969670	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications		rs_759402659	3 SubmittersRCV001158733 RCV001466313 RCV001827014
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		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 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_201415996	5 SubmittersRCV001004522 RCV001030786 RCV001869414 RCV001784534
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		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		rs_1585244586	2 SubmittersRCV001030044 RCV002552037
NM_002617.4(PEX10):c.447G>A (p.Thr149=)	SNV Germline	Chr1:2408605	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Condition: not provided	Criteria Provided Conflicting Classifications		rs_759220912	3 SubmittersRCV001059447 RCV001832533 RCV004691327
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)	SNV Germline	Chr6:42964861	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger) See cases Heimler syndrome 2 Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 4A (Zellweger) Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts		rs_62641232	6 SubmittersRCV001049060 RCV001274622 RCV001823180 RCV003156137 RCV003473637 RCV002479299
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)	SNV Germline	Chr7:92502010	Conflicting classifications of pathogenicity	PEX1-related disorder Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications		rs_374010060	4 SubmittersRCV004753183 RCV003480928 RCV001832483
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter)	SNV Germline	Chr7:92506331	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter		rs_1792186595	1 SubmittersRCV001047697
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)	SNV Germline	Chr7:92507097	Conflicting classifications of pathogenicity	Inborn genetic diseases Zellweger spectrum disorders	Criteria Provided Conflicting Classifications		rs_199989676	3 SubmittersRCV004960426 RCV001833649
NM_000466.3(PEX1):c.1900+1G>A	SNV Germline	Chr7:92506247	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter		rs_770447891	1 SubmittersRCV001036555
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		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		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		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		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		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) Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Conflicting Classifications		rs_1792111444	3 SubmittersRCV001160558 RCV003759000 RCV002483910
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		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		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		rs_267608177	4 SubmittersRCV001193609 RCV001377623 RCV003313184 RCV003473732
NM_000287.4(PEX6):c.543G>A (p.Val181=)	SNV Germline	Chr6:42978608	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Peroxisome biogenesis disorder Condition: not provided PEX6-related disorder	Criteria Provided Conflicting Classifications		rs_368560418	4 SubmittersRCV001833933 RCV001223288 RCV003132291 RCV004738198
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		rs_1232449804	4 SubmittersRCV001206563 RCV004570441 RCV003983849
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)	SNV Germline	Chr6:42966627	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 4A (Zellweger) Heimler syndrome 2 Heimler syndrome 2	Criteria Provided Conflicting Classifications		rs_267608230	5 SubmittersRCV001248070 RCV001836248 RCV004697090 RCV002480855 RCV003473835
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)	SNV Germline	Chr6:42968413	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger)	Criteria Provided Conflicting Classifications		rs_374396138	3 SubmittersRCV001245249 RCV001829952 RCV002246231
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)	SNV Germline	Chr7:92503067	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B PEX1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_141510219	7 SubmittersRCV001247525 RCV001250066 RCV003393917 RCV003481031 RCV004034895
NM_000466.3(PEX1):c.3208-3T>C	SNV Germline	Chr7:92491505	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Conflicting Classifications		rs_763767937	3 SubmittersRCV001237503 RCV004727025
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)	SNV Germline	Chr6:42965261	Likely pathogenic	PEX6-related disorder Peroxisome biogenesis disorder Zellweger spectrum disorders Heimler syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_61753231	5 SubmittersRCV001265583 RCV001309121 RCV001830065 RCV003473843 RCV004699248
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val)	SNV Germline	Chr6:42965255	Pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Single Submitter		rs_764227040	2 SubmittersRCV001318814 RCV001830322
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)	SNV Germline	Chr7:92517794	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B	Criteria Provided Conflicting Classifications		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		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		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		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		rs_2116059303	1 SubmittersRCV001390901
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)	SNV Germline	Chr7:92493123	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1791439311	3 SubmittersRCV001380782 RCV003984857 RCV003473928
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter)	SNV Germline	Chr7:92511607	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter		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		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) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Conflicting Classifications		rs_1009877821	3 SubmittersRCV001496742 RCV001578741 RCV001578740 RCV001578742
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		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		rs_1792222710	1 SubmittersRCV001919330
NM_000466.3(PEX1):c.3438+1G>A	SNV Germline	Chr7:92491271	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter		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		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		rs_2116181877	1 SubmittersRCV001941647
NM_000466.3(PEX1):c.357+1G>T	SNV Germline	Chr7:92518994	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_866144313	3 SubmittersRCV002486589 RCV001999185 RCV003475275
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)	SNV Germline	Chr7:92503105	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter		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		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		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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_375045292	3 SubmittersRCV001984463 RCV003407977 RCV004770292
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter)	SNV Germline	Chr7:92504840	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter		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		rs_1484321655	1 SubmittersRCV001998051
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 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002310139 RCV003475336 RCV003594184
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)	SNV Germline	Chr12:7202684	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 2B Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003037442 RCV004017960
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			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			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			2 SubmittersRCV002583240 RCV003475395
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)	SNV Germline	Chr7:92511688	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002794871 RCV004571247
NM_000466.3(PEX1):c.1359+1G>C	SNV Germline	Chr7:92513847	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV002838808
NM_000466.3(PEX1):c.3767+2T>C	SNV Germline	Chr7:92489291	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV002838198
NM_000466.3(PEX1):c.2072-1G>A	SNV Germline	Chr7:92503196	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV002857840
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)	SNV Germline	Chr7:92517682	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV002912654
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)	SNV Germline	Chr7:92517467	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			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			2 SubmittersRCV002996430 RCV003475459
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)	SNV Germline	Chr7:92504753	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003010320
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)	SNV Germline	Chr7:92491301	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			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			2 SubmittersRCV003030631 RCV003475474
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)	SNV Germline	Chr7:92501670	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			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			2 SubmittersRCV003044847 RCV003475482
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)	SNV Germline	Chr1:160283009	Likely pathogenic	Peroxisome biogenesis disorder 12A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003131168 RCV004017971
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)	SNV Germline	Chr7:92489369	Pathogenic/Likely pathogenic	Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003476744 RCV003759875
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			2 SubmittersRCV003476751 RCV003759876
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			2 SubmittersRCV003476779 RCV003594694
NM_000466.3(PEX1):c.3439-2A>G	SNV Germline	Chr7:92489913	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003594789
NM_000466.3(PEX1):c.2227-1G>C	SNV Germline	Chr7:92502080	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003594957
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)	SNV Germline	Chr7:92517351	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003593732
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)	SNV Germline	Chr7:92494625	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003594538
NM_000466.3(PEX1):c.2718+1G>A	SNV Germline	Chr7:92499703	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003760858
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)	SNV Germline	Chr7:92517564	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003760871
NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)	SNV Germline	Chr7:92517721	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003758351
NM_000466.3(PEX1):c.1901-2A>G	SNV Germline	Chr7:92504904	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003758368
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)	SNV Germline	Chr7:92517488	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003758359
NM_000466.3(PEX1):c.2416+1G>A	SNV Germline	Chr7:92501889	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003758640
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)	SNV Germline	Chr7:92506293	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003758675
NM_000466.3(PEX1):c.1901-1G>T	SNV Germline	Chr7:92504903	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003759252
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)	SNV Germline	Chr7:92517276	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003759626
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)	SNV Germline	Chr7:92517959	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003760242
NM_000466.3(PEX1):c.1587+1G>T	SNV Germline	Chr7:92510943	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003825119
NM_000466.3(PEX1):c.2417-1G>T	SNV Germline	Chr7:92501674	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003824134
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)	SNV Germline	Chr7:92503121	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV003874237

SNV
Germline

Chr1:2408451

Pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Peroxisome biogenesis disorder 6B
Zellweger spectrum disorders
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA118503

rs_267608183

8 SubmittersRCV000007172 RCV000519441 RCV000817369 RCV000983989 RCV001273137 RCV001174563 RCV002476939

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
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisomal disorder
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
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

40 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)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254194

rs_121434455

7 SubmittersRCV000007949 RCV000763597 RCV001248383 RCV003473054 RCV003480024

NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)

SNV
Germline

Chr8:76983824

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Condition: not provided
PEX2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA123377

rs_61752123

11 SubmittersRCV000014703 RCV000032924 RCV000589554 RCV001275872 RCV002496363 RCV002223176 RCV004748521

NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)

SNV
Germline

Chr8:76984088

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 5A (Zellweger)
Zellweger spectrum disorders
Condition: not provided
PEX2-related disorder

Criteria Provided
Conflicting Classifications

CA220659

rs_149287302

11 SubmittersRCV000078632 RCV000660597 RCV000967707 RCV001276118 RCV001546509 RCV003905040

NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)

SNV
Germline

Chr7:92502076

Pathogenic/Likely 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)
Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA146658

rs_145430946

8 SubmittersRCV000078921 RCV000356824 RCV000859827 RCV001507118

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)
Zellweger spectrum disorders
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146663

rs_71560821

7 SubmittersRCV000078927 RCV000358779 RCV001507135 RCV001200182

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_000318.3(PEX2):c.748T>C (p.Trp250Arg)

SNV
Germline

Chr8:76983431

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA154235

rs_142645936

13 SubmittersRCV000117903 RCV000262649 RCV000435678 RCV001082068 RCV001578657 RCV001835683

NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)

SNV
Germline

Chr1:2406766

Pathogenic

Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA175042

rs_61752092

6 SubmittersRCV000149813 RCV001208724 RCV001831930 RCV000666851 RCV000677268 RCV001844050

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_000287.4(PEX6):c.1677C>A (p.Asp559Glu)

SNV
Germline

Chr6:42968301

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA234544

rs_61732159

5 SubmittersRCV000153691 RCV001083949 RCV001831958 RCV004551326

NM_000466.3(PEX1):c.2926+2T>C

SNV
Germline

Chr7:92494485

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Peroxisome biogenesis disorder type 1A
Condition: not provided
Peroxisome biogenesis disorder
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA274236

rs_267608180

6 SubmittersRCV000169385 RCV001215871 RCV001250202 RCV002291587 RCV002307427 RCV003474911

NM_000466.3(PEX1):c.2926+1G>A

SNV
Germline

Chr7:92494486

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Inborn genetic diseases
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA273894

rs_267608179

8 SubmittersRCV000599041 RCV001194281 RCV001332473 RCV001810430 RCV002228604 RCV002516527 RCV003474896 RCV004555855

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274065

rs_61750418

7 SubmittersRCV000169227 RCV000657614 RCV001004323 RCV001220088 RCV002265653 RCV003474901

NM_000466.3(PEX1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr7:92528433

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA274384

rs_786204704

2 SubmittersRCV000169518 RCV003593925

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_000287.4(PEX6):c.2183C>T (p.Pro728Leu)

SNV
Germline

Chr6:42966359

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Inborn genetic diseases
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA239465

rs_142899308

6 SubmittersRCV000173992 RCV000404054 RCV001083109 RCV001276732 RCV002517668 RCV004552959

NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)

SNV
Germline

Chr6:42965712

Pathogenic

Peroxisome biogenesis disorder
Condition: not provided
Peroxisome biogenesis disorder 4B
Heimler syndrome 2
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Zellweger spectrum disorders
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA201002

rs_267608241

8 SubmittersRCV000802432 RCV000657597 RCV000667668 RCV000763145 RCV001826877 RCV003474926

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_002617.4(PEX10):c.712G>C (p.Gly238Arg)

SNV
Germline

Chr1:2406784

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
Peroxisome biogenesis disorder 6A (Zellweger)
PEX10-related disorder
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B

Criteria Provided
Conflicting Classifications

CA245491

rs_61736380

8 SubmittersRCV000178398 RCV001034401 RCV001272159 RCV001097563 RCV003977464 RCV000763844

NM_002617.4(PEX10):c.611G>A (p.Arg204His)

SNV
Germline

Chr1:2406885

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA245493

rs_199934621

5 SubmittersRCV000178399 RCV000315166 RCV001086346 RCV001272161 RCV003907615

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_000287.4(PEX6):c.821C>T (p.Pro274Leu)

SNV
Germline

Chr6:42978330

Pathogenic/Likely pathogenic

Heimler syndrome 2
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Inborn genetic diseases
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 4A (Zellweger)
Condition: not provided
PEX6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210642

rs_61753219

11 SubmittersRCV000201297 RCV000666553 RCV000622824 RCV000735222 RCV001193476 RCV001276623 RCV001808558 RCV002243878 RCV004737319

NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)

SNV
Germline

Chr7:92503153

Conflicting classifications of pathogenicity

Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
PEX1-related disorder
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA279184

rs_863225084

6 SubmittersRCV000201290 RCV001810437 RCV002517304 RCV003417729 RCV001075286 RCV004701263

NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)

SNV
Germline

Chr7:92507055

Pathogenic/Likely pathogenic

Heimler syndrome 1
Retinal dystrophy
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA210119

rs_370483961

6 SubmittersRCV000201302 RCV001075087 RCV001377625 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

Criteria Provided
Multiple Submitters
No Conflicts

CA210121

rs_756876301

8 SubmittersRCV000201308 RCV000633316 RCV001004518 RCV001376605 RCV001526999 RCV001795328 RCV003422106

NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)

SNV
Germline

Chr7:92494357

Pathogenic/Likely pathogenic

Zellweger spectrum disorders
Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Inborn genetic diseases
Heimler syndrome 1
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4340947

rs_61750427

6 SubmittersRCV002229187 RCV002251446 RCV001004317 RCV002515571 RCV000240787 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
Abnormality of metabolism/homeostasis
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
See cases
Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4341072

rs_61750422

11 SubmittersRCV000254886 RCV001260325 RCV001814132 RCV001004321 RCV001063888 RCV002252071 RCV001376587 RCV003475860

NM_002617.4(PEX10):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:2412502

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA10602763

rs_886041314

5 SubmittersRCV000341916 RCV001385998 RCV001828171 RCV000666568 RCV004567820

NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)

SNV
Germline

Chr1:2406561

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA10604149

rs_62641225

5 SubmittersRCV000289565 RCV001381855 RCV003155147 RCV001833319 RCV003475892

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)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340805

rs_182452430

6 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_002617.4(PEX10):c.896C>T (p.Ala299Val)

SNV
Germline

Chr1:2406500

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA537986

rs_78620392

6 SubmittersRCV000403122 RCV000398333 RCV001086392 RCV001272149 RCV003930089

NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)

SNV
Germline

Chr7:92493054

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4340902

rs_754130942

6 SubmittersRCV000350916 RCV002480020 RCV001277300 RCV003165737

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
PEX1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4341565

rs_141798874

10 SubmittersRCV000306324 RCV000889675 RCV001355075 RCV001420972 RCV003977775 RCV004955376

NM_000466.3(PEX1):c.468A>G (p.Gln156=)

SNV
Germline

Chr7:92518145

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
PEX1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4341604

rs_149729088

6 SubmittersRCV000271066 RCV000543039 RCV001507194 RCV003940002 RCV003437049

NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)

SNV
Germline

Chr6:42978298

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 4A (Zellweger)
Zellweger spectrum disorders
Condition: not provided
Peroxisome biogenesis disorder
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA3811549

rs_61753220

8 SubmittersRCV000344101 RCV000387310 RCV001276622 RCV002225576 RCV000709968 RCV004547701

NM_000466.3(PEX1):c.1360-7C>T

SNV
Germline

Chr7:92511710

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Retinal dystrophy
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341414

rs_371890000

6 SubmittersRCV000268203 RCV001080221 RCV001336887 RCV004816504 RCV001277309

NM_002617.4(PEX10):c.915G>A (p.Ala305=)

SNV
Germline

Chr1:2405832

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Peroxisome biogenesis disorder 6A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA537953

rs_374891812

4 SubmittersRCV000393024 RCV001082724 RCV001101219 RCV001277100

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

Criteria Provided
Conflicting Classifications

CA4341413

rs_199716270

5 SubmittersRCV000271696 RCV000351986 RCV001450061 RCV002521991 RCV003957498

NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)

SNV
Germline

Chr7:92496746

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

CA4341025

rs_371327573

4 SubmittersRCV000301612 RCV000764729 RCV001855212

NM_002617.4(PEX10):c.816G>T (p.Leu272=)

SNV
Germline

Chr1:2406580

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Peroxisome biogenesis disorder 6A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA538006

rs_144440263

4 SubmittersRCV000264178 RCV001087950 RCV001097466 RCV001833392

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
Inborn genetic diseases
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA4340908

rs_185181696

7 SubmittersRCV000332762 RCV001240865 RCV002480047 RCV004021294 RCV004752832

NM_000287.4(PEX6):c.2700C>T (p.Asn900=)

SNV
Germline

Chr6:42964896

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA3810929

rs_533766104

5 SubmittersRCV000345818 RCV000407237 RCV001087849 RCV001833397 RCV004549619

NM_000318.3(PEX2):c.795T>C (p.Tyr265=)

SNV
Germline

Chr8:76983384

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Conflicting Classifications

CA4788653

rs_764785488

3 SubmittersRCV000405154 RCV001275869 RCV001078844

NM_000466.3(PEX1):c.939T>C (p.His313=)

SNV
Germline

Chr7:92517576

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)

Criteria Provided
Conflicting Classifications

CA4341515

rs_199647157

4 SubmittersRCV000296594 RCV001507170 RCV001085224

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_002617.4(PEX10):c.316C>T (p.Leu106=)

SNV
Germline

Chr1:2408736

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 6A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA538213

rs_140340426

5 SubmittersRCV000269378 RCV000730829 RCV001083113 RCV001272169 RCV003957548

NM_002617.4(PEX10):c.555C>T (p.His185=)

SNV
Germline

Chr1:2408497

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 6A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA538137

rs_75377471

4 SubmittersRCV000275159 RCV000731758 RCV001087429 RCV001272165

NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)

SNV
Germline

Chr1:2408634

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 6A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Inborn genetic diseases
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA538184

rs_76530653

9 SubmittersRCV000309150 RCV000676044 RCV001037362 RCV001272167 RCV002480074 RCV002520466 RCV003957547

NM_002617.4(PEX10):c.280G>A (p.Val94Met)

SNV
Germline

Chr1:2408772

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA538226

rs_142626035

3 SubmittersRCV000378821 RCV000922425 RCV001835774

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)
Zellweger spectrum disorders
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4340893

rs_776231556

3 SubmittersRCV000396766 RCV001861309 RCV000729990

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
Heimler syndrome 1
Zellweger spectrum disorders
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA4340845

rs_142994610

8 SubmittersRCV000285353 RCV000733368 RCV001262592 RCV001507178 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_000287.4(PEX6):c.2907G>C (p.Arg969=)

SNV
Germline

Chr6:42964371

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA3810866

rs_145243129

3 SubmittersRCV000279268 RCV000966458 RCV001276729

NM_000287.4(PEX6):c.2736G>A (p.Ala912=)

SNV
Germline

Chr6:42964860

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA3810919

rs_202049230

4 SubmittersRCV000349557 RCV000728934 RCV001083938 RCV001276730

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)
Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA4341401

rs_139919229

5 SubmittersRCV000348562 RCV000598077 RCV001507172 RCV003932488

NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)

SNV
Germline

Chr7:92511683

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA4341409

rs_565049190

5 SubmittersRCV000405009 RCV000728937 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.3208-1G>A

SNV
Germline

Chr7:92491503

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16041146

rs_1057517518

7 SubmittersRCV000409017 RCV000411432 RCV000599082 RCV001376544 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/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
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 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16041152

rs_1057517485

3 SubmittersRCV000409416 RCV000411881 RCV001004320 RCV001213658 RCV003475984

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.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)
Heimler syndrome 1
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4341376

rs_754983126

3 SubmittersRCV000410009 RCV000412445 RCV003475975 RCV002523884

NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)

SNV
Germline

Chr7:92517968

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4341576

rs_149806989

5 SubmittersRCV000409397 RCV000411910 RCV000780585 RCV001376604 RCV002488843 RCV003475991

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 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16041173

rs_1057517479

4 SubmittersRCV000409170 RCV000410312 RCV001004523 RCV001861401 RCV002502434 RCV004567892

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041177

rs_766020928

2 SubmittersRCV000410653 RCV000411721 RCV002230732

NM_000466.3(PEX1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:92528434

Pathogenic

Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA4341711

rs_766020928

6 SubmittersRCV000410262 RCV000412294 RCV001174676 RCV001232745 RCV001250203

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041178

rs_1057517501

3 SubmittersRCV000409502 RCV000411873 RCV000598681 RCV001384497

NM_000466.3(PEX1):c.1587+5T>C

SNV
Germline

Chr7:92510939

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)

Criteria Provided
Conflicting Classifications

CA4341370

rs_199526105

6 SubmittersRCV000730939 RCV001277308 RCV001162173

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
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA4341372

rs_144942544

15 SubmittersRCV000584993 RCV000591691 RCV000660395 RCV001083497 RCV001391319 RCV001578749 RCV003925755

NM_000287.4(PEX6):c.1233+1G>A

SNV
Germline

Chr6:42969884

Likely pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3811407

rs_763459576

4 SubmittersRCV000588951 RCV001834834 RCV003471937

NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)

SNV
Germline

Chr7:92494331

Pathogenic/Likely pathogenic

Heimler syndrome 1
Condition: not provided
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4340941

rs_61750428

5 SubmittersRCV000984291 RCV001783092 RCV000590014 RCV000818703 RCV000984292 RCV002232225

NM_002617.4(PEX10):c.268C>T (p.Leu90=)

SNV
Germline

Chr1:2408784

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Peroxisome biogenesis disorder 6A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA538231

rs_775772867

4 SubmittersRCV000593622 RCV001087511 RCV001095873 RCV001829641

NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)

SNV
Germline

Chr7:92504758

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4341232

rs_145350631

5 SubmittersRCV000596374 RCV001203812 RCV004955684

NM_000466.3(PEX1):c.2509C>T (p.Leu837=)

SNV
Germline

Chr7:92501581

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341106

rs_371701421

2 SubmittersRCV000591443 RCV001442207

NM_000318.3(PEX2):c.825C>T (p.Asp275=)

SNV
Germline

Chr8:76983354

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 5A (Zellweger)
Zellweger spectrum disorders
PEX2-related disorder

Criteria Provided
Conflicting Classifications

CA4788647

rs_367649632

4 SubmittersRCV000593351 RCV001080311 RCV001279838 RCV003925778

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_002617.4(PEX10):c.765G>A (p.Leu255=)

SNV
Germline

Chr1:2406731

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA538043

rs_140133667

3 SubmittersRCV000596202 RCV001079384 RCV001272158

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_002617.4(PEX10):c.601-27A>G

SNV
Germline

Chr1:2406922

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA538102

rs_144264865

5 SubmittersRCV000596139 RCV001099326 RCV001086559 RCV001272164 RCV003935614

NM_000466.3(PEX1):c.1284C>T (p.Ala428=)

SNV
Germline

Chr7:92513923

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341444

rs_145153467

4 SubmittersRCV000598186 RCV001277311

NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)

SNV
Germline

Chr6:42967495

Conflicting classifications of pathogenicity

Condition: not provided
Heimler syndrome 2
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Inborn genetic diseases
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA3811225

rs_146416679

8 SubmittersRCV000597689 RCV001333352 RCV001049098 RCV001834899 RCV004659122 RCV004553332

NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp)

SNV
Germline

Chr6:42966541

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA3811137

rs_748535121

3 SubmittersRCV000596492 RCV001051856 RCV001834900

NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)

SNV
Germline

Chr7:92489717

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA4340786

rs_753334806

4 SubmittersRCV000596039 RCV001398051 RCV003905554

NM_000287.4(PEX6):c.25C>T (p.Leu9=)

SNV
Germline

Chr6:42979126

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Condition: not provided
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Conflicting Classifications

CA3811650

rs_183449855

4 SubmittersRCV001276742 RCV000593272 RCV001086149 RCV001158852

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 due to PEX1 defect
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340856

rs_753699011

4 SubmittersRCV000597351 RCV002272300 RCV002476342 RCV002532681

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_000287.4(PEX6):c.1670A>G (p.Asn557Ser)

SNV
Germline

Chr6:42968308

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Zellweger spectrum disorders
Condition: not provided
Peroxisome biogenesis disorder 4A (Zellweger)
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA3811267

rs_138621982

6 SubmittersRCV001068866 RCV001829689 RCV000592165 RCV001163662 RCV004553344

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 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

rs_553001596

2 SubmittersRCV000660614 RCV001451234

NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)

SNV
Germline

Chr6:42965115

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Heimler syndrome 2
Heimler syndrome 2
PEX6-related disorder

Criteria Provided
Conflicting Classifications

rs_267608246

9 SubmittersRCV000666171 RCV001198918 RCV001242506 RCV001835075 RCV002477483 RCV003472077 RCV004547836

NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)

SNV
Germline

Chr6:42978663

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Inborn genetic diseases
Heimler syndrome 2
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B

Criteria Provided
Conflicting Classifications

rs_778791031

7 SubmittersRCV000664899 RCV000731346 RCV001247917 RCV001835068 RCV002530640 RCV002485520

NM_000287.4(PEX6):c.2362+1G>A

SNV
Germline

Chr6:42966043

Likely pathogenic

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1443107232

4 SubmittersRCV000666129 RCV001043607 RCV001276614 RCV003472076

NM_000466.3(PEX1):c.273+1G>A

SNV
Germline

Chr7:92522101

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554376597

5 SubmittersRCV000674474 RCV001377626 RCV002499189 RCV003472170

NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)

SNV
Germline

Chr7:92528431

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_762679408

4 SubmittersRCV000674254 RCV001201378 RCV003472166

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

rs_954814470

5 SubmittersRCV000669293 RCV000729582 RCV001332474 RCV002531221 RCV003472113

NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)

SNV
Germline

Chr7:92493122

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Conflicting Classifications

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

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
Multiple Submitters
No Conflicts

rs_1478905473

2 SubmittersRCV000668401 RCV003594017

NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)

SNV
Germline

Chr7:92506251

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Heimler syndrome 1
PEX1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_61750409

5 SubmittersRCV000665705 RCV001193608 RCV001868206 RCV003472072 RCV003420172

NM_000466.3(PEX1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr7:92528435

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517501

3 SubmittersRCV000667385 RCV001091386 RCV003767954

NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)

SNV
Germline

Chr7:92494567

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Condition: not provided
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

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)
Heimler syndrome 1
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_61750407

4 SubmittersRCV000664531 RCV003472062 RCV003594015

NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)

SNV
Germline

Chr7:92517946

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554375599

3 SubmittersRCV000665963 RCV001229220

NM_000466.3(PEX1):c.358-2A>C

SNV
Germline

Chr7:92518257

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517500

4 SubmittersRCV000670124 RCV002477500 RCV001855537 RCV004568536

NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)

SNV
Germline

Chr8:76983806

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 5A (Zellweger)
Zellweger spectrum disorders
Peroxisome biogenesis disorder 5B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_61752124

9 SubmittersRCV000664468 RCV000780588 RCV001053880 RCV001275871 RCV002281578 RCV003231574

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

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

rs_866184460

5 SubmittersRCV000704649 RCV001580539 RCV004796289 RCV003472246

NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)

SNV
Germline

Chr6:42969725

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Condition: not provided
Zellweger spectrum disorders
Heimler syndrome 2

Criteria Provided
Conflicting Classifications

rs_771063294

5 SubmittersRCV000702969 RCV000728099 RCV001830552 RCV003472243

NM_000318.3(PEX2):c.447T>G (p.Gly149=)

SNV
Germline

Chr8:76983732

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 5A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

rs_375401977

4 SubmittersRCV000728093 RCV001086562 RCV001276114

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

rs_138905930

4 SubmittersRCV000728121 RCV001363390 RCV004958062

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

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

rs_140963147

7 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

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

rs_113162185

2 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

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

rs_371309198

3 SubmittersRCV000731755 RCV001164201 RCV001454268

NM_000287.4(PEX6):c.106C>T (p.Leu36=)

SNV
Germline

Chr6:42979045

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

rs_758416830

3 SubmittersRCV000732014 RCV001452900 RCV001825469

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

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

rs_757668497

3 SubmittersRCV000732191 RCV001087466

NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)

SNV
Germline

Chr6:42967478

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Conflicting Classifications

rs_375288192

5 SubmittersRCV000732195 RCV001245942 RCV001830618 RCV003338774

NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)

SNV
Germline

Chr1:2408627

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_138843050

4 SubmittersRCV000732617 RCV001395788 RCV001825473 RCV002536485

NM_000287.4(PEX6):c.855C>A (p.Pro285=)

SNV
Germline

Chr6:42978296

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
not specified
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

rs_757897959

4 SubmittersRCV000732962 RCV001474745 RCV001731914 RCV001835944

NM_000466.3(PEX1):c.2646G>A (p.Pro882=)

SNV
Germline

Chr7:92499776

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

rs_775421085

2 SubmittersRCV000734198 RCV001478727

NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)

SNV
Germline

Chr6:42967451

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 4A (Zellweger)
Condition: not provided
Zellweger spectrum disorders
Heimler syndrome 2
Peroxisome biogenesis disorder
PEX6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_61753225

8 SubmittersRCV000779505 RCV001576829 RCV001825519 RCV003472310 RCV002535657 RCV004549856

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

rs_61750417

4 SubmittersRCV000798670 RCV000780584 RCV003472313

NM_000466.3(PEX1):c.1900+2T>C

SNV
Germline

Chr7:92506246

Pathogenic/Likely pathogenic

Zellweger spectrum disorders
Peroxisome biogenesis disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562857198

3 SubmittersRCV001377624 RCV000780587 RCV001570534

NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)

SNV
Germline

Chr7:92517352

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

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

rs_1585224312

2 SubmittersRCV001830708

NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)

SNV
Germline

Chr8:76983287

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 5A (Zellweger)
Zellweger spectrum disorders
Peroxisome biogenesis disorder 5B
PEX2-related disorder

Criteria Provided
Conflicting Classifications

rs_544763390

4 SubmittersRCV000970645 RCV001276113 RCV001578803 RCV003905995

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

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
Condition: not provided
Heimler syndrome 1
PEX1-related disorder

Criteria Provided
Conflicting Classifications

rs_202230667

7 SubmittersRCV000904646 RCV001277316 RCV001578708 RCV001729741 RCV001578707 RCV003958200

NM_000287.4(PEX6):c.1365A>G (p.Pro455=)

SNV
Germline

Chr6:42969670

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

rs_759402659

3 SubmittersRCV001158733 RCV001466313 RCV001827014

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

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 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_201415996

5 SubmittersRCV001004522 RCV001030786 RCV001869414 RCV001784534

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

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

rs_1585244586

2 SubmittersRCV001030044 RCV002552037

NM_002617.4(PEX10):c.447G>A (p.Thr149=)

SNV
Germline

Chr1:2408605

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759220912

3 SubmittersRCV001059447 RCV001832533 RCV004691327

NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)

SNV
Germline

Chr6:42964861

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 4A (Zellweger)
See cases
Heimler syndrome 2
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4A (Zellweger)
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_62641232

6 SubmittersRCV001049060 RCV001274622 RCV001823180 RCV003156137 RCV003473637 RCV002479299

NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)

SNV
Germline

Chr7:92502010

Conflicting classifications of pathogenicity

PEX1-related disorder
Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

rs_374010060

4 SubmittersRCV004753183 RCV003480928 RCV001832483

NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter)

SNV
Germline

Chr7:92506331

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

rs_1792186595

1 SubmittersRCV001047697

NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)

SNV
Germline

Chr7:92507097

Conflicting classifications of pathogenicity

Inborn genetic diseases
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

rs_199989676

3 SubmittersRCV004960426 RCV001833649

NM_000466.3(PEX1):c.1900+1G>A

SNV
Germline

Chr7:92506247

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

rs_770447891

1 SubmittersRCV001036555

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

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

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

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

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

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)
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B

Criteria Provided
Conflicting Classifications

rs_1792111444

3 SubmittersRCV001160558 RCV003759000 RCV002483910

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

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

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

rs_267608177

4 SubmittersRCV001193609 RCV001377623 RCV003313184 RCV003473732

NM_000287.4(PEX6):c.543G>A (p.Val181=)

SNV
Germline

Chr6:42978608

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Peroxisome biogenesis disorder
Condition: not provided
PEX6-related disorder

Criteria Provided
Conflicting Classifications

rs_368560418

4 SubmittersRCV001833933 RCV001223288 RCV003132291 RCV004738198

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

rs_1232449804

4 SubmittersRCV001206563 RCV004570441 RCV003983849

NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)

SNV
Germline

Chr6:42966627

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4A (Zellweger)
Heimler syndrome 2
Heimler syndrome 2

Criteria Provided
Conflicting Classifications

rs_267608230

5 SubmittersRCV001248070 RCV001836248 RCV004697090 RCV002480855 RCV003473835

NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)

SNV
Germline

Chr6:42968413

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Zellweger spectrum disorders
Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Conflicting Classifications

rs_374396138

3 SubmittersRCV001245249 RCV001829952 RCV002246231

NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)

SNV
Germline

Chr7:92503067

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
PEX1-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141510219

7 SubmittersRCV001247525 RCV001250066 RCV003393917 RCV003481031 RCV004034895

NM_000466.3(PEX1):c.3208-3T>C

SNV
Germline

Chr7:92491505

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B

Criteria Provided
Conflicting Classifications

rs_763767937

3 SubmittersRCV001237503 RCV004727025

NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)

SNV
Germline

Chr6:42965261

Likely pathogenic

PEX6-related disorder
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Heimler syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_61753231

5 SubmittersRCV001265583 RCV001309121 RCV001830065 RCV003473843 RCV004699248

NM_000287.4(PEX6):c.2585G>T (p.Gly862Val)

SNV
Germline

Chr6:42965255

Pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Single Submitter

rs_764227040

2 SubmittersRCV001318814 RCV001830322

NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)

SNV
Germline

Chr7:92517794

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B

Criteria Provided
Conflicting Classifications

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

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

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

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

rs_2116059303

1 SubmittersRCV001390901

NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)

SNV
Germline

Chr7:92493123

Pathogenic/Likely pathogenic

Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1791439311

3 SubmittersRCV001380782 RCV003984857 RCV003473928

NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter)

SNV
Germline

Chr7:92511607

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

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

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)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B

Criteria Provided
Conflicting Classifications

rs_1009877821

3 SubmittersRCV001496742 RCV001578741 RCV001578740 RCV001578742

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

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

rs_1792222710

1 SubmittersRCV001919330

NM_000466.3(PEX1):c.3438+1G>A

SNV
Germline

Chr7:92491271

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

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

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

rs_2116181877

1 SubmittersRCV001941647

NM_000466.3(PEX1):c.357+1G>T

SNV
Germline

Chr7:92518994

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_866144313

3 SubmittersRCV002486589 RCV001999185 RCV003475275

NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)

SNV
Germline

Chr7:92503105

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_375045292

3 SubmittersRCV001984463 RCV003407977 RCV004770292

NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter)

SNV
Germline

Chr7:92504840

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

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

rs_1484321655

1 SubmittersRCV001998051

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
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002310139 RCV003475336 RCV003594184

NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)

SNV
Germline

Chr12:7202684

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 2B
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003037442 RCV004017960

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

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

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

2 SubmittersRCV002583240 RCV003475395

NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)

SNV
Germline

Chr7:92511688

Pathogenic/Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002794871 RCV004571247

NM_000466.3(PEX1):c.1359+1G>C

SNV
Germline

Chr7:92513847

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV002838808

NM_000466.3(PEX1):c.3767+2T>C

SNV
Germline

Chr7:92489291

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV002838198

NM_000466.3(PEX1):c.2072-1G>A

SNV
Germline

Chr7:92503196

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV002857840

NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)

SNV
Germline

Chr7:92517682

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV002912654

NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr7:92517467

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

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

2 SubmittersRCV002996430 RCV003475459

NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)

SNV
Germline

Chr7:92504753

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003010320

NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)

SNV
Germline

Chr7:92491301

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

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

2 SubmittersRCV003030631 RCV003475474

NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)

SNV
Germline

Chr7:92501670

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

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

2 SubmittersRCV003044847 RCV003475482

NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)

SNV
Germline

Chr1:160283009

Likely pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003131168 RCV004017971

NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)

SNV
Germline

Chr7:92489369

Pathogenic/Likely pathogenic

Heimler syndrome 1
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476744 RCV003759875

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

2 SubmittersRCV003476751 RCV003759876

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

2 SubmittersRCV003476779 RCV003594694

NM_000466.3(PEX1):c.3439-2A>G

SNV
Germline

Chr7:92489913

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003594789

NM_000466.3(PEX1):c.2227-1G>C

SNV
Germline

Chr7:92502080

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003594957

NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)

SNV
Germline

Chr7:92517351

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003593732

NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)

SNV
Germline

Chr7:92494625

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003594538

NM_000466.3(PEX1):c.2718+1G>A

SNV
Germline

Chr7:92499703

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003760858

NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)

SNV
Germline

Chr7:92517564

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003760871

NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)

SNV
Germline

Chr7:92517721

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003758351

NM_000466.3(PEX1):c.1901-2A>G

SNV
Germline

Chr7:92504904

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003758368

NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)

SNV
Germline

Chr7:92517488

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003758359

NM_000466.3(PEX1):c.2416+1G>A

SNV
Germline

Chr7:92501889

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003758640

NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)

SNV
Germline

Chr7:92506293

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003758675

NM_000466.3(PEX1):c.1901-1G>T

SNV
Germline

Chr7:92504903

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003759252

NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)

SNV
Germline

Chr7:92517276

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003759626

NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)

SNV
Germline

Chr7:92517959

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003760242

NM_000466.3(PEX1):c.1587+1G>T

SNV
Germline

Chr7:92510943

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003825119

NM_000466.3(PEX1):c.2417-1G>T

SNV
Germline

Chr7:92501674

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003824134

NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr7:92503121

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003874237