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 Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Lymphoma	Criteria Provided Multiple Submitters No Conflicts	CA118503	rs_267608183	9 SubmittersRCV000007172 RCV000519441 RCV000817369 RCV000983989 RCV001174563 RCV001273137 RCV002476939 RCV005887335
NM_002617.4(PEX10):c.870C>G (p.His290Gln)	SNV Germline	Chr1:2406526	Likely pathogenic	Peroxisome biogenesis disorder 6B Zellweger spectrum disorders	Criteria Provided Single Submitter	CA118504	rs_61752095	2 SubmittersRCV000007173 RCV006638580
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)	SNV Germline	Chr1:2408679	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA118506	rs_61750434	6 SubmittersRCV000007174 RCV000670577 RCV001058978 RCV002222345 RCV003472994 RCV006638581
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	SNV Germline	Chr7:92501562	Pathogenic	Peroxisome biogenesis disorder Leber congenital amaurosis Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisomal disorder 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	43 SubmittersRCV000007946 RCV000022416 RCV000032927 RCV000078922 RCV000345695 RCV000661947 RCV001004322 RCV000763596 RCV000791271 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 Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 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_000287.4(PEX6):c.1130+1G>A	SNV Germline	Chr6:42974002	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA138230735	rs_267608213	3 SubmittersRCV000008592 RCV001239904 RCV005606632
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 Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B PEX2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123377	rs_61752123	11 SubmittersRCV000014703 RCV000032924 RCV000589554 RCV001275872 RCV002223176 RCV002496363 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	5 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	9 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) Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA146663	rs_71560821	9 SubmittersRCV000078927 RCV000358779 RCV001200182 RCV001507135
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)	SNV Germline	Chr7:92517841	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA220984	rs_372485912	5 SubmittersRCV000078930 RCV001246411
NM_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	14 SubmittersRCV000117903 RCV000262649 RCV000435678 RCV001082068 RCV001578657 RCV001835683
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)	SNV Germline	Chr1:2406566	Likely pathogenic	Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Condition: not provided Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA175037	rs_724160000	8 SubmittersRCV000149810 RCV000675117 RCV001206752 RCV003133148 RCV003474799 RCV006638880
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	SNV Germline	Chr1:2405815	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA175039	rs_724160001	7 SubmittersRCV000149811 RCV000675089 RCV000728635 RCV001246837 RCV003474800 RCV006638881
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)	SNV Germline	Chr1:2406766	Pathogenic	Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder Zellweger spectrum disorders Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA175042	rs_61752092	7 SubmittersRCV000149813 RCV000666851 RCV000677268 RCV001208724 RCV001844050 RCV001831930 RCV006277719
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	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder type 1A Zellweger spectrum disorders Peroxisome biogenesis disorder Condition: not provided Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA274236	rs_267608180	9 SubmittersRCV000169385 RCV001250202 RCV001215871 RCV002307427 RCV002291587 RCV003474911 RCV005031695
NM_000466.3(PEX1):c.2926+1G>A	SNV Germline	Chr7:92494486	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder 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	10 SubmittersRCV000599041 RCV001194281 RCV001332473 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 Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA274065	rs_61750418	9 SubmittersRCV000169227 RCV000657614 RCV001004323 RCV001220088 RCV002265653 RCV003474901 RCV005031692
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)	SNV Germline	Chr7:92528433	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Single Submitter	CA274384	rs_786204704	2 SubmittersRCV000169518 RCV003593925
NM_000466.3(PEX1):c.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 Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	Criteria Provided Conflicting Classifications	CA239465	rs_142899308	7 SubmittersRCV000173992 RCV000404054 RCV001083109 RCV001276732 RCV002517668 RCV004552959 RCV005396525
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)	SNV Germline	Chr6:42965712	Pathogenic	Condition: not provided Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 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 SubmittersRCV000657597 RCV000667668 RCV000802432 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 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders PEX10-related disorder	Criteria Provided Conflicting Classifications	CA245491	rs_61736380	9 SubmittersRCV000178398 RCV000763844 RCV001034401 RCV001097563 RCV001272159 RCV003977464
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 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA203013	rs_142018583	6 SubmittersRCV000178774 RCV000906584 RCV001507201 RCV006439711
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.1802G>A (p.Arg601Gln)	SNV Germline	Chr6:42967450	Conflicting classifications of pathogenicity	not specified Heimler syndrome 2 Condition: not provided Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Retinal dystrophy Peroxisome biogenesis disorder PEX6-related disorder Peroxisome biogenesis disorder 4B Prelingual sensorineural hearing impairment Inborn genetic diseases Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA210643	rs_34324426	30 SubmittersRCV000180127 RCV000201298 RCV000424129 RCV000675148 RCV000779504 RCV000850505 RCV001075628 RCV001081170 RCV001265584 RCV003987426 RCV006699226 RCV006659257 RCV006730259
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 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA210642	rs_61753219	13 SubmittersRCV000201297 RCV000666553 RCV000622824 RCV000735222 RCV001193476 RCV001276623 RCV001808558 RCV002243878 RCV004737319 RCV005031753
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)	SNV Germline	Chr6:42966813	Conflicting classifications of pathogenicity	Heimler syndrome 2 not specified Peroxisome biogenesis disorder PEX6-related disorder Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA210645	rs_769896492	6 SubmittersRCV000201306 RCV001328449 RCV001853224 RCV004737320 RCV005031754 RCV006640455
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)	SNV Germline	Chr7:92503153	Conflicting classifications of pathogenicity	Heimler syndrome 1 Retinal dystrophy PEX1-related disorder Zellweger spectrum disorders not specified Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA279184	rs_863225084	6 SubmittersRCV000201290 RCV001075286 RCV003417729 RCV002517304 RCV004701263 RCV006694778
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 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA210121	rs_756876301	10 SubmittersRCV000201308 RCV000633316 RCV001004518 RCV001376605 RCV001526999 RCV001795328 RCV003422106 RCV005031756
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)	SNV Germline	Chr6:42967537	Pathogenic/Likely pathogenic	Heimler syndrome 2 Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA10575897	rs_61753224	6 SubmittersRCV000240689 RCV001795343 RCV002500674 RCV006640475
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	SNV Germline	Chr7:92494357	Pathogenic/Likely pathogenic	Heimler syndrome 1 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided Inborn genetic diseases Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4340947	rs_61750427	10 SubmittersRCV000240787 RCV001004317 RCV002229187 RCV002251446 RCV002515571 RCV003226251 RCV005042454
NM_002617.4(PEX10):c.776+1G>C	SNV Germline	Chr1:2406719	Pathogenic/Likely pathogenic	Inborn genetic diseases Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA358179	rs_869312935	3 SubmittersRCV000210672 RCV002515587 RCV006640477
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)	SNV Germline	Chr7:92487499	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340719	rs_139054881	5 SubmittersRCV000239086 RCV000886828 RCV001507190 RCV003939908
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	SNV Germline	Chr7:92499808	Pathogenic	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders Abnormality of metabolism/homeostasis See cases Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4341072	rs_61750422	12 SubmittersRCV000254886 RCV001004321 RCV001063888 RCV001260325 RCV001376587 RCV001814132 RCV002252071 RCV003475860
NM_002617.4(PEX10):c.1A>G (p.Met1Val)	SNV Germline	Chr1:2412502	Pathogenic	Condition: not provided Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA10602763	rs_886041314	6 SubmittersRCV000341916 RCV000666568 RCV001385998 RCV001828171 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 Zellweger spectrum disorders Peroxisome biogenesis disorder Peroxisome biogenesis disorder 6A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA10604149	rs_62641225	5 SubmittersRCV000289565 RCV001381855 RCV001833319 RCV003155147 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	7 SubmittersRCV000283658 RCV000764728 RCV001275210
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)	SNV Germline	Chr7:92494571	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340995	rs_374167385	6 SubmittersRCV000304199 RCV000311034 RCV001240601 RCV003930068
NM_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 Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4340902	rs_754130942	6 SubmittersRCV000350916 RCV001277300 RCV002480020 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) Peroxisome biogenesis disorder Zellweger spectrum disorders Condition: not provided PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811549	rs_61753220	8 SubmittersRCV000344101 RCV000387310 RCV000709968 RCV001276622 RCV002225576 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 Zellweger spectrum disorders Retinal dystrophy	Criteria Provided Conflicting Classifications	CA4341414	rs_371890000	7 SubmittersRCV000268203 RCV001080221 RCV001336887 RCV001277309 RCV004816504
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 Malignant tumor of urinary bladder Lung cancer	Criteria Provided Conflicting Classifications	CA537953	rs_374891812	5 SubmittersRCV000393024 RCV001082724 RCV001101219 RCV001277100 RCV005895755 RCV005895756
NM_000466.3(PEX1):c.891A>G (p.Ile297Met)	SNV Germline	Chr7:92517624	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341525	rs_143206380	4 SubmittersRCV000370995 RCV001277060
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	9 SubmittersRCV000298949 RCV000345924 RCV000766589 RCV001277301 RCV003977800
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe)	SNV Germline	Chr7:92519059	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4341643	rs_369100815	3 SubmittersRCV000325375 RCV001458350 RCV002518035
NM_000466.3(PEX1):c.1360-4G>T	SNV Germline	Chr7:92511707	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Inborn genetic diseases PEX1-related disorder Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA4341413	rs_199716270	7 SubmittersRCV000271696 RCV000351986 RCV001450061 RCV002521991 RCV003957498 RCV005355607
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)	SNV Germline	Chr7:92496746	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341025	rs_371327573	4 SubmittersRCV000301612 RCV000764729 RCV001855212
NM_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 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Inborn genetic diseases PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340908	rs_185181696	8 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 Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4788653	rs_764785488	3 SubmittersRCV000405154 RCV001078844 RCV001275869
NM_000466.3(PEX1):c.939T>C (p.His313=)	SNV Germline	Chr7:92517576	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders not specified	Criteria Provided Conflicting Classifications	CA4341515	rs_199647157	5 SubmittersRCV000296594 RCV001085224 RCV001507170 RCV005407028
NM_000466.3(PEX1):c.2926+8T>C	SNV Germline	Chr7:92494479	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders not specified PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340977	rs_369877998	6 SubmittersRCV000333673 RCV001086316 RCV001450071 RCV001700030 RCV003930197
NM_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 6B Peroxisome biogenesis disorder 6A (Zellweger) 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) Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340893	rs_776231556	3 SubmittersRCV000396766 RCV000729990 RCV001861309
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	SNV Germline	Chr7:92491337	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Heimler syndrome 1 Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340845	rs_142994610	9 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 Uveal melanoma	Criteria Provided Conflicting Classifications	CA4340962	rs_375062546	3 SubmittersRCV000396793 RCV002058679 RCV005899271
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA3810866	rs_145243129	4 SubmittersRCV000279268 RCV000966458 RCV001276729 RCV006443150
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	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341409	rs_565049190	5 SubmittersRCV000728937 RCV000405009 RCV001277057 RCV003970059
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)	SNV Germline	Chr1:2408700	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA16040725	rs_369965266	4 SubmittersRCV000410037 RCV000411504 RCV001290646 RCV002523888 RCV006640602
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	6 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	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Condition: not provided Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041148	rs_1057517481	5 SubmittersRCV000410455 RCV000411996 RCV001201668 RCV001004319 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) Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA16041152	rs_1057517485	6 SubmittersRCV000409416 RCV000411881 RCV001213658 RCV001004320 RCV003475984 RCV005033923
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	4 SubmittersRCV000410160 RCV000412134 RCV002523885 RCV003475978
NM_000466.3(PEX1):c.1670+1G>T	SNV Germline	Chr7:92509328	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA16041162	rs_1057517490	5 SubmittersRCV000410364 RCV000411848 RCV002523887 RCV003475985 RCV005632389
NM_000466.3(PEX1):c.1670+1G>A	SNV Germline	Chr7:92509328	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA16041163	rs_1057517490	4 SubmittersRCV000409269 RCV000411209 RCV002523889
NM_000466.3(PEX1):c.1587+1G>A	SNV Germline	Chr7:92510943	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041164	rs_1057517469	3 SubmittersRCV000409309 RCV000411742 RCV001212702 RCV003475979
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)	SNV Germline	Chr7:92511003	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4341376	rs_754983126	3 SubmittersRCV000410009 RCV000412445 RCV002523884 RCV003475975
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)	SNV Germline	Chr7:92517968	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1 Heimler syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4341576	rs_149806989	7 SubmittersRCV000409397 RCV000411910 RCV000780585 RCV001376604 RCV002488843 RCV003475991 RCV005425947
NM_000466.3(PEX1):c.358-1G>T	SNV Germline	Chr7:92518256	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 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.348G>A (p.Trp116Ter)	SNV Germline	Chr7:92519004	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Single Submitter	CA16041175	rs_1057517487	2 SubmittersRCV000409324 RCV000411341 RCV006644555
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)	SNV Germline	Chr7:92528434	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA16041177	rs_766020928	3 SubmittersRCV000410653 RCV000411721 RCV002230732 RCV005044618
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:92528434	Pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder type 1A Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA4341711	rs_766020928	7 SubmittersRCV000410262 RCV000412294 RCV001250203 RCV001174676 RCV001232745 RCV005033925
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)	SNV Germline	Chr7:92528435	Pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA16041178	rs_1057517501	4 SubmittersRCV000409502 RCV000411873 RCV000598681 RCV001384497 RCV005033924
NM_000466.3(PEX1):c.1587+5T>C	SNV Germline	Chr7:92510939	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341370	rs_199526105	6 SubmittersRCV000730939 RCV001162173 RCV001277308
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)	SNV Germline	Chr6:42965262	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA138222058	rs_61753230	6 SubmittersRCV000802431 RCV004696954 RCV006640764 RCV002248804
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	16 SubmittersRCV000584993 RCV000591691 RCV000660395 RCV001083497 RCV001391319 RCV001578749 RCV003925755
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)	SNV Germline	Chr6:42969675	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA364155563	rs_1554127491	3 SubmittersRCV000589755 RCV006640769
NM_000287.4(PEX6):c.1233+1G>A	SNV Germline	Chr6:42969884	Likely pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders Heimler syndrome 2 Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 4A (Zellweger) Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA3811407	rs_763459576	5 SubmittersRCV000588951 RCV001834834 RCV003471937 RCV005034154
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	SNV Germline	Chr7:92494331	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Condition: not provided Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA4340941	rs_61750428	7 SubmittersRCV000590014 RCV000818703 RCV000984291 RCV000984292 RCV001783092 RCV002232225 RCV005392144
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	6 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.2060G>A (p.Arg687Gln)	SNV Germline	Chr7:92504743	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341225	rs_201443294	3 SubmittersRCV000598166 RCV002531017 RCV004752960
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_000287.4(PEX6):c.273G>A (p.Trp91Ter)	SNV Germline	Chr6:42978878	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA138238569	rs_1010184002	6 SubmittersRCV000597333 RCV000735223 RCV001384063 RCV003471954 RCV006640785
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_000287.4(PEX6):c.1884+3G>A	SNV Germline	Chr6:42967365	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811199	rs_377041406	5 SubmittersRCV000596762 RCV001351936 RCV001835870 RCV004553324
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 Peroxisome biogenesis disorder Heimler syndrome 2 Zellweger spectrum disorders Inborn genetic diseases PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811225	rs_146416679	8 SubmittersRCV000597689 RCV001049098 RCV001333352 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3811137	rs_748535121	5 SubmittersRCV000596492 RCV001051856 RCV001834900 RCV006362498
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	Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA3811650	rs_183449855	4 SubmittersRCV000593272 RCV001086149 RCV001158852 RCV001276742
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	5 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	Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) Zellweger spectrum disorders PEX6-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3811267	rs_138621982	7 SubmittersRCV000592165 RCV001068866 RCV001163662 RCV001829689 RCV004553344 RCV005384783
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu)	SNV Germline	Chr7:92489350	Conflicting classifications of pathogenicity	Zellweger spectrum disorders not specified	Criteria Provided Conflicting Classifications	CA368159552	rs_1473858573	2 SubmittersRCV000633315 RCV006459705
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)	SNV Germline	Chr6:42978492	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Heimler syndrome 2 not specified Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA138237883	rs_267608203	6 SubmittersRCV000656322 RCV000672728 RCV002534243 RCV003472050 RCV003488777 RCV006640815
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	SNV Germline	Chr7:92489304	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders not specified	Criteria Provided Conflicting Classifications	CA4340751	rs_553001596	3 SubmittersRCV000660614 RCV001451234 RCV005407851
NM_002617.4(PEX10):c.868C>G (p.His290Asp)	SNV Germline	Chr1:2406528	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA16942840	rs_61752094	4 SubmittersRCV000668280 RCV001221744 RCV003472095 RCV006642363
NM_002617.4(PEX10):c.912+1G>C	SNV Germline	Chr1:2406483	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Condition: not provided Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA337983985	rs_1553231739	6 SubmittersRCV000669958 RCV001784260 RCV003472121 RCV003653256 RCV006642397
NM_002617.4(PEX10):c.776+2T>C	SNV Germline	Chr1:2406718	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA337984924	rs_1335685844	3 SubmittersRCV000670741 RCV003472130 RCV006642416
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 Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3810958	rs_267608246	10 SubmittersRCV000666171 RCV001198918 RCV001242506 RCV001835075 RCV002477483 RCV003472077 RCV004547836
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)	SNV Germline	Chr6:42966044	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Condition: not provided Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA138222768	rs_267608240	8 SubmittersRCV000672227 RCV000780591 RCV001311716 RCV003472146 RCV004788099 RCV006642447
NM_000287.4(PEX6):c.1130+2T>C	SNV Germline	Chr6:42974001	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA364157934	rs_1416001981	3 SubmittersRCV000666516 RCV002532053 RCV006642341
NM_000287.4(PEX6):c.1962-1G>A	SNV Germline	Chr6:42966658	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA138223536	rs_267608229	7 SubmittersRCV000665084 RCV001280661 RCV002224971 RCV003472068 RCV005034234 RCV006640823
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 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2	Criteria Provided Conflicting Classifications	CA3811614	rs_778791031	7 SubmittersRCV000664899 RCV000731346 RCV001247917 RCV001835068 RCV002530640 RCV002485520
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)	SNV Germline	Chr6:42979116	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA138238795	rs_61752139	4 SubmittersRCV000673775 RCV002531343 RCV003472161 RCV006642478
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)	SNV Germline	Chr6:42965717	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Heimler syndrome 2 Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA3811017	rs_61753229	7 SubmittersRCV000670936 RCV000857244 RCV001379858 RCV003472131 RCV005034259 RCV006642421
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 Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	Criteria Provided Multiple Submitters No Conflicts	CA364151791	rs_1443107232	5 SubmittersRCV000666129 RCV001043607 RCV001276614 RCV003472076 RCV005046856
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	CA368204649	rs_1554376597	5 SubmittersRCV000674474 RCV001377626 RCV002499189 RCV003472170
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)	SNV Germline	Chr7:92528431	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA4341710	rs_762679408	5 SubmittersRCV000674254 RCV001201378 RCV003472166 RCV005034275
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	SNV Germline	Chr7:92493083	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA161954483	rs_954814470	7 SubmittersRCV000669293 RCV000729582 RCV001332474 RCV002531221 RCV003472113 RCV006452821
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	SNV Germline	Chr7:92493122	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368167099	rs_1484321655	4 SubmittersRCV000666769 RCV001004316 RCV001377622 RCV003472081
NM_000466.3(PEX1):c.2719-2A>G	SNV Germline	Chr7:92496779	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368171328	rs_1554369234	3 SubmittersRCV000668286 RCV002530739 RCV003472097
NM_000466.3(PEX1):c.2071+2T>C	SNV Germline	Chr7:92504730	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368182701	rs_1478905473	2 SubmittersRCV000668401 RCV003594017
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)	SNV Germline	Chr7:92506251	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders PEX1-related disorder Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4341272	rs_61750409	5 SubmittersRCV000665705 RCV001193608 RCV001868206 RCV003420172 RCV003472072
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)	SNV Germline	Chr7:92528435	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368207556	rs_1057517501	3 SubmittersRCV000667385 RCV001091386 RCV003767954
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	SNV Germline	Chr7:92494567	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4340993	rs_61750425	6 SubmittersRCV000672142 RCV001242973 RCV001662740 RCV003472144
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)	SNV Germline	Chr7:92507020	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA161966090	rs_61750407	5 SubmittersRCV000664531 RCV003594015 RCV003472062 RCV006268929
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)	SNV Germline	Chr7:92517946	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368201163	rs_1554375599	3 SubmittersRCV000665963 RCV001229220
NM_000466.3(PEX1):c.473-1G>A	SNV Germline	Chr7:92518043	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368201892	rs_1554375661	2 SubmittersRCV000673458 RCV006644621
NM_000466.3(PEX1):c.358-2A>C	SNV Germline	Chr7:92518257	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368202694	rs_1057517500	5 SubmittersRCV000670124 RCV001855537 RCV002477500 RCV004568536
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	SNV Germline	Chr8:76983806	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder 5B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4788719	rs_61752124	11 SubmittersRCV000664468 RCV000780588 RCV001053880 RCV001275871 RCV002281578 RCV003231574
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)	SNV Germline	Chr8:76983875	Likely pathogenic	Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Zellweger spectrum disorders	Criteria Provided Single Submitter	CA371557640	rs_200065382	2 SubmittersRCV000669502 RCV006642386
NM_000318.3(PEX2):c.782A>G (p.His261Arg)	SNV Germline	Chr8:76983397	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 5A (Zellweger) See cases Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4788654	rs_749956542	6 SubmittersRCV000674153 RCV001855605 RCV003156108 RCV005431869 RCV006642484
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)	SNV Germline	Chr7:92492955	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368165801	rs_1562846113	2 SubmittersRCV000680063 RCV001384961 RCV003472182
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)	SNV Germline	Chr6:42966802	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Heimler syndrome 2 Peroxisome biogenesis disorder 4B Zellweger spectrum disorders Autosomal recessive PEX6-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA3811176	rs_781475201	5 SubmittersRCV000698404 RCV003472225 RCV005034311 RCV006642527 RCV006554577
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	SNV Germline	Chr7:92494568	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA161955790	rs_866184460	5 SubmittersRCV000704649 RCV001580539 RCV003472246 RCV004796289
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	CA138227640	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	CA4788710	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	CA4341497	rs_138905930	4 SubmittersRCV000728121 RCV001363390 RCV004958062
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)	SNV Germline	Chr6:42969887	Conflicting classifications of pathogenicity	Condition: not provided Heimler syndrome 2 Peroxisome biogenesis disorder PEX6-related disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA3811409	rs_752177240	5 SubmittersRCV000728855 RCV001786416 RCV003330924 RCV004547922 RCV006642547
NM_000466.3(PEX1):c.1283C>T (p.Ala428Val)	SNV Germline	Chr7:92513924	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341445	rs_376883207	2 SubmittersRCV000729209 RCV001868939
NM_000466.3(PEX1):c.23C>A (p.Ala8Glu)	SNV Germline	Chr7:92528413	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341705	rs_537242377	2 SubmittersRCV000729269 RCV002535112
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)	SNV Germline	Chr7:92491494	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders not specified PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340868	rs_140963147	9 SubmittersRCV000730111 RCV001082990 RCV001275213 RCV001816798 RCV003953310
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr)	SNV Germline	Chr7:92503183	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341209	rs_112747515	2 SubmittersRCV000730317 RCV001855635
NM_000466.3(PEX1):c.3031-9T>C	SNV Germline	Chr7:92493138	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA161954534	rs_113162185	3 SubmittersRCV000730318 RCV002536443
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)	SNV Germline	Chr7:92502038	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA456482968	rs_1434174453	3 SubmittersRCV000730319 RCV001448407 RCV003983187
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)	SNV Germline	Chr8:76983481	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders Inborn genetic diseases PEX2-related disorder	Criteria Provided Conflicting Classifications	CA4788666	rs_200868032	7 SubmittersRCV000731121 RCV001061646 RCV001825465 RCV002535189 RCV004748937
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)	SNV Germline	Chr7:92517473	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341502	rs_371309198	3 SubmittersRCV000731755 RCV001164201 RCV001454268
NM_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	CA450366242	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	CA4340987	rs_200663477	5 SubmittersRCV000732143 RCV001193611 RCV001504524 RCV003965534
NM_000466.3(PEX1):c.1434T>G (p.Leu478=)	SNV Germline	Chr7:92511629	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341402	rs_757668497	3 SubmittersRCV000732191 RCV001087466
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)	SNV Germline	Chr6:42967478	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger)	Criteria Provided Conflicting Classifications	CA3811222	rs_375288192	5 SubmittersRCV000732195 RCV001830618 RCV001245942 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	CA538178	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	CA138237512	rs_757897959	4 SubmittersRCV000732962 RCV001474745 RCV001731914 RCV001835944
NM_000466.3(PEX1):c.889A>G (p.Ile297Val)	SNV Germline	Chr7:92517626	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341527	rs_181796768	3 SubmittersRCV000733464 RCV001277313
NM_000466.3(PEX1):c.2646G>A (p.Pro882=)	SNV Germline	Chr7:92499776	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders not specified	Criteria Provided Conflicting Classifications	CA4341062	rs_775421085	3 SubmittersRCV000734198 RCV001478727 RCV005436041
NM_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 Peroxisome biogenesis disorder Heimler syndrome 2 PEX6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA138224585	rs_61753225	8 SubmittersRCV000779505 RCV001576829 RCV001825519 RCV002535657 RCV003472310 RCV004549856
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)	SNV Germline	Chr6:42978981	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Heimler syndrome 2 PEX6-related disorder Heimler syndrome 2 Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 4A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA138238675	rs_61752140	5 SubmittersRCV000778791 RCV003472309 RCV004549851 RCV005036108 RCV006642592
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)	SNV Germline	Chr7:92501938	Pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders Heimler syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4341148	rs_61750417	5 SubmittersRCV000780584 RCV000798670 RCV003472313 RCV005633680
NM_000466.3(PEX1):c.1900+2T>C	SNV Germline	Chr7:92506246	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368184509	rs_1562857198	4 SubmittersRCV000780587 RCV001377624 RCV001570534
NM_000466.3(PEX1):c.130-2A>G	SNV Germline	Chr7:92522247	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368205303	rs_1585260993	3 SubmittersRCV001091385 RCV001796215 RCV005614447
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)	SNV Germline	Chr7:92517352	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368197640	rs_1585254187	1 SubmittersRCV002234193
NM_000466.3(PEX1):c.2783+2T>C	SNV Germline	Chr7:92496711	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368170746	rs_1585224312	2 SubmittersRCV001830708
NM_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 Condition: not provided	Criteria Provided Conflicting Classifications	CA4788637	rs_544763390	5 SubmittersRCV000970645 RCV001276113 RCV001578803 RCV003905995 RCV005633783
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)	SNV Germline	Chr7:92501532	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4341104	rs_143283146	3 SubmittersRCV001277305 RCV002540751
NM_000466.3(PEX1):c.147G>A (p.Val49=)	SNV Germline	Chr7:92522228	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Heimler syndrome 1 Condition: not provided PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341673	rs_202230667	7 SubmittersRCV000904646 RCV001277316 RCV001578708 RCV001578707 RCV001729741 RCV003958200
NM_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	CA3811357	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	CA456484175	rs_1445565547	2 SubmittersRCV001162273 RCV001500195
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)	SNV Germline	Chr7:92518210	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA161974140	rs_201415996	6 SubmittersRCV001004522 RCV001030786 RCV001784534 RCV001869414
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter)	SNV Germline	Chr7:92513867	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368192451	rs_1585248089	2 SubmittersRCV001004517 RCV006642726
NM_000466.3(PEX1):c.130-1G>T	SNV Germline	Chr7:92522246	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA161978977	rs_1028247729	3 SubmittersRCV001004525 RCV001378209 RCV002290989 RCV004569849
NM_000466.3(PEX1):c.1483+1G>A	SNV Germline	Chr7:92511579	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368190525	rs_1585244586	3 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	CA538168	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) Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 See cases Heimler syndrome 2 Peroxisome biogenesis disorder 4B	Criteria Provided Multiple Submitters No Conflicts	CA3810920	rs_62641232	7 SubmittersRCV001049060 RCV001274622 RCV001823180 RCV002479299 RCV003156137 RCV003473637 RCV005241422
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)	SNV Germline	Chr7:92501625	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA161960026	rs_545731416	3 SubmittersRCV001827334 RCV005702397
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)	SNV Germline	Chr7:92502010	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Condition: not provided PEX1-related disorder	Criteria Provided Conflicting Classifications	CA161960410	rs_374010060	4 SubmittersRCV001832483 RCV003480928 RCV004753183
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter)	SNV Germline	Chr7:92506331	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368185381	rs_1792186595	1 SubmittersRCV001047697
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)	SNV Germline	Chr7:92507097	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4341318	rs_199989676	3 SubmittersRCV001833649 RCV004960426
NM_000466.3(PEX1):c.1900+1G>A	SNV Germline	Chr7:92506247	Pathogenic/Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA4341271	rs_770447891	2 SubmittersRCV001036555
NM_000466.3(PEX1):c.2226+2T>C	SNV Germline	Chr7:92503039	Pathogenic	Condition: not provided Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368180920	rs_1792005848	2 SubmittersRCV001090901 RCV006636620
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)	SNV Germline	Chr7:92489418	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340763	rs_777384403	3 SubmittersRCV001159089 RCV001476481 RCV003908411
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)	SNV Germline	Chr7:92489807	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340800	rs_374673391	2 SubmittersRCV001160447 RCV001419799
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)	SNV Germline	Chr7:92492965	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340892	rs_768417678	3 SubmittersRCV001162081 RCV001423195
NM_000466.3(PEX1):c.3637-14T>C	SNV Germline	Chr7:92489437	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340768	rs_745612436	2 SubmittersRCV001160446 RCV002070981
NM_000466.3(PEX1):c.2927-8T>C	SNV Germline	Chr7:92494404	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340960	rs_778618662	2 SubmittersRCV001164104 RCV001394600
NM_000466.3(PEX1):c.1901-14T>C	SNV Germline	Chr7:92504916	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA1139660136	rs_1792111444	3 SubmittersRCV001160558 RCV002483910 RCV003759000
NM_000466.3(PEX1):c.1804-12A>G	SNV Germline	Chr7:92506356	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA161965655	rs_143041528	2 SubmittersRCV001160559 RCV002070986
NM_000466.3(PEX1):c.1671-13A>G	SNV Germline	Chr7:92507139	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341327	rs_757960956	2 SubmittersRCV001162172 RCV002071012
NM_000466.3(PEX1):c.2071+1G>T	SNV Germline	Chr7:92504731	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders Condition: not provided Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA161964536	rs_267608177	4 SubmittersRCV001193609 RCV001377623 RCV003313184 RCV003473732
NM_000287.4(PEX6):c.543G>A (p.Val181=)	SNV Germline	Chr6:42978608	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder Zellweger spectrum disorders Condition: not provided PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811606	rs_368560418	4 SubmittersRCV001223288 RCV001833933 RCV003132291 RCV004738198
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)	SNV Germline	Chr7:92501611	Pathogenic	Zellweger spectrum disorders PEX1-related disorder Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368175932	rs_1232449804	4 SubmittersRCV001206563 RCV003983849 RCV004570441
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 Heimler syndrome 2 Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger)	Criteria Provided Conflicting Classifications	CA3811146	rs_267608230	5 SubmittersRCV001248070 RCV001836248 RCV002480855 RCV003473835 RCV004697090
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	CA3811291	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 not specified	Criteria Provided Conflicting Classifications	CA4341198	rs_141510219	9 SubmittersRCV001247525 RCV001250066 RCV003393917 RCV003481031 RCV004034895 RCV006266663
NM_000466.3(PEX1):c.3208-3T>C	SNV Germline	Chr7:92491505	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1	Criteria Provided Conflicting Classifications	CA4340872	rs_763767937	3 SubmittersRCV001237503 RCV004727025
NM_000287.4(PEX6):c.882+1G>A	SNV Germline	Chr6:42978268	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA138237421	rs_267608207	5 SubmittersRCV001250531 RCV002570424 RCV004570641 RCV005040100 RCV006636749
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 Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3810989	rs_61753231	6 SubmittersRCV001265583 RCV001309121 RCV001830065 RCV003473843 RCV005038022 RCV004699248
NM_000287.4(PEX6):c.1236G>A (p.Val412=)	SNV Germline	Chr6:42969799	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Peroxisome biogenesis disorder Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	Criteria Provided Conflicting Classifications	CA450366124	rs_1196012985	3 SubmittersRCV001280381 RCV001871606 RCV002486073
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)	SNV Germline	Chr7:92517617	Conflicting classifications of pathogenicity	Zellweger spectrum disorders PEX1-related disorder Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA4341522	rs_751506204	5 SubmittersRCV001296754 RCV003898288 RCV005394910 RCV006279545
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val)	SNV Germline	Chr6:42965255	Pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Single Submitter	CA3810987	rs_764227040	2 SubmittersRCV001318814 RCV001830322
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg)	SNV Germline	Chr7:92506338	Conflicting classifications of pathogenicity	Zellweger spectrum disorders not specified	Criteria Provided Conflicting Classifications	CA4341283	rs_148427398	3 SubmittersRCV001327743 RCV004699309
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln)	SNV Germline	Chr7:92507055	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Condition: not provided	Criteria Provided Conflicting Classifications	CA4341312	rs_370483961	3 SubmittersRCV001324387 RCV001760414
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)	SNV Germline	Chr7:92517712	Conflicting classifications of pathogenicity	Zellweger spectrum disorders PEX1-related disorder Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA4341536	rs_780119112	5 SubmittersRCV001316857 RCV003898302 RCV005394937 RCV006279576
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)	SNV Germline	Chr1:2408833	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA337989072	rs_531987102	3 SubmittersRCV001904736 RCV003475123 RCV006639008
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 1B Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Conflicting Classifications	CA4341552	rs_753823218	3 SubmittersRCV001339992 RCV002476567
NM_000466.3(PEX1):c.3207+1G>C	SNV Germline	Chr7:92492952	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA161954270	rs_267608181	2 SubmittersRCV001377621 RCV003473904
NM_000466.3(PEX1):c.2583+1G>T	SNV Germline	Chr7:92501506	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA4341103	rs_771586413	1 SubmittersRCV001379083
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)	SNV Germline	Chr1:2406793	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA337985354	rs_1295555837	3 SubmittersRCV001382957 RCV003473942 RCV006636913
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter)	SNV Germline	Chr6:42978404	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA364162342	rs_1770400284	3 SubmittersRCV001387078 RCV003473976 RCV006636980
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)	SNV Germline	Chr7:92489900	Pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368162260	rs_1459743428	2 SubmittersRCV001382765 RCV003473940
NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter)	SNV Germline	Chr7:92491409	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368164174	rs_2116059303	1 SubmittersRCV001390901
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)	SNV Germline	Chr7:92493123	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA368167101	rs_1791439311	4 SubmittersRCV001380782 RCV003473928 RCV003984857
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter)	SNV Germline	Chr7:92511607	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368190734	rs_2116209376	1 SubmittersRCV001380151
NM_000466.3(PEX1):c.130-2A>T	SNV Germline	Chr7:92522247	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA368205304	rs_1585260993	3 SubmittersRCV001420907 RCV001859336 RCV006635973
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	SNV Germline	Chr7:92492994	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1	Criteria Provided Conflicting Classifications	CA161954341	rs_1009877821	3 SubmittersRCV001496742 RCV001578741 RCV001578742 RCV001578740
NM_000466.3(PEX1):c.223G>A (p.Glu75Lys)	SNV Germline	Chr7:92522152	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4341667	rs_759993457	2 SubmittersRCV001478690 RCV005702578
NM_000466.3(PEX1):c.2227-11T>A	SNV Germline	Chr7:92502090	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders PEX1-related Peroxisomal Biogenesis Disorder	Criteria Provided Conflicting Classifications	CA4341176	rs_760316851	3 SubmittersRCV001752339 RCV005095010 RCV005645295
NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter)	SNV Germline	Chr7:92511652	Pathogenic/Likely pathogenic	Condition: not provided Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA161968969	rs_758402265	2 SubmittersRCV001782596 RCV001885188
NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter)	SNV Germline	Chr7:92507002	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368187163	rs_1792222710	1 SubmittersRCV001919330
NM_000466.3(PEX1):c.3483G>C (p.Leu1161Phe)	SNV Germline	Chr7:92489867	Conflicting classifications of pathogenicity	Zellweger spectrum disorders PEX1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4340810	rs_375607384	3 SubmittersRCV001979003 RCV004753446 RCV005382296
NM_000466.3(PEX1):c.3438+1G>A	SNV Germline	Chr7:92491271	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368163237	rs_1554367284	1 SubmittersRCV002017918
NM_000466.3(PEX1):c.357+1G>C	SNV Germline	Chr7:92518994	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368202817	rs_866144313	1 SubmittersRCV002017935
NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter)	SNV Germline	Chr7:92507125	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368188022	rs_2116181877	1 SubmittersRCV001941647
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter)	SNV Germline	Chr8:76984088	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA179988285	rs_149287302	2 SubmittersRCV001960587 RCV006644774
NM_000466.3(PEX1):c.357+1G>T	SNV Germline	Chr7:92518994	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA161974656	rs_866144313	5 SubmittersRCV001999185 RCV002486589 RCV003475275 RCV006635982
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)	SNV Germline	Chr7:92503105	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368181595	rs_1792013985	1 SubmittersRCV001901725
NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter)	SNV Germline	Chr7:92501574	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368175468	rs_2116145324	1 SubmittersRCV001892269
NM_000466.3(PEX1):c.2719-1G>A	SNV Germline	Chr7:92496778	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368171311	rs_1791673946	2 SubmittersRCV002030082
NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter)	SNV Germline	Chr7:92513865	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368192431	rs_1467651370	2 SubmittersRCV001946843 RCV003475231
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter)	SNV Germline	Chr7:92517560	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368198797	rs_2116244185	2 SubmittersRCV001909016 RCV003475157
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter)	SNV Germline	Chr7:92517908	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368200943	rs_1472300213	1 SubmittersRCV001949325
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter)	SNV Germline	Chr7:92528402	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368207489	rs_1793402720	1 SubmittersRCV001949339
NM_000466.3(PEX1):c.3678A>T (p.Arg1226Ser)	SNV Germline	Chr7:92489382	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA368159974	rs_1173172739	2 SubmittersRCV001872347 RCV006362660
NM_000287.4(PEX6):c.2589-1G>T	SNV Germline	Chr6:42965153	Likely pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA364150806	rs_2114237186	2 SubmittersRCV002029320 RCV006640859
NM_000466.3(PEX1):c.88C>T (p.His30Tyr)	SNV Germline	Chr7:92528348	Conflicting classifications of pathogenicity	Zellweger spectrum disorders PEX1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4341697	rs_375045292	4 SubmittersRCV001984463 RCV003407977 RCV004770292 RCV005382291
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)	SNV Germline	Chr6:42964862	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA3810921	rs_374549180	4 SubmittersRCV002021081 RCV005042690 RCV006640860
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter)	SNV Germline	Chr7:92504840	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368183711	rs_2116165809	1 SubmittersRCV001948822
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro)	SNV Germline	Chr7:92493122	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368167097	rs_1484321655	1 SubmittersRCV001998051
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)	SNV Germline	Chr6:42965078	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) not specified Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA364150543	rs_267608247	6 SubmittersRCV002244512 RCV003093952 RCV003223433 RCV003324006 RCV006640901
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)	SNV Germline	Chr7:92517416	Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA368198079	rs_140990231	2 SubmittersRCV006640941 RCV006695112
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)	SNV Germline	Chr7:92522170	Pathogenic/Likely pathogenic	Heimler syndrome 1 Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA368204940	rs_1469341456	4 SubmittersRCV003475336 RCV003594184 RCV005042801 RCV006695466
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)	SNV Germline	Chr7:92491399	Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA368164077	rs_2484621318	2 SubmittersRCV006644814 RCV006695476
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	CA6426284	rs_267608194	2 SubmittersRCV003037442 RCV004017960
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)	SNV Germline	Chr8:76983865	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA179988274	rs_1011185031	4 SubmittersRCV003087553 RCV005045264 RCV006644858
NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)	SNV Germline	Chr7:92517967	Conflicting classifications of pathogenicity	Inborn genetic diseases Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA161973896	rs_371413721	2 SubmittersRCV003072731 RCV003085908
NM_000466.3(PEX1):c.3637-1G>A	SNV Germline	Chr7:92489424	Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368160510	rs_2484610293	3 SubmittersRCV002586445 RCV003475396
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)	SNV Germline	Chr7:92517638	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368199261	rs_1792857897	2 SubmittersRCV002583240 RCV003475395
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)	SNV Germline	Chr7:92511688	Pathogenic/Likely pathogenic	Heimler syndrome 1 Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368191489	rs_2484687761	3 SubmittersRCV004571247 RCV002794871 RCV005034411
NM_000466.3(PEX1):c.1359+1G>C	SNV Germline	Chr7:92513847	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368192270	rs_2484692157	1 SubmittersRCV002838808
NM_000466.3(PEX1):c.3767+2T>C	SNV Germline	Chr7:92489291	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368158994	rs_745692619	1 SubmittersRCV002838198
NM_000466.3(PEX1):c.2072-1G>A	SNV Germline	Chr7:92503196	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368182361	rs_776263154	1 SubmittersRCV002857840
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)	SNV Germline	Chr7:92517682	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368199544	rs_2484703148	1 SubmittersRCV002912654
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)	SNV Germline	Chr7:92517467	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368198403	rs_1792847005	1 SubmittersRCV002899352
NM_000466.3(PEX1):c.2784-1G>C	SNV Germline	Chr7:92494630	Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368170284	rs_2484638988	2 SubmittersRCV002996430 RCV003475459
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)	SNV Germline	Chr7:92504753	Pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA368182924	rs_2484668233	3 SubmittersRCV003010320 RCV005034580
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)	SNV Germline	Chr7:92491301	Pathogenic/Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368163370	rs_2484620768	2 SubmittersRCV003029094
NM_000466.3(PEX1):c.273+2T>G	SNV Germline	Chr7:92522100	Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368204640	rs_1793074319	2 SubmittersRCV003030631 RCV003475474
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)	SNV Germline	Chr7:92501670	Pathogenic/Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368176603	rs_2484660560	2 SubmittersRCV003047646
NM_000466.3(PEX1):c.3031-1G>A	SNV Germline	Chr7:92493130	Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368167139	rs_2484629571	2 SubmittersRCV003044847 RCV003475482
NM_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	CA343263096	rs_2525316064	2 SubmittersRCV003131168 RCV004017971
NM_000287.4(PEX6):c.2314G>T (p.Glu772Ter)	SNV Germline	Chr6:42966092	Likely pathogenic	Condition: not provided Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA364151973	rs_2481205835	2 SubmittersRCV003328778 RCV006641348
NM_002617.4(PEX10):c.777-1G>A	SNV Germline	Chr1:2406620	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA337984860	rs_2522257720	2 SubmittersRCV003476790 RCV006642916
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)	SNV Germline	Chr1:2406750	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA538051	rs_571178917	3 SubmittersRCV003476794 RCV003779067 RCV006642917
NM_000287.4(PEX6):c.2807-2A>G	SNV Germline	Chr6:42964473	Pathogenic/Likely pathogenic	Heimler syndrome 2 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA138220926	rs_267608251	2 SubmittersRCV003476826 RCV006642918
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)	SNV Germline	Chr7:92489369	Pathogenic/Likely pathogenic	Heimler syndrome 1 Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA368159802	rs_1393663701	3 SubmittersRCV003476744 RCV003759875 RCV005047599
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)	SNV Germline	Chr7:92489845	Pathogenic/Likely pathogenic	Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368161789	rs_2484613318	2 SubmittersRCV003476751 RCV003759876
NM_000466.3(PEX1):c.1652T>A (p.Leu551Ter)	SNV Germline	Chr7:92509347	Likely pathogenic	Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368188260	rs_2484681972	2 SubmittersRCV003476769 RCV006642914
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)	SNV Germline	Chr7:92501998	Pathogenic/Likely pathogenic	Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368177961	rs_751076530	2 SubmittersRCV003476779 RCV003594694
NM_000466.3(PEX1):c.829C>T (p.Gln277Ter)	SNV Germline	Chr7:92517686	Pathogenic/Likely pathogenic	Condition: not provided Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368199569	rs_1792861698	2 SubmittersRCV003480437 RCV005100305
NM_000466.3(PEX1):c.3439-2A>G	SNV Germline	Chr7:92489913	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368162390	rs_2484613798	1 SubmittersRCV003594789
NM_000466.3(PEX1):c.2227-1G>C	SNV Germline	Chr7:92502080	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368178885	rs_2484662083	1 SubmittersRCV003594957
NM_002617.4(PEX10):c.3G>A (p.Met1Ile)	SNV Germline	Chr1:2412500	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA337990813	rs_1393899190	2 SubmittersRCV003535141 RCV006643056
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)	SNV Germline	Chr7:92517351	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA161973254	rs_910803999	1 SubmittersRCV003593732
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)	SNV Germline	Chr7:92494625	Pathogenic/Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368170245	rs_1791556897	2 SubmittersRCV003594538
NM_000466.3(PEX1):c.2718+1G>A	SNV Germline	Chr7:92499703	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368173067	rs_2484655081	1 SubmittersRCV003760858
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)	SNV Germline	Chr7:92517564	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA368198818	rs_2484702728	3 SubmittersRCV003760871 RCV005047742
NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)	SNV Germline	Chr7:92517721	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA368199804	rs_2484703325	3 SubmittersRCV003758351 RCV006686062
NM_000466.3(PEX1):c.1901-2A>G	SNV Germline	Chr7:92504904	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368184294	rs_2484669193	2 SubmittersRCV003758368
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)	SNV Germline	Chr7:92517488	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368198495	rs_2484702514	1 SubmittersRCV003758359
NM_000466.3(PEX1):c.2416+1G>A	SNV Germline	Chr7:92501889	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368176775	rs_2484661382	1 SubmittersRCV003758640
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)	SNV Germline	Chr7:92506293	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368184912	rs_2484673537	1 SubmittersRCV003758675
NM_000466.3(PEX1):c.1901-1G>T	SNV Germline	Chr7:92504903	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368184286	rs_1792111046	1 SubmittersRCV003759252
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)	SNV Germline	Chr7:92517276	Pathogenic/Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA161973191	rs_267608175	2 SubmittersRCV003759626
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)	SNV Germline	Chr7:92517959	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368201253	rs_1294268789	1 SubmittersRCV003760242
NM_000466.3(PEX1):c.1587+1G>T	SNV Germline	Chr7:92510943	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368188668	rs_1057517469	1 SubmittersRCV003825119
NM_000466.3(PEX1):c.2417-1G>T	SNV Germline	Chr7:92501674	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368176649	rs_1365047750	1 SubmittersRCV003824134
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)	SNV Germline	Chr7:92503121	Pathogenic/Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368181691	rs_1792014859	2 SubmittersRCV003874237
NM_002617.4(PEX10):c.882G>A (p.Trp294Ter)	SNV Germline	Chr1:2406514	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts		rs_2522256455	3 SubmittersRCV004574499 RCV005100917 RCV006637076
NM_002617.4(PEX10):c.913-1G>A	SNV Germline	Chr1:2405835	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts		rs_752506584	2 SubmittersRCV004574500 RCV006637077
NM_002617.4(PEX10):c.194-2A>G	SNV Germline	Chr1:2408860	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Zellweger spectrum disorders	Criteria Provided Single Submitter			2 SubmittersRCV004776489 RCV005610732
NM_000466.3(PEX1):c.244C>T (p.Gln82Ter)	SNV Germline	Chr7:92522131	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV005118968
NM_000466.3(PEX1):c.2527G>A (p.Gly843Ser)	SNV Germline	Chr7:92501563	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV005200430
NM_000466.3(PEX1):c.231C>A (p.Asn77Lys)	SNV Germline	Chr7:92522144	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV005200434
NM_000466.3(PEX1):c.3316C>T (p.Gln1106Ter)	SNV Germline	Chr7:92491394	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV005611323
NM_000466.3(PEX1):c.640C>T (p.Gln214Ter)	SNV Germline	Chr7:92517875	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV005611331
NM_000466.3(PEX1):c.2909G>C (p.Gly970Ala)	SNV Germline	Chr7:92494504	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV005611332
NM_000466.3(PEX1):c.1407G>A (p.Trp469Ter)	SNV Germline	Chr7:92511656	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV005611347
NM_000287.4(PEX6):c.2131C>T (p.Gln711Ter)	SNV Germline	Chr6:42966411	Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006637374 RCV005938365
NM_000466.3(PEX1):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr7:92517485	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006518757
NM_002617.4(PEX10):c.567C>A (p.Tyr189Ter)	SNV Germline	Chr1:2408485	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006641968
NM_002617.4(PEX10):c.60C>A (p.Tyr20Ter)	SNV Germline	Chr1:2412443	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006641969
NM_002617.4(PEX10):c.601-5T>A	SNV Germline	Chr1:2406900	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006641970
NM_002617.4(PEX10):c.776+1G>T	SNV Germline	Chr1:2406719	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006641972
NM_000318.3(PEX2):c.392C>G (p.Ser131Ter)	SNV Germline	Chr8:76983787	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638376
NM_000466.3(PEX1):c.1058T>A (p.Leu353Ter)	SNV Germline	Chr7:92517457	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645108
NM_000466.3(PEX1):c.1239+1G>C	SNV Germline	Chr7:92517275	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638479
NM_000466.3(PEX1):c.1803+2T>C	SNV Germline	Chr7:92506992	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638484
NM_000466.3(PEX1):c.1958G>A (p.Trp653Ter)	SNV Germline	Chr7:92504845	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638490
NM_000466.3(PEX1):c.1A>G (p.Met1Val)	SNV Germline	Chr7:92528435	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638491
NM_000466.3(PEX1):c.2226+1G>T	SNV Germline	Chr7:92503040	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645110
NM_000466.3(PEX1):c.2416+1G>T	SNV Germline	Chr7:92501889	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645111
NM_000466.3(PEX1):c.2659A>T (p.Lys887Ter)	SNV Germline	Chr7:92499763	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638492
NM_000466.3(PEX1):c.2716A>T (p.Lys906Ter)	SNV Germline	Chr7:92499706	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645113
NM_000466.3(PEX1):c.3028C>T (p.Gln1010Ter)	SNV Germline	Chr7:92494295	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645115
NM_000466.3(PEX1):c.3037C>G (p.Arg1013Gly)	SNV Germline	Chr7:92493123	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645116
NM_000466.3(PEX1):c.3378C>G (p.Tyr1126Ter)	SNV Germline	Chr7:92491332	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638495
NM_000466.3(PEX1):c.3628C>T (p.Gln1210Ter)	SNV Germline	Chr7:92489722	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638496
NM_000466.3(PEX1):c.3701T>A (p.Leu1234Ter)	SNV Germline	Chr7:92489359	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645122
NM_000466.3(PEX1):c.466C>T (p.Gln156Ter)	SNV Germline	Chr7:92518147	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645125
NM_000466.3(PEX1):c.473-1G>T	SNV Germline	Chr7:92518043	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645126
NM_000466.3(PEX1):c.532C>T (p.Gln178Ter)	SNV Germline	Chr7:92517983	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006645127
NM_000287.4(PEX6):c.1234-1G>A	SNV Germline	Chr6:42969802	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638329
NM_000287.4(PEX6):c.2094+2T>C	SNV Germline	Chr6:42966523	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638333
NM_000287.4(PEX6):c.2338C>T (p.Gln780Ter)	SNV Germline	Chr6:42966068	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638335
NM_000287.4(PEX6):c.2588+1G>C	SNV Germline	Chr6:42965251	Likely pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638337
NM_000287.4(PEX6):c.2666+2T>C	SNV Germline	Chr6:42965073	Pathogenic	Zellweger spectrum disorders	Criteria Provided Single Submitter			1 SubmittersRCV006638339

SNV
Germline

Chr1:2408451

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118503

rs_267608183

9 SubmittersRCV000007172 RCV000519441 RCV000817369 RCV000983989 RCV001174563 RCV001273137 RCV002476939 RCV005887335

NM_002617.4(PEX10):c.870C>G (p.His290Gln)

SNV
Germline

Chr1:2406526

Likely pathogenic

Peroxisome biogenesis disorder 6B
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA118504

rs_61752095

2 SubmittersRCV000007173 RCV006638580

NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)

SNV
Germline

Chr1:2408679

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118506

rs_61750434

6 SubmittersRCV000007174 RCV000670577 RCV001058978 RCV002222345 RCV003472994 RCV006638581

NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)

SNV
Germline

Chr7:92501562

Pathogenic

Peroxisome biogenesis disorder
Leber congenital amaurosis
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisomal disorder
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

43 SubmittersRCV000007946 RCV000022416 RCV000032927 RCV000078922 RCV000345695 RCV000661947 RCV001004322 RCV000763596 RCV000791271 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
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
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_000287.4(PEX6):c.1130+1G>A

SNV
Germline

Chr6:42974002

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138230735

rs_267608213

3 SubmittersRCV000008592 RCV001239904 RCV005606632

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123377

rs_61752123

11 SubmittersRCV000014703 RCV000032924 RCV000589554 RCV001275872 RCV002223176 RCV002496363 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

5 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

9 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)
Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA146663

rs_71560821

9 SubmittersRCV000078927 RCV000358779 RCV001200182 RCV001507135

NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)

SNV
Germline

Chr7:92517841

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA220984

rs_372485912

5 SubmittersRCV000078930 RCV001246411

NM_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

14 SubmittersRCV000117903 RCV000262649 RCV000435678 RCV001082068 RCV001578657 RCV001835683

NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)

SNV
Germline

Chr1:2406566

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA175037

rs_724160000

8 SubmittersRCV000149810 RCV000675117 RCV001206752 RCV003133148 RCV003474799 RCV006638880

NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)

SNV
Germline

Chr1:2405815

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA175039

rs_724160001

7 SubmittersRCV000149811 RCV000675089 RCV000728635 RCV001246837 RCV003474800 RCV006638881

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

SNV
Germline

Chr1:2406766

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA175042

rs_61752092

7 SubmittersRCV000149813 RCV000666851 RCV000677268 RCV001208724 RCV001844050 RCV001831930 RCV006277719

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274236

rs_267608180

9 SubmittersRCV000169385 RCV001250202 RCV001215871 RCV002307427 RCV002291587 RCV003474911 RCV005031695

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

SNV
Germline

Chr7:92494486

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder
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

10 SubmittersRCV000599041 RCV001194281 RCV001332473 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
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA274065

rs_61750418

9 SubmittersRCV000169227 RCV000657614 RCV001004323 RCV001220088 RCV002265653 RCV003474901 RCV005031692

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

SNV
Germline

Chr7:92528433

Pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA274384

rs_786204704

2 SubmittersRCV000169518 RCV003593925

NM_000466.3(PEX1):c.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
Heimler syndrome 2
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B

Criteria Provided
Conflicting Classifications

CA239465

rs_142899308

7 SubmittersRCV000173992 RCV000404054 RCV001083109 RCV001276732 RCV002517668 RCV004552959 RCV005396525

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

SNV
Germline

Chr6:42965712

Pathogenic

Condition: not provided
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder
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 SubmittersRCV000657597 RCV000667668 RCV000802432 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 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder, complementation group 7
Peroxisome biogenesis disorder 6A (Zellweger)
Zellweger spectrum disorders
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA245491

rs_61736380

9 SubmittersRCV000178398 RCV000763844 RCV001034401 RCV001097563 RCV001272159 RCV003977464

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

Criteria Provided
Conflicting Classifications

CA203013

rs_142018583

6 SubmittersRCV000178774 RCV000906584 RCV001507201 RCV006439711

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.1802G>A (p.Arg601Gln)

SNV
Germline

Chr6:42967450

Conflicting classifications of pathogenicity

not specified
Heimler syndrome 2
Condition: not provided
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Heimler syndrome 2
Retinal dystrophy
Peroxisome biogenesis disorder
PEX6-related disorder
Peroxisome biogenesis disorder 4B
Prelingual sensorineural hearing impairment
Inborn genetic diseases
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA210643

rs_34324426

30 SubmittersRCV000180127 RCV000201298 RCV000424129 RCV000675148 RCV000779504 RCV000850505 RCV001075628 RCV001081170 RCV001265584 RCV003987426 RCV006699226 RCV006659257 RCV006730259

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210642

rs_61753219

13 SubmittersRCV000201297 RCV000666553 RCV000622824 RCV000735222 RCV001193476 RCV001276623 RCV001808558 RCV002243878 RCV004737319 RCV005031753

NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)

SNV
Germline

Chr6:42966813

Conflicting classifications of pathogenicity

Heimler syndrome 2
not specified
Peroxisome biogenesis disorder
PEX6-related disorder
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Heimler syndrome 2
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA210645

rs_769896492

6 SubmittersRCV000201306 RCV001328449 RCV001853224 RCV004737320 RCV005031754 RCV006640455

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

SNV
Germline

Chr7:92503153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA279184

rs_863225084

6 SubmittersRCV000201290 RCV001075286 RCV003417729 RCV002517304 RCV004701263 RCV006694778

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210121

rs_756876301

10 SubmittersRCV000201308 RCV000633316 RCV001004518 RCV001376605 RCV001526999 RCV001795328 RCV003422106 RCV005031756

NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)

SNV
Germline

Chr6:42967537

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10575897

rs_61753224

6 SubmittersRCV000240689 RCV001795343 RCV002500674 RCV006640475

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

SNV
Germline

Chr7:92494357

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4340947

rs_61750427

10 SubmittersRCV000240787 RCV001004317 RCV002229187 RCV002251446 RCV002515571 RCV003226251 RCV005042454

NM_002617.4(PEX10):c.776+1G>C

SNV
Germline

Chr1:2406719

Pathogenic/Likely pathogenic

Inborn genetic diseases
Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA358179

rs_869312935

3 SubmittersRCV000210672 RCV002515587 RCV006640477

NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)

SNV
Germline

Chr7:92487499

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340719

rs_139054881

5 SubmittersRCV000239086 RCV000886828 RCV001507190 RCV003939908

NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)

SNV
Germline

Chr7:92499808

Pathogenic

Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Abnormality of metabolism/homeostasis
See cases
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4341072

rs_61750422

12 SubmittersRCV000254886 RCV001004321 RCV001063888 RCV001260325 RCV001376587 RCV001814132 RCV002252071 RCV003475860

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

SNV
Germline

Chr1:2412502

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602763

rs_886041314

6 SubmittersRCV000341916 RCV000666568 RCV001385998 RCV001828171 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
Zellweger spectrum disorders
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA10604149

rs_62641225

5 SubmittersRCV000289565 RCV001381855 RCV001833319 RCV003155147 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

7 SubmittersRCV000283658 RCV000764728 RCV001275210

NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)

SNV
Germline

Chr7:92494571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340995

rs_374167385

6 SubmittersRCV000304199 RCV000311034 RCV001240601 RCV003930068

NM_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
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4340902

rs_754130942

6 SubmittersRCV000350916 RCV001277300 RCV002480020 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)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Condition: not provided
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA3811549

rs_61753220

8 SubmittersRCV000344101 RCV000387310 RCV000709968 RCV001276622 RCV002225576 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
Zellweger spectrum disorders
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4341414

rs_371890000

7 SubmittersRCV000268203 RCV001080221 RCV001336887 RCV001277309 RCV004816504

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
Malignant tumor of urinary bladder
Lung cancer

Criteria Provided
Conflicting Classifications

CA537953

rs_374891812

5 SubmittersRCV000393024 RCV001082724 RCV001101219 RCV001277100 RCV005895755 RCV005895756

NM_000466.3(PEX1):c.891A>G (p.Ile297Met)

SNV
Germline

Chr7:92517624

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341525

rs_143206380

4 SubmittersRCV000370995 RCV001277060

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

9 SubmittersRCV000298949 RCV000345924 RCV000766589 RCV001277301 RCV003977800

NM_000466.3(PEX1):c.293C>T (p.Ser98Phe)

SNV
Germline

Chr7:92519059

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4341643

rs_369100815

3 SubmittersRCV000325375 RCV001458350 RCV002518035

NM_000466.3(PEX1):c.1360-4G>T

SNV
Germline

Chr7:92511707

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341413

rs_199716270

7 SubmittersRCV000271696 RCV000351986 RCV001450061 RCV002521991 RCV003957498 RCV005355607

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

SNV
Germline

Chr7:92496746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341025

rs_371327573

4 SubmittersRCV000301612 RCV000764729 RCV001855212

NM_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 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Inborn genetic diseases
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA4340908

rs_185181696

8 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
Peroxisome biogenesis disorder 5A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4788653

rs_764785488

3 SubmittersRCV000405154 RCV001078844 RCV001275869

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

SNV
Germline

Chr7:92517576

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341515

rs_199647157

5 SubmittersRCV000296594 RCV001085224 RCV001507170 RCV005407028

NM_000466.3(PEX1):c.2926+8T>C

SNV
Germline

Chr7:92494479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340977

rs_369877998

6 SubmittersRCV000333673 RCV001086316 RCV001450071 RCV001700030 RCV003930197

NM_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 6B
Peroxisome biogenesis disorder 6A (Zellweger)
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)
Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340893

rs_776231556

3 SubmittersRCV000396766 RCV000729990 RCV001861309

NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)

SNV
Germline

Chr7:92491337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340845

rs_142994610

9 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
Uveal melanoma

Criteria Provided
Conflicting Classifications

CA4340962

rs_375062546

3 SubmittersRCV000396793 RCV002058679 RCV005899271

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3810866

rs_145243129

4 SubmittersRCV000279268 RCV000966458 RCV001276729 RCV006443150

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

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

Criteria Provided
Conflicting Classifications

CA4341409

rs_565049190

5 SubmittersRCV000728937 RCV000405009 RCV001277057 RCV003970059

NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr1:2408700

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16040725

rs_369965266

4 SubmittersRCV000410037 RCV000411504 RCV001290646 RCV002523888 RCV006640602

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

6 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041148

rs_1057517481

5 SubmittersRCV000410455 RCV000411996 RCV001201668 RCV001004319 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)
Zellweger spectrum disorders
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA16041152

rs_1057517485

6 SubmittersRCV000409416 RCV000411881 RCV001213658 RCV001004320 RCV003475984 RCV005033923

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

4 SubmittersRCV000410160 RCV000412134 RCV002523885 RCV003475978

NM_000466.3(PEX1):c.1670+1G>T

SNV
Germline

Chr7:92509328

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041162

rs_1057517490

5 SubmittersRCV000410364 RCV000411848 RCV002523887 RCV003475985 RCV005632389

NM_000466.3(PEX1):c.1670+1G>A

SNV
Germline

Chr7:92509328

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041163

rs_1057517490

4 SubmittersRCV000409269 RCV000411209 RCV002523889

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

SNV
Germline

Chr7:92510943

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041164

rs_1057517469

3 SubmittersRCV000409309 RCV000411742 RCV001212702 RCV003475979

NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)

SNV
Germline

Chr7:92511003

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341376

rs_754983126

3 SubmittersRCV000410009 RCV000412445 RCV002523884 RCV003475975

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

SNV
Germline

Chr7:92517968

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341576

rs_149806989

7 SubmittersRCV000409397 RCV000411910 RCV000780585 RCV001376604 RCV002488843 RCV003475991 RCV005425947

NM_000466.3(PEX1):c.358-1G>T

SNV
Germline

Chr7:92518256

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 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.348G>A (p.Trp116Ter)

SNV
Germline

Chr7:92519004

Likely pathogenic

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

Criteria Provided
Single Submitter

CA16041175

rs_1057517487

2 SubmittersRCV000409324 RCV000411341 RCV006644555

NM_000466.3(PEX1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr7:92528434

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041177

rs_766020928

3 SubmittersRCV000410653 RCV000411721 RCV002230732 RCV005044618

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

SNV
Germline

Chr7:92528434

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341711

rs_766020928

7 SubmittersRCV000410262 RCV000412294 RCV001250203 RCV001174676 RCV001232745 RCV005033925

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

SNV
Germline

Chr7:92528435

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041178

rs_1057517501

4 SubmittersRCV000409502 RCV000411873 RCV000598681 RCV001384497 RCV005033924

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

SNV
Germline

Chr7:92510939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341370

rs_199526105

6 SubmittersRCV000730939 RCV001162173 RCV001277308

NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)

SNV
Germline

Chr6:42965262

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138222058

rs_61753230

6 SubmittersRCV000802431 RCV004696954 RCV006640764 RCV002248804

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

16 SubmittersRCV000584993 RCV000591691 RCV000660395 RCV001083497 RCV001391319 RCV001578749 RCV003925755

NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr6:42969675

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA364155563

rs_1554127491

3 SubmittersRCV000589755 RCV006640769

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

SNV
Germline

Chr6:42969884

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3811407

rs_763459576

5 SubmittersRCV000588951 RCV001834834 RCV003471937 RCV005034154

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

SNV
Germline

Chr7:92494331

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4340941

rs_61750428

7 SubmittersRCV000590014 RCV000818703 RCV000984291 RCV000984292 RCV001783092 RCV002232225 RCV005392144

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

6 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.2060G>A (p.Arg687Gln)

SNV
Germline

Chr7:92504743

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA4341225

rs_201443294

3 SubmittersRCV000598166 RCV002531017 RCV004752960

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_000287.4(PEX6):c.273G>A (p.Trp91Ter)

SNV
Germline

Chr6:42978878

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138238569

rs_1010184002

6 SubmittersRCV000597333 RCV000735223 RCV001384063 RCV003471954 RCV006640785

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_000287.4(PEX6):c.1884+3G>A

SNV
Germline

Chr6:42967365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811199

rs_377041406

5 SubmittersRCV000596762 RCV001351936 RCV001835870 RCV004553324

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
Peroxisome biogenesis disorder
Heimler syndrome 2
Zellweger spectrum disorders
Inborn genetic diseases
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA3811225

rs_146416679

8 SubmittersRCV000597689 RCV001049098 RCV001333352 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3811137

rs_748535121

5 SubmittersRCV000596492 RCV001051856 RCV001834900 RCV006362498

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

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

Criteria Provided
Conflicting Classifications

CA3811650

rs_183449855

4 SubmittersRCV000593272 RCV001086149 RCV001158852 RCV001276742

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

5 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

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

Criteria Provided
Conflicting Classifications

CA3811267

rs_138621982

7 SubmittersRCV000592165 RCV001068866 RCV001163662 RCV001829689 RCV004553344 RCV005384783

NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu)

SNV
Germline

Chr7:92489350

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
not specified

Criteria Provided
Conflicting Classifications

CA368159552

rs_1473858573

2 SubmittersRCV000633315 RCV006459705

NM_000287.4(PEX6):c.659G>T (p.Gly220Val)

SNV
Germline

Chr6:42978492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138237883

rs_267608203

6 SubmittersRCV000656322 RCV000672728 RCV002534243 RCV003472050 RCV003488777 RCV006640815

NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)

SNV
Germline

Chr7:92489304

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
not specified

Criteria Provided
Conflicting Classifications

CA4340751

rs_553001596

3 SubmittersRCV000660614 RCV001451234 RCV005407851

NM_002617.4(PEX10):c.868C>G (p.His290Asp)

SNV
Germline

Chr1:2406528

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16942840

rs_61752094

4 SubmittersRCV000668280 RCV001221744 RCV003472095 RCV006642363

NM_002617.4(PEX10):c.912+1G>C

SNV
Germline

Chr1:2406483

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337983985

rs_1553231739

6 SubmittersRCV000669958 RCV001784260 RCV003472121 RCV003653256 RCV006642397

NM_002617.4(PEX10):c.776+2T>C

SNV
Germline

Chr1:2406718

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 6A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA337984924

rs_1335685844

3 SubmittersRCV000670741 RCV003472130 RCV006642416

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

Criteria Provided
Conflicting Classifications

CA3810958

rs_267608246

10 SubmittersRCV000666171 RCV001198918 RCV001242506 RCV001835075 RCV002477483 RCV003472077 RCV004547836

NM_000287.4(PEX6):c.2362G>A (p.Val788Met)

SNV
Germline

Chr6:42966044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138222768

rs_267608240

8 SubmittersRCV000672227 RCV000780591 RCV001311716 RCV003472146 RCV004788099 RCV006642447

NM_000287.4(PEX6):c.1130+2T>C

SNV
Germline

Chr6:42974001

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364157934

rs_1416001981

3 SubmittersRCV000666516 RCV002532053 RCV006642341

NM_000287.4(PEX6):c.1962-1G>A

SNV
Germline

Chr6:42966658

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138223536

rs_267608229

7 SubmittersRCV000665084 RCV001280661 RCV002224971 RCV003472068 RCV005034234 RCV006640823

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

Criteria Provided
Conflicting Classifications

CA3811614

rs_778791031

7 SubmittersRCV000664899 RCV000731346 RCV001247917 RCV001835068 RCV002530640 RCV002485520

NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)

SNV
Germline

Chr6:42979116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138238795

rs_61752139

4 SubmittersRCV000673775 RCV002531343 RCV003472161 RCV006642478

NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)

SNV
Germline

Chr6:42965717

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
Heimler syndrome 2
Heimler syndrome 2
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA3811017

rs_61753229

7 SubmittersRCV000670936 RCV000857244 RCV001379858 RCV003472131 RCV005034259 RCV006642421

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364151791

rs_1443107232

5 SubmittersRCV000666129 RCV001043607 RCV001276614 RCV003472076 RCV005046856

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

CA368204649

rs_1554376597

5 SubmittersRCV000674474 RCV001377626 RCV002499189 RCV003472170

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

SNV
Germline

Chr7:92528431

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341710

rs_762679408

5 SubmittersRCV000674254 RCV001201378 RCV003472166 RCV005034275

NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)

SNV
Germline

Chr7:92493083

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161954483

rs_954814470

7 SubmittersRCV000669293 RCV000729582 RCV001332474 RCV002531221 RCV003472113 RCV006452821

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

SNV
Germline

Chr7:92493122

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368167099

rs_1484321655

4 SubmittersRCV000666769 RCV001004316 RCV001377622 RCV003472081

NM_000466.3(PEX1):c.2719-2A>G

SNV
Germline

Chr7:92496779

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368171328

rs_1554369234

3 SubmittersRCV000668286 RCV002530739 RCV003472097

NM_000466.3(PEX1):c.2071+2T>C

SNV
Germline

Chr7:92504730

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368182701

rs_1478905473

2 SubmittersRCV000668401 RCV003594017

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

SNV
Germline

Chr7:92506251

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341272

rs_61750409

5 SubmittersRCV000665705 RCV001193608 RCV001868206 RCV003420172 RCV003472072

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

SNV
Germline

Chr7:92528435

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368207556

rs_1057517501

3 SubmittersRCV000667385 RCV001091386 RCV003767954

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

SNV
Germline

Chr7:92494567

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4340993

rs_61750425

6 SubmittersRCV000672142 RCV001242973 RCV001662740 RCV003472144

NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)

SNV
Germline

Chr7:92507020

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161966090

rs_61750407

5 SubmittersRCV000664531 RCV003594015 RCV003472062 RCV006268929

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

SNV
Germline

Chr7:92517946

Pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368201163

rs_1554375599

3 SubmittersRCV000665963 RCV001229220

NM_000466.3(PEX1):c.473-1G>A

SNV
Germline

Chr7:92518043

Pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368201892

rs_1554375661

2 SubmittersRCV000673458 RCV006644621

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

SNV
Germline

Chr7:92518257

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368202694

rs_1057517500

5 SubmittersRCV000670124 RCV001855537 RCV002477500 RCV004568536

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

SNV
Germline

Chr8:76983806

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4788719

rs_61752124

11 SubmittersRCV000664468 RCV000780588 RCV001053880 RCV001275871 RCV002281578 RCV003231574

NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)

SNV
Germline

Chr8:76983875

Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA371557640

rs_200065382

2 SubmittersRCV000669502 RCV006642386

NM_000318.3(PEX2):c.782A>G (p.His261Arg)

SNV
Germline

Chr8:76983397

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 5A (Zellweger)
See cases
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4788654

rs_749956542

6 SubmittersRCV000674153 RCV001855605 RCV003156108 RCV005431869 RCV006642484

NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)

SNV
Germline

Chr7:92492955

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368165801

rs_1562846113

2 SubmittersRCV000680063 RCV001384961 RCV003472182

NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)

SNV
Germline

Chr6:42966802

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3811176

rs_781475201

5 SubmittersRCV000698404 RCV003472225 RCV005034311 RCV006642527 RCV006554577

NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)

SNV
Germline

Chr7:92494568

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161955790

rs_866184460

5 SubmittersRCV000704649 RCV001580539 RCV003472246 RCV004796289

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

CA138227640

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

CA4788710

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

CA4341497

rs_138905930

4 SubmittersRCV000728121 RCV001363390 RCV004958062

NM_000287.4(PEX6):c.1231A>G (p.Met411Val)

SNV
Germline

Chr6:42969887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811409

rs_752177240

5 SubmittersRCV000728855 RCV001786416 RCV003330924 RCV004547922 RCV006642547

NM_000466.3(PEX1):c.1283C>T (p.Ala428Val)

SNV
Germline

Chr7:92513924

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341445

rs_376883207

2 SubmittersRCV000729209 RCV001868939

NM_000466.3(PEX1):c.23C>A (p.Ala8Glu)

SNV
Germline

Chr7:92528413

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341705

rs_537242377

2 SubmittersRCV000729269 RCV002535112

NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)

SNV
Germline

Chr7:92491494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340868

rs_140963147

9 SubmittersRCV000730111 RCV001082990 RCV001275213 RCV001816798 RCV003953310

NM_000466.3(PEX1):c.2084T>C (p.Met695Thr)

SNV
Germline

Chr7:92503183

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341209

rs_112747515

2 SubmittersRCV000730317 RCV001855635

NM_000466.3(PEX1):c.3031-9T>C

SNV
Germline

Chr7:92493138

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA161954534

rs_113162185

3 SubmittersRCV000730318 RCV002536443

NM_000466.3(PEX1):c.2268A>G (p.Lys756=)

SNV
Germline

Chr7:92502038

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA456482968

rs_1434174453

3 SubmittersRCV000730319 RCV001448407 RCV003983187

NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)

SNV
Germline

Chr8:76983481

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4788666

rs_200868032

7 SubmittersRCV000731121 RCV001061646 RCV001825465 RCV002535189 RCV004748937

NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)

SNV
Germline

Chr7:92517473

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341502

rs_371309198

3 SubmittersRCV000731755 RCV001164201 RCV001454268

NM_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

CA450366242

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

CA4340987

rs_200663477

5 SubmittersRCV000732143 RCV001193611 RCV001504524 RCV003965534

NM_000466.3(PEX1):c.1434T>G (p.Leu478=)

SNV
Germline

Chr7:92511629

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341402

rs_757668497

3 SubmittersRCV000732191 RCV001087466

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

SNV
Germline

Chr6:42967478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811222

rs_375288192

5 SubmittersRCV000732195 RCV001830618 RCV001245942 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

CA538178

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

CA138237512

rs_757897959

4 SubmittersRCV000732962 RCV001474745 RCV001731914 RCV001835944

NM_000466.3(PEX1):c.889A>G (p.Ile297Val)

SNV
Germline

Chr7:92517626

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341527

rs_181796768

3 SubmittersRCV000733464 RCV001277313

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

SNV
Germline

Chr7:92499776

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
not specified

Criteria Provided
Conflicting Classifications

CA4341062

rs_775421085

3 SubmittersRCV000734198 RCV001478727 RCV005436041

NM_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
Peroxisome biogenesis disorder
Heimler syndrome 2
PEX6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA138224585

rs_61753225

8 SubmittersRCV000779505 RCV001576829 RCV001825519 RCV002535657 RCV003472310 RCV004549856

NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)

SNV
Germline

Chr6:42978981

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138238675

rs_61752140

5 SubmittersRCV000778791 RCV003472309 RCV004549851 RCV005036108 RCV006642592

NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)

SNV
Germline

Chr7:92501938

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341148

rs_61750417

5 SubmittersRCV000780584 RCV000798670 RCV003472313 RCV005633680

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

SNV
Germline

Chr7:92506246

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368184509

rs_1562857198

4 SubmittersRCV000780587 RCV001377624 RCV001570534

NM_000466.3(PEX1):c.130-2A>G

SNV
Germline

Chr7:92522247

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368205303

rs_1585260993

3 SubmittersRCV001091385 RCV001796215 RCV005614447

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

SNV
Germline

Chr7:92517352

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368197640

rs_1585254187

1 SubmittersRCV002234193

NM_000466.3(PEX1):c.2783+2T>C

SNV
Germline

Chr7:92496711

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368170746

rs_1585224312

2 SubmittersRCV001830708

NM_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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4788637

rs_544763390

5 SubmittersRCV000970645 RCV001276113 RCV001578803 RCV003905995 RCV005633783

NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)

SNV
Germline

Chr7:92501532

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4341104

rs_143283146

3 SubmittersRCV001277305 RCV002540751

NM_000466.3(PEX1):c.147G>A (p.Val49=)

SNV
Germline

Chr7:92522228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341673

rs_202230667

7 SubmittersRCV000904646 RCV001277316 RCV001578708 RCV001578707 RCV001729741 RCV003958200

NM_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

CA3811357

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

CA456484175

rs_1445565547

2 SubmittersRCV001162273 RCV001500195

NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)

SNV
Germline

Chr7:92518210

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161974140

rs_201415996

6 SubmittersRCV001004522 RCV001030786 RCV001784534 RCV001869414

NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter)

SNV
Germline

Chr7:92513867

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368192451

rs_1585248089

2 SubmittersRCV001004517 RCV006642726

NM_000466.3(PEX1):c.130-1G>T

SNV
Germline

Chr7:92522246

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161978977

rs_1028247729

3 SubmittersRCV001004525 RCV001378209 RCV002290989 RCV004569849

NM_000466.3(PEX1):c.1483+1G>A

SNV
Germline

Chr7:92511579

Pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368190525

rs_1585244586

3 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

CA538168

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3810920

rs_62641232

7 SubmittersRCV001049060 RCV001274622 RCV001823180 RCV002479299 RCV003156137 RCV003473637 RCV005241422

NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)

SNV
Germline

Chr7:92501625

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA161960026

rs_545731416

3 SubmittersRCV001827334 RCV005702397

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

SNV
Germline

Chr7:92502010

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Condition: not provided
PEX1-related disorder

Criteria Provided
Conflicting Classifications

CA161960410

rs_374010060

4 SubmittersRCV001832483 RCV003480928 RCV004753183

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

SNV
Germline

Chr7:92506331

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368185381

rs_1792186595

1 SubmittersRCV001047697

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

SNV
Germline

Chr7:92507097

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4341318

rs_199989676

3 SubmittersRCV001833649 RCV004960426

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

SNV
Germline

Chr7:92506247

Pathogenic/Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4341271

rs_770447891

2 SubmittersRCV001036555

NM_000466.3(PEX1):c.2226+2T>C

SNV
Germline

Chr7:92503039

Pathogenic

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368180920

rs_1792005848

2 SubmittersRCV001090901 RCV006636620

NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)

SNV
Germline

Chr7:92489418

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340763

rs_777384403

3 SubmittersRCV001159089 RCV001476481 RCV003908411

NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)

SNV
Germline

Chr7:92489807

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340800

rs_374673391

2 SubmittersRCV001160447 RCV001419799

NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)

SNV
Germline

Chr7:92492965

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340892

rs_768417678

3 SubmittersRCV001162081 RCV001423195

NM_000466.3(PEX1):c.3637-14T>C

SNV
Germline

Chr7:92489437

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340768

rs_745612436

2 SubmittersRCV001160446 RCV002070981

NM_000466.3(PEX1):c.2927-8T>C

SNV
Germline

Chr7:92494404

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340960

rs_778618662

2 SubmittersRCV001164104 RCV001394600

NM_000466.3(PEX1):c.1901-14T>C

SNV
Germline

Chr7:92504916

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1139660136

rs_1792111444

3 SubmittersRCV001160558 RCV002483910 RCV003759000

NM_000466.3(PEX1):c.1804-12A>G

SNV
Germline

Chr7:92506356

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA161965655

rs_143041528

2 SubmittersRCV001160559 RCV002070986

NM_000466.3(PEX1):c.1671-13A>G

SNV
Germline

Chr7:92507139

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341327

rs_757960956

2 SubmittersRCV001162172 RCV002071012

NM_000466.3(PEX1):c.2071+1G>T

SNV
Germline

Chr7:92504731

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161964536

rs_267608177

4 SubmittersRCV001193609 RCV001377623 RCV003313184 RCV003473732

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

SNV
Germline

Chr6:42978608

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811606

rs_368560418

4 SubmittersRCV001223288 RCV001833933 RCV003132291 RCV004738198

NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)

SNV
Germline

Chr7:92501611

Pathogenic

Zellweger spectrum disorders
PEX1-related disorder
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368175932

rs_1232449804

4 SubmittersRCV001206563 RCV003983849 RCV004570441

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
Heimler syndrome 2
Heimler syndrome 2
Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Conflicting Classifications

CA3811146

rs_267608230

5 SubmittersRCV001248070 RCV001836248 RCV002480855 RCV003473835 RCV004697090

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

CA3811291

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
not specified

Criteria Provided
Conflicting Classifications

CA4341198

rs_141510219

9 SubmittersRCV001247525 RCV001250066 RCV003393917 RCV003481031 RCV004034895 RCV006266663

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

SNV
Germline

Chr7:92491505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340872

rs_763767937

3 SubmittersRCV001237503 RCV004727025

NM_000287.4(PEX6):c.882+1G>A

SNV
Germline

Chr6:42978268

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138237421

rs_267608207

5 SubmittersRCV001250531 RCV002570424 RCV004570641 RCV005040100 RCV006636749

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3810989

rs_61753231

6 SubmittersRCV001265583 RCV001309121 RCV001830065 RCV003473843 RCV005038022 RCV004699248

NM_000287.4(PEX6):c.1236G>A (p.Val412=)

SNV
Germline

Chr6:42969799

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA450366124

rs_1196012985

3 SubmittersRCV001280381 RCV001871606 RCV002486073

NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)

SNV
Germline

Chr7:92517617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341522

rs_751506204

5 SubmittersRCV001296754 RCV003898288 RCV005394910 RCV006279545

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

SNV
Germline

Chr6:42965255

Pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA3810987

rs_764227040

2 SubmittersRCV001318814 RCV001830322

NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg)

SNV
Germline

Chr7:92506338

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
not specified

Criteria Provided
Conflicting Classifications

CA4341283

rs_148427398

3 SubmittersRCV001327743 RCV004699309

NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln)

SNV
Germline

Chr7:92507055

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4341312

rs_370483961

3 SubmittersRCV001324387 RCV001760414

NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)

SNV
Germline

Chr7:92517712

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341536

rs_780119112

5 SubmittersRCV001316857 RCV003898302 RCV005394937 RCV006279576

NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)

SNV
Germline

Chr1:2408833

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337989072

rs_531987102

3 SubmittersRCV001904736 RCV003475123 RCV006639008

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 1B
Peroxisome biogenesis disorder 1A (Zellweger)

Criteria Provided
Conflicting Classifications

CA4341552

rs_753823218

3 SubmittersRCV001339992 RCV002476567

NM_000466.3(PEX1):c.3207+1G>C

SNV
Germline

Chr7:92492952

Pathogenic/Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA161954270

rs_267608181

2 SubmittersRCV001377621 RCV003473904

NM_000466.3(PEX1):c.2583+1G>T

SNV
Germline

Chr7:92501506

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA4341103

rs_771586413

1 SubmittersRCV001379083

NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr1:2406793

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337985354

rs_1295555837

3 SubmittersRCV001382957 RCV003473942 RCV006636913

NM_000287.4(PEX6):c.747G>A (p.Trp249Ter)

SNV
Germline

Chr6:42978404

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA364162342

rs_1770400284

3 SubmittersRCV001387078 RCV003473976 RCV006636980

NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)

SNV
Germline

Chr7:92489900

Pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368162260

rs_1459743428

2 SubmittersRCV001382765 RCV003473940

NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter)

SNV
Germline

Chr7:92491409

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368164174

rs_2116059303

1 SubmittersRCV001390901

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

SNV
Germline

Chr7:92493123

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368167101

rs_1791439311

4 SubmittersRCV001380782 RCV003473928 RCV003984857

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

SNV
Germline

Chr7:92511607

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368190734

rs_2116209376

1 SubmittersRCV001380151

NM_000466.3(PEX1):c.130-2A>T

SNV
Germline

Chr7:92522247

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368205304

rs_1585260993

3 SubmittersRCV001420907 RCV001859336 RCV006635973

NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)

SNV
Germline

Chr7:92492994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161954341

rs_1009877821

3 SubmittersRCV001496742 RCV001578741 RCV001578742 RCV001578740

NM_000466.3(PEX1):c.223G>A (p.Glu75Lys)

SNV
Germline

Chr7:92522152

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4341667

rs_759993457

2 SubmittersRCV001478690 RCV005702578

NM_000466.3(PEX1):c.2227-11T>A

SNV
Germline

Chr7:92502090

Conflicting classifications of pathogenicity

Condition: not provided
Zellweger spectrum disorders
PEX1-related Peroxisomal Biogenesis Disorder

Criteria Provided
Conflicting Classifications

CA4341176

rs_760316851

3 SubmittersRCV001752339 RCV005095010 RCV005645295

NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter)

SNV
Germline

Chr7:92511652

Pathogenic/Likely pathogenic

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA161968969

rs_758402265

2 SubmittersRCV001782596 RCV001885188

NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter)

SNV
Germline

Chr7:92507002

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368187163

rs_1792222710

1 SubmittersRCV001919330

NM_000466.3(PEX1):c.3483G>C (p.Leu1161Phe)

SNV
Germline

Chr7:92489867

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
PEX1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4340810

rs_375607384

3 SubmittersRCV001979003 RCV004753446 RCV005382296

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

SNV
Germline

Chr7:92491271

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368163237

rs_1554367284

1 SubmittersRCV002017918

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

SNV
Germline

Chr7:92518994

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368202817

rs_866144313

1 SubmittersRCV002017935

NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter)

SNV
Germline

Chr7:92507125

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368188022

rs_2116181877

1 SubmittersRCV001941647

NM_000318.3(PEX2):c.91C>T (p.Gln31Ter)

SNV
Germline

Chr8:76984088

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA179988285

rs_149287302

2 SubmittersRCV001960587 RCV006644774

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

SNV
Germline

Chr7:92518994

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161974656

rs_866144313

5 SubmittersRCV001999185 RCV002486589 RCV003475275 RCV006635982

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

SNV
Germline

Chr7:92503105

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368181595

rs_1792013985

1 SubmittersRCV001901725

NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter)

SNV
Germline

Chr7:92501574

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368175468

rs_2116145324

1 SubmittersRCV001892269

NM_000466.3(PEX1):c.2719-1G>A

SNV
Germline

Chr7:92496778

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368171311

rs_1791673946

2 SubmittersRCV002030082

NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter)

SNV
Germline

Chr7:92513865

Pathogenic/Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368192431

rs_1467651370

2 SubmittersRCV001946843 RCV003475231

NM_000466.3(PEX1):c.955C>T (p.Gln319Ter)

SNV
Germline

Chr7:92517560

Pathogenic/Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368198797

rs_2116244185

2 SubmittersRCV001909016 RCV003475157

NM_000466.3(PEX1):c.607G>T (p.Gly203Ter)

SNV
Germline

Chr7:92517908

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368200943

rs_1472300213

1 SubmittersRCV001949325

NM_000466.3(PEX1):c.34G>T (p.Gly12Ter)

SNV
Germline

Chr7:92528402

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368207489

rs_1793402720

1 SubmittersRCV001949339

NM_000466.3(PEX1):c.3678A>T (p.Arg1226Ser)

SNV
Germline

Chr7:92489382

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA368159974

rs_1173172739

2 SubmittersRCV001872347 RCV006362660

NM_000287.4(PEX6):c.2589-1G>T

SNV
Germline

Chr6:42965153

Likely pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA364150806

rs_2114237186

2 SubmittersRCV002029320 RCV006640859

NM_000466.3(PEX1):c.88C>T (p.His30Tyr)

SNV
Germline

Chr7:92528348

Conflicting classifications of pathogenicity

Zellweger spectrum disorders
PEX1-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4341697

rs_375045292

4 SubmittersRCV001984463 RCV003407977 RCV004770292 RCV005382291

NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)

SNV
Germline

Chr6:42964862

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3810921

rs_374549180

4 SubmittersRCV002021081 RCV005042690 RCV006640860

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

SNV
Germline

Chr7:92504840

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368183711

rs_2116165809

1 SubmittersRCV001948822

NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro)

SNV
Germline

Chr7:92493122

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368167097

rs_1484321655

1 SubmittersRCV001998051

NM_000287.4(PEX6):c.2663G>A (p.Arg888His)

SNV
Germline

Chr6:42965078

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364150543

rs_267608247

6 SubmittersRCV002244512 RCV003093952 RCV003223433 RCV003324006 RCV006640901

NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)

SNV
Germline

Chr7:92517416

Likely pathogenic

Zellweger spectrum disorders
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368198079

rs_140990231

2 SubmittersRCV006640941 RCV006695112

NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)

SNV
Germline

Chr7:92522170

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368204940

rs_1469341456

4 SubmittersRCV003475336 RCV003594184 RCV005042801 RCV006695466

NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)

SNV
Germline

Chr7:92491399

Likely pathogenic

Zellweger spectrum disorders
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368164077

rs_2484621318

2 SubmittersRCV006644814 RCV006695476

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

CA6426284

rs_267608194

2 SubmittersRCV003037442 RCV004017960

NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)

SNV
Germline

Chr8:76983865

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA179988274

rs_1011185031

4 SubmittersRCV003087553 RCV005045264 RCV006644858

NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)

SNV
Germline

Chr7:92517967

Conflicting classifications of pathogenicity

Inborn genetic diseases
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA161973896

rs_371413721

2 SubmittersRCV003072731 RCV003085908

NM_000466.3(PEX1):c.3637-1G>A

SNV
Germline

Chr7:92489424

Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368160510

rs_2484610293

3 SubmittersRCV002586445 RCV003475396

NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)

SNV
Germline

Chr7:92517638

Pathogenic/Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368199261

rs_1792857897

2 SubmittersRCV002583240 RCV003475395

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

SNV
Germline

Chr7:92511688

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368191489

rs_2484687761

3 SubmittersRCV004571247 RCV002794871 RCV005034411

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

SNV
Germline

Chr7:92513847

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368192270

rs_2484692157

1 SubmittersRCV002838808

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

SNV
Germline

Chr7:92489291

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368158994

rs_745692619

1 SubmittersRCV002838198

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

SNV
Germline

Chr7:92503196

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368182361

rs_776263154

1 SubmittersRCV002857840

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

SNV
Germline

Chr7:92517682

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368199544

rs_2484703148

1 SubmittersRCV002912654

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

SNV
Germline

Chr7:92517467

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368198403

rs_1792847005

1 SubmittersRCV002899352

NM_000466.3(PEX1):c.2784-1G>C

SNV
Germline

Chr7:92494630

Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368170284

rs_2484638988

2 SubmittersRCV002996430 RCV003475459

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

SNV
Germline

Chr7:92504753

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368182924

rs_2484668233

3 SubmittersRCV003010320 RCV005034580

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

SNV
Germline

Chr7:92491301

Pathogenic/Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368163370

rs_2484620768

2 SubmittersRCV003029094

NM_000466.3(PEX1):c.273+2T>G

SNV
Germline

Chr7:92522100

Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368204640

rs_1793074319

2 SubmittersRCV003030631 RCV003475474

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

SNV
Germline

Chr7:92501670

Pathogenic/Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368176603

rs_2484660560

2 SubmittersRCV003047646

NM_000466.3(PEX1):c.3031-1G>A

SNV
Germline

Chr7:92493130

Likely pathogenic

Zellweger spectrum disorders
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368167139

rs_2484629571

2 SubmittersRCV003044847 RCV003475482

NM_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

CA343263096

rs_2525316064

2 SubmittersRCV003131168 RCV004017971

NM_000287.4(PEX6):c.2314G>T (p.Glu772Ter)

SNV
Germline

Chr6:42966092

Likely pathogenic

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA364151973

rs_2481205835

2 SubmittersRCV003328778 RCV006641348

NM_002617.4(PEX10):c.777-1G>A

SNV
Germline

Chr1:2406620

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA337984860

rs_2522257720

2 SubmittersRCV003476790 RCV006642916

NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)

SNV
Germline

Chr1:2406750

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA538051

rs_571178917

3 SubmittersRCV003476794 RCV003779067 RCV006642917

NM_000287.4(PEX6):c.2807-2A>G

SNV
Germline

Chr6:42964473

Pathogenic/Likely pathogenic

Heimler syndrome 2
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA138220926

rs_267608251

2 SubmittersRCV003476826 RCV006642918

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

SNV
Germline

Chr7:92489369

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368159802

rs_1393663701

3 SubmittersRCV003476744 RCV003759875 RCV005047599

NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)

SNV
Germline

Chr7:92489845

Pathogenic/Likely pathogenic

Heimler syndrome 1
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368161789

rs_2484613318

2 SubmittersRCV003476751 RCV003759876

NM_000466.3(PEX1):c.1652T>A (p.Leu551Ter)

SNV
Germline

Chr7:92509347

Likely pathogenic

Heimler syndrome 1
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368188260

rs_2484681972

2 SubmittersRCV003476769 RCV006642914

NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)

SNV
Germline

Chr7:92501998

Pathogenic/Likely pathogenic

Heimler syndrome 1
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368177961

rs_751076530

2 SubmittersRCV003476779 RCV003594694

NM_000466.3(PEX1):c.829C>T (p.Gln277Ter)

SNV
Germline

Chr7:92517686

Pathogenic/Likely pathogenic

Condition: not provided
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368199569

rs_1792861698

2 SubmittersRCV003480437 RCV005100305

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

SNV
Germline

Chr7:92489913

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368162390

rs_2484613798

1 SubmittersRCV003594789

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

SNV
Germline

Chr7:92502080

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368178885

rs_2484662083

1 SubmittersRCV003594957

NM_002617.4(PEX10):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:2412500

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder, complementation group 7
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA337990813

rs_1393899190

2 SubmittersRCV003535141 RCV006643056

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

SNV
Germline

Chr7:92517351

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA161973254

rs_910803999

1 SubmittersRCV003593732

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

SNV
Germline

Chr7:92494625

Pathogenic/Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368170245

rs_1791556897

2 SubmittersRCV003594538

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

SNV
Germline

Chr7:92499703

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368173067

rs_2484655081

1 SubmittersRCV003760858

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

SNV
Germline

Chr7:92517564

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368198818

rs_2484702728

3 SubmittersRCV003760871 RCV005047742

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

SNV
Germline

Chr7:92517721

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368199804

rs_2484703325

3 SubmittersRCV003758351 RCV006686062

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

SNV
Germline

Chr7:92504904

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368184294

rs_2484669193

2 SubmittersRCV003758368

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

SNV
Germline

Chr7:92517488

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368198495

rs_2484702514

1 SubmittersRCV003758359

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

SNV
Germline

Chr7:92501889

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368176775

rs_2484661382

1 SubmittersRCV003758640

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

SNV
Germline

Chr7:92506293

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368184912

rs_2484673537

1 SubmittersRCV003758675

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

SNV
Germline

Chr7:92504903

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368184286

rs_1792111046

1 SubmittersRCV003759252

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

SNV
Germline

Chr7:92517276

Pathogenic/Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA161973191

rs_267608175

2 SubmittersRCV003759626

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

SNV
Germline

Chr7:92517959

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368201253

rs_1294268789

1 SubmittersRCV003760242

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

SNV
Germline

Chr7:92510943

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368188668

rs_1057517469

1 SubmittersRCV003825119

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

SNV
Germline

Chr7:92501674

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368176649

rs_1365047750

1 SubmittersRCV003824134

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

SNV
Germline

Chr7:92503121

Pathogenic/Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368181691

rs_1792014859

2 SubmittersRCV003874237

NM_002617.4(PEX10):c.882G>A (p.Trp294Ter)

SNV
Germline

Chr1:2406514

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2522256455

3 SubmittersRCV004574499 RCV005100917 RCV006637076

NM_002617.4(PEX10):c.913-1G>A

SNV
Germline

Chr1:2405835

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_752506584

2 SubmittersRCV004574500 RCV006637077

NM_002617.4(PEX10):c.194-2A>G

SNV
Germline

Chr1:2408860

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Zellweger spectrum disorders

Criteria Provided
Single Submitter

2 SubmittersRCV004776489 RCV005610732

NM_000466.3(PEX1):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr7:92522131

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005118968

NM_000466.3(PEX1):c.2527G>A (p.Gly843Ser)

SNV
Germline

Chr7:92501563

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005200430

NM_000466.3(PEX1):c.231C>A (p.Asn77Lys)

SNV
Germline

Chr7:92522144

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005200434

NM_000466.3(PEX1):c.3316C>T (p.Gln1106Ter)

SNV
Germline

Chr7:92491394

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005611323

NM_000466.3(PEX1):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr7:92517875

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005611331

NM_000466.3(PEX1):c.2909G>C (p.Gly970Ala)

SNV
Germline

Chr7:92494504

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005611332

NM_000466.3(PEX1):c.1407G>A (p.Trp469Ter)

SNV
Germline

Chr7:92511656

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005611347

NM_000287.4(PEX6):c.2131C>T (p.Gln711Ter)

SNV
Germline

Chr6:42966411

Likely pathogenic

Zellweger spectrum disorders
Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006637374 RCV005938365

NM_000466.3(PEX1):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr7:92517485

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006518757

NM_002617.4(PEX10):c.567C>A (p.Tyr189Ter)

SNV
Germline

Chr1:2408485

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006641968

NM_002617.4(PEX10):c.60C>A (p.Tyr20Ter)

SNV
Germline

Chr1:2412443

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006641969

NM_002617.4(PEX10):c.601-5T>A

SNV
Germline

Chr1:2406900

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006641970

NM_002617.4(PEX10):c.776+1G>T

SNV
Germline

Chr1:2406719

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006641972

NM_000318.3(PEX2):c.392C>G (p.Ser131Ter)

SNV
Germline

Chr8:76983787

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638376

NM_000466.3(PEX1):c.1058T>A (p.Leu353Ter)

SNV
Germline

Chr7:92517457

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645108

NM_000466.3(PEX1):c.1239+1G>C

SNV
Germline

Chr7:92517275

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638479

NM_000466.3(PEX1):c.1803+2T>C

SNV
Germline

Chr7:92506992

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638484

NM_000466.3(PEX1):c.1958G>A (p.Trp653Ter)

SNV
Germline

Chr7:92504845

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638490

NM_000466.3(PEX1):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:92528435

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638491

NM_000466.3(PEX1):c.2226+1G>T

SNV
Germline

Chr7:92503040

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645110

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

SNV
Germline

Chr7:92501889

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645111

NM_000466.3(PEX1):c.2659A>T (p.Lys887Ter)

SNV
Germline

Chr7:92499763

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638492

NM_000466.3(PEX1):c.2716A>T (p.Lys906Ter)

SNV
Germline

Chr7:92499706

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645113

NM_000466.3(PEX1):c.3028C>T (p.Gln1010Ter)

SNV
Germline

Chr7:92494295

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645115

NM_000466.3(PEX1):c.3037C>G (p.Arg1013Gly)

SNV
Germline

Chr7:92493123

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645116

NM_000466.3(PEX1):c.3378C>G (p.Tyr1126Ter)

SNV
Germline

Chr7:92491332

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638495

NM_000466.3(PEX1):c.3628C>T (p.Gln1210Ter)

SNV
Germline

Chr7:92489722

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638496

NM_000466.3(PEX1):c.3701T>A (p.Leu1234Ter)

SNV
Germline

Chr7:92489359

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645122

NM_000466.3(PEX1):c.466C>T (p.Gln156Ter)

SNV
Germline

Chr7:92518147

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645125

NM_000466.3(PEX1):c.473-1G>T

SNV
Germline

Chr7:92518043

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645126

NM_000466.3(PEX1):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr7:92517983

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006645127

NM_000287.4(PEX6):c.1234-1G>A

SNV
Germline

Chr6:42969802

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638329

NM_000287.4(PEX6):c.2094+2T>C

SNV
Germline

Chr6:42966523

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638333

NM_000287.4(PEX6):c.2338C>T (p.Gln780Ter)

SNV
Germline

Chr6:42966068

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638335

NM_000287.4(PEX6):c.2588+1G>C

SNV
Germline

Chr6:42965251

Likely pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638337

NM_000287.4(PEX6):c.2666+2T>C

SNV
Germline

Chr6:42965073

Pathogenic

Zellweger spectrum disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006638339