Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)	SNV Germline	Chr22:18079935	Pathogenic	Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A (Zellweger) PEX26-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115367	rs_62641228	11 SubmittersRCV000002234 RCV000780589 RCV000402285 RCV000812717 RCV003472958 RCV003390634
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)	SNV Germline	Chr22:18079908	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Multiple Submitters No Conflicts	CA115369	rs_28940308	3 SubmittersRCV000002236 RCV005222658
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)	SNV Germline	Chr22:18078378	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA115372	rs_74315506	5 SubmittersRCV000002239 RCV000779366 RCV002269256 RCV005024990
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)	SNV Germline	Chr22:18078510	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA115374	rs_61752132	5 SubmittersRCV000002240 RCV000351940 RCV001298874 RCV004700179
NM_001127649.3(PEX26):c.230+1G>T	SNV Germline	Chr22:18078607	Pathogenic	Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA115377	rs_267608190	4 SubmittersRCV000002242 RCV001851574 RCV002509142
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)	SNV Germline	Chr11:45914619	Pathogenic	Peroxisome biogenesis disorder 8A (Zellweger) Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA118288	rs_61752117	3 SubmittersRCV000006837 RCV000431832 RCV001851705
NM_004813.4(PEX16):c.952+2T>C	SNV Germline	Chr11:45910896	Pathogenic	Peroxisome biogenesis disorder 8A (Zellweger)	No Assertion Criteria Provided	CA5959754	rs_267608185	1 SubmittersRCV000006839
NM_002617.4(PEX10):c.600+1G>A	SNV Germline	Chr1:2408451	Pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA118503	rs_267608183	8 SubmittersRCV000007172 RCV001273137 RCV002476939 RCV000519441 RCV000817369 RCV000983989 RCV001174563
NM_002617.4(PEX10):c.870C>G (p.His290Gln)	SNV Germline	Chr1:2406526	Pathogenic	Peroxisome biogenesis disorder 6B	No Assertion Criteria Provided	CA118504	rs_61752095	1 SubmittersRCV000007173
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)	Criteria Provided Multiple Submitters No Conflicts	CA118506	rs_61750434	5 SubmittersRCV000007174 RCV000670577 RCV001058978 RCV002222345 RCV003472994
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	SNV Germline	Chr7:92501562	Pathogenic	Peroxisome biogenesis disorder Leber congenital amaurosis Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisomal disorder Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Retinal dystrophy Inborn genetic diseases Zellweger spectrum disorders not specified PEX1-related disorder Peroxisome biogenesis disorder due to PEX1 defect	Criteria Provided Multiple Submitters No Conflicts	CA220977	rs_61750420	42 SubmittersRCV000007946 RCV000022416 RCV000032927 RCV000078922 RCV000345695 RCV000661947 RCV000763596 RCV000791271 RCV001004322 RCV001074120 RCV001266794 RCV001376560 RCV001731280 RCV003398462 RCV004786245
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	SNV Germline	Chr7:92504812	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA254194	rs_121434455	7 SubmittersRCV000007949 RCV001248383 RCV003473054 RCV003480024 RCV000763597
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter)	SNV Germline	Chr1:10624405	Pathogenic	Peroxisome biogenesis disorder 13A (Zellweger)	No Assertion Criteria Provided	CA119007	rs_61752116	1 SubmittersRCV000008140
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter)	SNV Germline	Chr2:61032028	Pathogenic	Peroxisome biogenesis disorder 11A (Zellweger)	No Assertion Criteria Provided	CA119009	rs_104893661	1 SubmittersRCV000008142
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)	SNV Germline	Chr2:61048535	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 11B Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA119011	rs_61752115	4 SubmittersRCV000008143 RCV002269257 RCV001851730 RCV004782013
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter)	SNV Germline	Chr17:35576171	Pathogenic	Peroxisome biogenesis disorder 3A (Zellweger)	No Assertion Criteria Provided	CA119063	rs_104894616	1 SubmittersRCV000008215
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)	SNV Germline	Chr17:35577180	Pathogenic	Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B Peroxisomal biogenesis disorder 3b Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA119065	rs_61752103	6 SubmittersRCV000008216 RCV000666018 RCV000032926 RCV001193474
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)	SNV Germline	Chr17:35575903	Pathogenic/Likely pathogenic	Peroxisomal biogenesis disorder 3b Condition: not provided Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA119067	rs_28936697	8 SubmittersRCV000008217 RCV000415755 RCV000625796 RCV002281700 RCV005394138
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)	SNV Germline	Chr17:35575913	Conflicting classifications of pathogenicity	Peroxisomal biogenesis disorder 3b Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B	No Assertion Criteria Provided	CA119070	rs_61752112	2 SubmittersRCV000008221 RCV000675048
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	SNV Germline	Chr6:136898213	Pathogenic	Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Condition: not provided PEX7-related disorder Peroxisome biogenesis disorder 9B Phytanic acid storage disease Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Multiple Submitters No Conflicts	CA340698	rs_1805137	29 SubmittersRCV000008222 RCV000477898 RCV000339271 RCV000352824 RCV000380952 RCV005394139
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	SNV Germline	Chr6:136869909	Pathogenic/Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Condition: not provided Rhizomelic chondrodysplasia punctata Peroxisome biogenesis disorder 9B Phytanic acid storage disease Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B PEX7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130482	rs_121909151	12 SubmittersRCV000008223 RCV000656252 RCV001831555 RCV000032925 RCV002504768 RCV004732537
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	SNV Germline	Chr6:136869905	Pathogenic/Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Condition: not provided Rhizomelic chondrodysplasia punctata Inborn genetic diseases Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Multiple Submitters No Conflicts	CA340700	rs_121909152	14 SubmittersRCV000008224 RCV000454287 RCV001509294 RCV001831556 RCV002512897 RCV005031421
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	SNV Germline	Chr6:136869950	Pathogenic	Rhizomelic chondrodysplasia punctata type 1 Condition: not provided Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata	Criteria Provided Multiple Submitters No Conflicts	CA254243	rs_121909153	9 SubmittersRCV000008225 RCV000255604 RCV001064035 RCV001826452
NM_000288.4(PEX7):c.903+1G>C	SNV Germline	Chr6:136898242	Pathogenic	Rhizomelic chondrodysplasia punctata type 1 PEX7-related disorder Condition: not provided Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata	Criteria Provided Multiple Submitters No Conflicts	CA340702	rs_148591292	17 SubmittersRCV000008227 RCV000388756 RCV000579182 RCV005003344 RCV000309699 RCV001027954
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)	SNV Germline	Chr6:136845620	Pathogenic	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 1	Criteria Provided Multiple Submitters No Conflicts	CA119072	rs_121909154	6 SubmittersRCV000008228 RCV001826453 RCV000411170
NM_000288.4(PEX7):c.340-10A>G	SNV Germline	Chr6:136845605	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 9B Phytanic acid storage disease Rhizomelic chondrodysplasia punctata type 1 Retinal dystrophy Inborn genetic diseases Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA119074	rs_267608255	13 SubmittersRCV000008229 RCV000032116 RCV000393497 RCV004814859 RCV005384640 RCV005042014 RCV000731239 RCV005357095
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	SNV Germline	Chr6:136822785	Pathogenic	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 Phytanic acid storage disease Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata Inborn genetic diseases Condition: not provided PEX7-related disorder Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Multiple Submitters No Conflicts	CA119075	rs_61753238	10 SubmittersRCV000008230 RCV000147254 RCV000763558 RCV001826454 RCV002512898 RCV003137500 RCV000324320 RCV005031422
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)	SNV Germline	Chr6:136822705	Pathogenic/Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Multiple Submitters No Conflicts	CA119078	rs_61753233	4 SubmittersRCV000032117 RCV000008233 RCV005031423
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 Single Submitter	CA138230735	rs_267608213	3 SubmittersRCV000008592 RCV001239904 RCV005606632
NM_000287.4(PEX6):c.1688+1G>A	SNV Germline	Chr6:42968289	Pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA138225415	rs_112298166	3 SubmittersRCV000008594 RCV002512914 RCV003473057
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	SNV Germline	Chr12:7209700	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder 2B Peroxisome biogenesis disorder 2A (Zellweger) Rhizomelic chondrodysplasia punctata type 5	Criteria Provided Multiple Submitters No Conflicts	CA254664	rs_61752138	6 SubmittersRCV000427819 RCV000009714 RCV000723322 RCV004813031
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)	SNV Germline	Chr12:7208554	Pathogenic	Peroxisome biogenesis disorder 2A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 2B Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B Rhizomelic chondrodysplasia punctata type 5	Criteria Provided Multiple Submitters No Conflicts	CA120141	rs_61752137	4 SubmittersRCV000009715 RCV000483391 RCV001381490 RCV005007835
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)	SNV Germline	Chr8:76983824	Pathogenic	Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Zellweger spectrum disorders Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder PEX2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123377	rs_61752123	11 SubmittersRCV000014703 RCV000032924 RCV001275872 RCV002496363 RCV000589554 RCV004748521 RCV002223176
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)	SNV Germline	Chr8:76984016	Likely pathogenic	Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder	Criteria Provided Single Submitter	CA123379	rs_61752119	2 SubmittersRCV000014704 RCV003323360
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro)	SNV Germline	Chr6:42968377	Pathogenic	Peroxisome biogenesis disorder 4B	No Assertion Criteria Provided	CA129014	rs_387906809	1 SubmittersRCV000023114
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)	SNV Germline	Chr11:45910273	Pathogenic	Peroxisome biogenesis disorder 8B	No Assertion Criteria Provided	CA129142	rs_397514472	1 SubmittersRCV000023295
NM_000288.4(PEX7):c.-45C>T	SNV Unknown	Chr6:136822621	Likely pathogenic	Phytanic acid storage disease Peroxisome biogenesis disorder 9B	Criteria Provided Single Submitter	CA343127	rs_267608252	2 SubmittersRCV000032114 RCV004566793
NM_000288.4(PEX7):c.854A>G (p.His285Arg)	SNV Germline	Chr6:136898192	Pathogenic/Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Condition: not provided Peroxisome biogenesis disorder 9B	Criteria Provided Multiple Submitters No Conflicts	CA343128	rs_62653611	4 SubmittersRCV000032118 RCV000656253 RCV003473247
NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter)	SNV Germline	Chr1:145917809	Pathogenic	Peroxisome biogenesis disorder 14B	No Assertion Criteria Provided	CA130483	rs_397515419	1 SubmittersRCV000032935
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)	SNV Germline	Chr17:35577267	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 3A (Zellweger) Condition: not provided Inborn genetic diseases PEX12-related disorder	Criteria Provided Conflicting Classifications	CA145996	rs_138731505	8 SubmittersRCV000078561 RCV000970690 RCV001729380 RCV002515755 RCV004549499
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)	SNV Germline	Chr8:76983457	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger) PEX2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220656	rs_150734057	5 SubmittersRCV000078631 RCV001085208 RCV003974959 RCV004019529
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)	SNV Germline	Chr8:76984088	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 5A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B PEX2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA220659	rs_149287302	11 SubmittersRCV000078632 RCV000967707 RCV001276118 RCV000660597 RCV003905040 RCV001546509
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)	SNV Germline	Chr7:92502076	Pathogenic	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA220975	rs_398123409	4 SubmittersRCV000078919 RCV000672527 RCV001854392 RCV003474678
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)	SNV Germline	Chr7:92501648	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided	Criteria Provided Conflicting Classifications	CA146658	rs_145430946	8 SubmittersRCV000078921 RCV000356824 RCV001507118 RCV000859827
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)	SNV Germline	Chr7:92494621	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Microcephaly PEX1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA220978	rs_144825021	7 SubmittersRCV000078924 RCV000368382 RCV001277303 RCV001252811 RCV003935024 RCV004791262
NM_000466.3(PEX1):c.330C>G (p.Pro110=)	SNV Germline	Chr7:92519022	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA146663	rs_71560821	8 SubmittersRCV000078927 RCV000358779 RCV001200182 RCV001507135
NM_001351132.2(PEX5):c.1567T>C (p.Leu523=)	SNV Germline	Chr12:7209689	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA221512	rs_144165818	2 SubmittersRCV000079504 RCV001082292
NM_001351132.2(PEX5):c.81C>T (p.Asp27=)	SNV Germline	Chr12:7190458	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA221518	rs_398123572	2 SubmittersRCV000079506 RCV002055121
NM_004565.3(PEX14):c.267C>G (p.Val89=)	SNV Germline	Chr1:10599335	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder	Criteria Provided Conflicting Classifications	CA222775	rs_146359055	3 SubmittersRCV000081149 RCV001081866 RCV003952513
NM_004565.3(PEX14):c.360A>G (p.Ala120=)	SNV Germline	Chr1:10618393	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K Peroxisome biogenesis disorder 13A (Zellweger)	Criteria Provided Conflicting Classifications	CA222777	rs_148479162	4 SubmittersRCV000081150 RCV001079578 RCV001099251
NM_001127649.3(PEX26):c.669C>A (p.Gly223=)	SNV Germline	Chr22:18085113	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA223510	rs_398124339	2 SubmittersRCV000081926 RCV002055214
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)	SNV Germline	Chr22:18085172	Conflicting classifications of pathogenicity	Condition: not provided not specified Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA223512	rs_149153003	5 SubmittersRCV000081927 RCV000259059 RCV000359739 RCV001079497
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	SNV Germline	Chr8:76983431	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) not specified Peroxisome biogenesis disorder 5A (Zellweger) Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 5B	Criteria Provided Conflicting Classifications	CA154235	rs_142645936	13 SubmittersRCV000262649 RCV000117903 RCV001082068 RCV000435678 RCV001835683 RCV001578657
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg)	SNV Germline	Chr8:76983440	Pathogenic	Peroxisome biogenesis disorder 5A (Zellweger)	No Assertion Criteria Provided	CA163284	rs_61752128	1 SubmittersRCV000128530
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter)	SNV Germline	Chr8:76983510	Pathogenic	Peroxisome biogenesis disorder 5B	No Assertion Criteria Provided	CA163286	rs_61752127	1 SubmittersRCV000128531
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 Peroxisome biogenesis disorder 6A (Zellweger) Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA175037	rs_724160000	7 SubmittersRCV000149810 RCV000675117 RCV001206752 RCV003474799 RCV003133148
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)	Criteria Provided Conflicting Classifications	CA175039	rs_724160001	6 SubmittersRCV000149811 RCV000675089 RCV000728635 RCV001246837 RCV003474800
NM_002617.4(PEX10):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:2412501	Pathogenic	Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA175040	rs_724160002	4 SubmittersRCV000149812 RCV000665679 RCV001850029 RCV003155088
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)	SNV Germline	Chr1:2406766	Pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6B Zellweger spectrum disorders Peroxisome biogenesis disorder Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B	Criteria Provided Multiple Submitters No Conflicts	CA175042	rs_61752092	6 SubmittersRCV000677268 RCV001208724 RCV000149813 RCV001831930 RCV001844050 RCV000666851
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)	SNV Germline	Chr8:76983910	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger) PEX2-related disorder	Criteria Provided Conflicting Classifications	CA234531	rs_146354196	3 SubmittersRCV000153683 RCV001081360 RCV003937430
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)	SNV Germline	Chr1:10629677	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K not specified	Criteria Provided Conflicting Classifications	CA234527	rs_727504081	3 SubmittersRCV000153678 RCV001211203 RCV003330512
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_001351132.2(PEX5):c.396T>C (p.Thr132=)	SNV Germline	Chr12:7191648	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA234535	rs_370827246	3 SubmittersRCV000153687 RCV001446164 RCV003952754
NM_001351132.2(PEX5):c.471C>T (p.Ala157=)	SNV Germline	Chr12:7199033	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA234538	rs_144331955	2 SubmittersRCV000153688 RCV001085438
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)	SNV Germline	Chr12:7208520	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA234541	rs_138243167	3 SubmittersRCV000153689 RCV001085951 RCV003917506
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_000287.4(PEX6):c.306G>T (p.Ala102=)	SNV Germline	Chr6:42978845	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder PEX6-related disorder	Criteria Provided Conflicting Classifications	CA234546	rs_727504083	3 SubmittersRCV000153692 RCV001088358 RCV004551327
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)	SNV Germline	Chr6:136822739	Conflicting classifications of pathogenicity	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Conflicting Classifications	CA274123	rs_61753236	3 SubmittersRCV000169280 RCV000654914
NM_000288.4(PEX7):c.188+1G>C	SNV Germline	Chr6:136825272	Pathogenic/Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Peroxisome biogenesis disorder 9B Phytanic acid storage disease Rhizomelic chondrodysplasia punctata type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274207	rs_267608254	6 SubmittersRCV000169353 RCV001068245 RCV002485052 RCV003233479
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)	SNV Germline	Chr6:136845675	Pathogenic/Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273876	rs_764346452	3 SubmittersRCV000169000 RCV003474894 RCV004700520
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	SNV Germline	Chr6:136866718	Pathogenic/Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Condition: not provided Peroxisome biogenesis disorder 9B	Criteria Provided Multiple Submitters No Conflicts	CA274350	rs_61753245	7 SubmittersRCV000169479 RCV000578930 RCV001380052
NM_000466.3(PEX1):c.2926+2T>C	SNV Germline	Chr7:92494485	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder type 1A Zellweger spectrum disorders Peroxisome biogenesis disorder Condition: not provided Heimler syndrome 1 Heimler syndrome 1 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA274236	rs_267608180	8 SubmittersRCV000169385 RCV001250202 RCV001215871 RCV002307427 RCV002291587 RCV003474911 RCV005031695
NM_000466.3(PEX1):c.2926+1G>A	SNV Germline	Chr7:92494486	Pathogenic/Likely pathogenic	Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Heimler syndrome 1 Inborn genetic diseases Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA273894	rs_267608179	9 SubmittersRCV000599041 RCV002228604 RCV001332473 RCV003474896 RCV002516527 RCV004555855 RCV001194281 RCV001810430
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	SNV Germline	Chr7:92501923	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Peroxisome biogenesis disorder Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA274065	rs_61750418	8 SubmittersRCV000169227 RCV000657614 RCV001004323 RCV001220088 RCV002265653 RCV003474901 RCV005031692
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)	SNV Germline	Chr7:92528433	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Single Submitter	CA274384	rs_786204704	2 SubmittersRCV000169518 RCV003593925
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)	SNV Germline	Chr17:35577384	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger) PEX12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA235963	rs_776731688	7 SubmittersRCV000171254 RCV000675037 RCV000679868 RCV004552945
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)	SNV Germline	Chr22:18078604	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA236171	rs_786205556	5 SubmittersRCV000171354 RCV001808443 RCV001852066
NM_000288.4(PEX7):c.130+10C>A	SNV Germline	Chr6:136822805	Conflicting classifications of pathogenicity	Condition: not provided PEX7-related disorder Peroxisome biogenesis disorder 9B	Criteria Provided Conflicting Classifications	CA238582	rs_794726882	3 SubmittersRCV000173101 RCV004539594 RCV001461024
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 Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B PEX6-related disorder	Criteria Provided Conflicting Classifications	CA239465	rs_142899308	7 SubmittersRCV000173992 RCV000404054 RCV001083109 RCV001276732 RCV002517668 RCV005396525 RCV004552959
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_001351132.2(PEX5):c.1413G>C (p.Val471=)	SNV Germline	Chr12:7209023	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA240282	rs_115760878	3 SubmittersRCV000174708 RCV001113433 RCV001078686
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_002618.4(PEX13):c.229T>A (p.Ser77Thr)	SNV Germline	Chr2:61031555	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 11A (Zellweger) Condition: not provided PEX13-related disorder	Criteria Provided Conflicting Classifications	CA241469	rs_150161574	5 SubmittersRCV000175727 RCV000879718 RCV003480075 RCV004552975
NM_003630.3(PEX3):c.165A>G (p.Gln55=)	SNV Germline	Chr6:143459176	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 10A (Zellweger)	Criteria Provided Conflicting Classifications	CA241511	rs_41285015	3 SubmittersRCV000175752 RCV000304969
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)	SNV Germline	Chr22:18078506	Conflicting classifications of pathogenicity	not specified Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA201672	rs_150895887	7 SubmittersRCV000175899 RCV000224312 RCV001137939 RCV001085384
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)	SNV Germline	Chr2:61045831	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 11A (Zellweger) Peroxisome biogenesis disorder 11B Peroxisome biogenesis disorder 11A (Zellweger) PEX13-related disorder	Criteria Provided Conflicting Classifications	CA243275	rs_138545154	5 SubmittersRCV000177163 RCV001250088 RCV000981678 RCV004552990
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)	SNV Germline	Chr11:45916248	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 8A (Zellweger) Condition: not provided Peroxisome biogenesis disorder PEX16-related disorder	Criteria Provided Conflicting Classifications	CA243335	rs_149348130	5 SubmittersRCV000177215 RCV000358606 RCV000766831 RCV001079444 RCV003955053
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)	SNV Germline	Chr22:18083708	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A (Zellweger) PEX26-related disorder	Criteria Provided Conflicting Classifications	CA245382	rs_138232280	5 SubmittersRCV000178314 RCV000983944 RCV000302632 RCV003927659
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	8 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 Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 PEX10-related disorder	Criteria Provided Conflicting Classifications	CA245493	rs_199934621	5 SubmittersRCV000178399 RCV001272161 RCV000315166 RCV001086346 RCV003907615
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)	SNV Germline	Chr7:92517850	Conflicting classifications of pathogenicity	Condition: not provided Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA245941	rs_773922257	3 SubmittersRCV000178773 RCV000764731 RCV002516781
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)	SNV Germline	Chr7:92517504	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA203013	rs_142018583	4 SubmittersRCV000178774 RCV000906584 RCV001507201
NM_000288.4(PEX7):c.576C>T (p.Ile192=)	SNV Germline	Chr6:136866676	Conflicting classifications of pathogenicity	Condition: not provided Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Conflicting Classifications	CA246556	rs_776411851	6 SubmittersRCV000179285 RCV000301749 RCV000265395
NM_001127649.3(PEX26):c.815-10T>G	SNV Germline	Chr22:18087962	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA246765	rs_794727805	2 SubmittersRCV000179497 RCV002054132
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly)	SNV Germline	Chr1:10624427	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K Peroxisome biogenesis disorder 13A (Zellweger) Inborn genetic diseases PEX14-related disorder	Criteria Provided Conflicting Classifications	CA247197	rs_147706488	5 SubmittersRCV000179889 RCV000690356 RCV000764928 RCV002516805 RCV003917676
NM_004813.4(PEX16):c.543G>A (p.Thr181=)	SNV Germline	Chr11:45914467	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA247210	rs_144063598	2 SubmittersRCV000179897 RCV001088669
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 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder Retinal dystrophy PEX6-related disorder Peroxisome biogenesis disorder 4B	Criteria Provided Conflicting Classifications	CA210643	rs_34324426	26 SubmittersRCV000180127 RCV000201298 RCV000424129 RCV000779504 RCV000675148 RCV000850505 RCV001081170 RCV001075628 RCV001265584 RCV003987426
NM_004813.4(PEX16):c.695-6C>T	SNV Germline	Chr11:45914209	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder 8B Inborn genetic diseases Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA247651	rs_372182266	5 SubmittersRCV000180266 RCV001105494 RCV000763741 RCV002516814 RCV001455520
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 Zellweger spectrum disorders Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 PEX6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210642	rs_61753219	13 SubmittersRCV000201297 RCV000666553 RCV000622824 RCV000735222 RCV001276623 RCV001193476 RCV001808558 RCV002243878 RCV005031753 RCV004737319
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	Criteria Provided Conflicting Classifications	CA210645	rs_769896492	5 SubmittersRCV000201306 RCV001328449 RCV001853224 RCV004737320 RCV005031754
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)	SNV Germline	Chr7:92503153	Conflicting classifications of pathogenicity	Heimler syndrome 1 Retinal dystrophy Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) PEX1-related disorder not specified Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA279184	rs_863225084	6 SubmittersRCV000201290 RCV001075286 RCV001810437 RCV003417729 RCV004701263 RCV002517304
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	SNV Germline	Chr7:92507055	Pathogenic/Likely pathogenic	Heimler syndrome 1 Zellweger spectrum disorders Retinal dystrophy Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA210119	rs_370483961	6 SubmittersRCV000201302 RCV001377625 RCV001075087 RCV002500626
NM_000466.3(PEX1):c.1239+1G>T	SNV Germline	Chr7:92517275	Pathogenic	Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder Condition: not provided PEX1-related disorder Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA210121	rs_756876301	9 SubmittersRCV000201308 RCV000633316 RCV001004518 RCV001376605 RCV001526999 RCV001795328 RCV003422106 RCV005031756
NM_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	Criteria Provided Multiple Submitters No Conflicts	CA10575897	rs_61753224	5 SubmittersRCV000240689 RCV001795343 RCV002500674
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)	SNV Germline	Chr6:42978497	Conflicting classifications of pathogenicity	Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B not specified	Criteria Provided Conflicting Classifications	CA10575898	rs_886037779	3 SubmittersRCV000240712 RCV000675085 RCV004689680
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	SNV Germline	Chr7:92494357	Pathogenic/Likely pathogenic	Heimler syndrome 1 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided Inborn genetic diseases Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA4340947	rs_61750427	7 SubmittersRCV000240787 RCV001004317 RCV002229187 RCV002251446 RCV002515571 RCV005042454 RCV003226251
NM_002617.4(PEX10):c.776+1G>C	SNV Germline	Chr1:2406719	Pathogenic/Likely pathogenic	Inborn genetic diseases Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Multiple Submitters No Conflicts	CA358179	rs_869312935	2 SubmittersRCV000210672 RCV002515587
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_004565.3(PEX14):c.36+8G>A	SNV Germline	Chr1:10475010	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 13A (Zellweger) Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583666	rs_200154696	4 SubmittersRCV000248358 RCV000298360 RCV000887578
NM_002617.4(PEX10):c.194-5C>T	SNV Germline	Chr1:2408863	Conflicting classifications of pathogenicity	not specified Condition: not provided Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA538249	rs_375032738	4 SubmittersRCV000250225 RCV000725181 RCV000377774 RCV001504205
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	SNV Germline	Chr7:92499808	Pathogenic	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder See cases Heimler syndrome 1 Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA4341072	rs_61750422	11 SubmittersRCV000254886 RCV001004321 RCV001063888 RCV001376587 RCV001260325 RCV002252071 RCV003475860 RCV001814132
NM_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_000287.4(PEX6):c.2148G>A (p.Glu716=)	SNV Germline	Chr6:42966394	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA10603898	rs_766104579	2 SubmittersRCV000339687 RCV002059081
NM_001127649.3(PEX26):c.558C>T (p.Ala186=)	SNV Germline	Chr22:18083623	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10093353	rs_372621690	2 SubmittersRCV000339692 RCV002059084
NM_002857.4(PEX19):c.181-5C>T	SNV Germline	Chr1:160283114	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 12A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA1197441	rs_199818690	4 SubmittersRCV001089126 RCV000403747
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)	SNV Germline	Chr12:7208077	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426380	rs_145690714	3 SubmittersRCV000307470 RCV001087319 RCV003955435
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)	SNV Germline	Chr6:42969947	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder Condition: not provided PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811422	rs_150046979	6 SubmittersRCV000380106 RCV000946950 RCV001576141 RCV004547662
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 6A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA10604149	rs_62641225	5 SubmittersRCV000289565 RCV001381855 RCV001833319 RCV003475892 RCV003155147
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)	SNV Germline	Chr8:76983970	Conflicting classifications of pathogenicity	not specified Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B	Criteria Provided Conflicting Classifications	CA4788753	rs_35689779	10 SubmittersRCV000382602 RCV000514881 RCV001086854 RCV001578804
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)	SNV Germline	Chr7:92489847	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340805	rs_182452430	7 SubmittersRCV000283658 RCV000764728 RCV001275210
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)	SNV Germline	Chr7:92494571	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340995	rs_374167385	6 SubmittersRCV000304199 RCV000311034 RCV001240601 RCV003930068
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)	SNV Germline	Chr1:2406500	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger) PEX10-related disorder	Criteria Provided Conflicting Classifications	CA537986	rs_78620392	6 SubmittersRCV000403122 RCV001086392 RCV001272149 RCV000398333 RCV003930089
NM_002857.4(PEX19):c.261C>T (p.Phe87=)	SNV Germline	Chr1:160283029	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 12A (Zellweger) PEX19-related disorder	Criteria Provided Conflicting Classifications	CA1197426	rs_146644725	4 SubmittersRCV000288367 RCV000650590 RCV003930092
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)	SNV Germline	Chr7:92493054	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders Inborn genetic diseases Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Conflicting Classifications	CA4340902	rs_754130942	6 SubmittersRCV000350916 RCV001277300 RCV003165737 RCV002480020
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)	SNV Germline	Chr7:92517878	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders Inborn genetic diseases PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341565	rs_141798874	10 SubmittersRCV000306324 RCV000889675 RCV001355075 RCV001420972 RCV004955376 RCV003977775
NM_000466.3(PEX1):c.468A>G (p.Gln156=)	SNV Germline	Chr7:92518145	Conflicting classifications of pathogenicity	not specified Zellweger spectrum disorders PEX1-related disorder Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA4341604	rs_149729088	6 SubmittersRCV000271066 RCV001507194 RCV003940002 RCV000543039 RCV003437049
NM_004565.3(PEX14):c.474C>T (p.Ser158=)	SNV Germline	Chr1:10623108	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583855	rs_145867351	2 SubmittersRCV000385651 RCV001415300
NM_004565.3(PEX14):c.451G>A (p.Gly151Ser)	SNV Germline	Chr1:10623085	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA583852	rs_145888212	3 SubmittersRCV000263253 RCV001859620 RCV003298340
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)	SNV Germline	Chr6:42978298	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder not specified Zellweger spectrum disorders Condition: not provided PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811549	rs_61753220	8 SubmittersRCV000387310 RCV000709968 RCV000344101 RCV001276622 RCV002225576 RCV004547701
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)	SNV Germline	Chr22:18079968	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA10093288	rs_45567240	6 SubmittersRCV000309036 RCV000960589 RCV001140188 RCV001547434
NM_000286.3(PEX12):c.452G>A (p.Arg151His)	SNV Germline	Chr17:35577266	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 3A (Zellweger) Inborn genetic diseases PEX12-related disorder	Criteria Provided Conflicting Classifications	CA8504906	rs_150186509	4 SubmittersRCV000275125 RCV001080036 RCV002521937 RCV004547702
NM_004565.3(PEX14):c.795A>G (p.Ser265=)	SNV Germline	Chr1:10629648	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 13A (Zellweger) Peroxisome biogenesis disorder, complementation group K Condition: not provided	Criteria Provided Conflicting Classifications	CA583967	rs_41274484	4 SubmittersRCV000318532 RCV000278785 RCV000960509 RCV003422198
NM_002857.4(PEX19):c.195T>C (p.Ala65=)	SNV Germline	Chr1:160283095	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197436	rs_777582215	2 SubmittersRCV000294763 RCV001418385
NM_000287.4(PEX6):c.2619T>C (p.Asn873=)	SNV Germline	Chr6:42965122	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA10605438	rs_886043369	2 SubmittersRCV000327168 RCV002519229
NM_000466.3(PEX1):c.1360-7C>T	SNV Germline	Chr7:92511710	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA4341414	rs_371890000	6 SubmittersRCV000268203 RCV001080221 RCV001277309 RCV001336887 RCV004816504
NM_004565.3(PEX14):c.825G>A (p.Ser275=)	SNV Germline	Chr1:10629678	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 13A (Zellweger) not specified Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583974	rs_143412169	3 SubmittersRCV000317627 RCV000346590 RCV000887202
NM_002617.4(PEX10):c.915G>A (p.Ala305=)	SNV Germline	Chr1:2405832	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA537953	rs_374891812	4 SubmittersRCV000393024 RCV001082724 RCV001101219 RCV001277100
NM_004813.4(PEX16):c.1002T>C (p.Ser334=)	SNV Germline	Chr11:45910263	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5959717	rs_144897515	4 SubmittersRCV000313548 RCV000383174 RCV001087855
NM_001351132.2(PEX5):c.135G>C (p.Pro45=)	SNV Germline	Chr12:7190512	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426008	rs_761885230	3 SubmittersRCV000304472 RCV002055069
NM_001351132.2(PEX5):c.258C>T (p.Asp86=)	SNV Germline	Chr12:7191300	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426074	rs_144351488	3 SubmittersRCV000365150 RCV001471245 RCV003920118
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)	SNV Germline	Chr12:7209829	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426550	rs_151312595	4 SubmittersRCV000290125 RCV001114831 RCV001087261 RCV003930128
NM_001351132.2(PEX5):c.663G>A (p.Gln221=)	SNV Germline	Chr12:7202261	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA10605665	rs_886043565	2 SubmittersRCV000397129 RCV001498915
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)	SNV Germline	Chr2:61045818	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder 11B Peroxisome biogenesis disorder 11A (Zellweger) Peroxisome biogenesis disorder 11B	Criteria Provided Conflicting Classifications	CA1673368	rs_373118250	8 SubmittersRCV000493263 RCV001308586 RCV002469099 RCV002285016 RCV005025427
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)	SNV Germline	Chr22:18088068	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A (Zellweger) PEX26-related disorder	Criteria Provided Conflicting Classifications	CA10093453	rs_17851387	5 SubmittersRCV000374196 RCV000650266 RCV001146685 RCV003940029
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)	SNV Germline	Chr17:35576140	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 3A (Zellweger) PEX12-related disorder	Criteria Provided Conflicting Classifications	CA8504854	rs_139417458	5 SubmittersRCV000287024 RCV001083308 RCV004549596
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)	SNV Germline	Chr22:18083474	Conflicting classifications of pathogenicity	not specified Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B PEX26-related disorder Peroxisome biogenesis disorder 7A (Zellweger)	Criteria Provided Conflicting Classifications	CA10093320	rs_142648687	7 SubmittersRCV000296353 RCV001731563 RCV000883540 RCV003920124 RCV001140189
NM_004813.4(PEX16):c.887+9C>A	SNV Germline	Chr11:45913810	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder PEX16-related disorder	Criteria Provided Conflicting Classifications	CA5959786	rs_370590743	3 SubmittersRCV000388189 RCV001436337 RCV003949903
NM_001127649.3(PEX26):c.198C>T (p.Ala66=)	SNV Germline	Chr22:18078574	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 7A (Zellweger) not specified Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10093242	rs_374290931	3 SubmittersRCV000293503 RCV000326011 RCV000931054
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)	SNV Germline	Chr1:160285109	Conflicting classifications of pathogenicity	not specified Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197520	rs_145845197	6 SubmittersRCV000380642 RCV000884183 RCV001083281
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)	SNV Germline	Chr7:92493129	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340911	rs_141650598	8 SubmittersRCV000298949 RCV000345924 RCV000766589 RCV001277301 RCV003977800
NM_004565.3(PEX14):c.299-8G>A	SNV Germline	Chr1:10618324	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder	Criteria Provided Conflicting Classifications	CA583790	rs_112851814	3 SubmittersRCV000351423 RCV001085340 RCV003957497
NM_000287.4(PEX6):c.612A>G (p.Ser204=)	SNV Germline	Chr6:42978539	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA10606065	rs_886043877	2 SubmittersRCV000310640 RCV002521990
NM_002857.4(PEX19):c.255G>A (p.Ala85=)	SNV Germline	Chr1:160283035	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger) PEX19-related disorder	Criteria Provided Conflicting Classifications	CA1197427	rs_150928521	3 SubmittersRCV000361993 RCV001079090 RCV003940051
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_001127649.3(PEX26):c.200A>G (p.Asn67Ser)	SNV Germline	Chr22:18078576	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B PEX26-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10093243	rs_201884779	7 SubmittersRCV000338698 RCV000765604 RCV003930152 RCV000726167
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn)	SNV Germline	Chr6:42969898	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 4A (Zellweger)	Criteria Provided Conflicting Classifications	CA10606197	rs_886043987	3 SubmittersRCV000294422 RCV003229590
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_001127649.3(PEX26):c.497G>A (p.Arg166Gln)	SNV Germline	Chr22:18083562	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B PEX26-related disorder	Criteria Provided Conflicting Classifications	CA10093338	rs_34194489	4 SubmittersRCV000385335 RCV001514036 RCV003977805
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)	SNV Germline	Chr2:61031468	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger) PEX13-related disorder	Criteria Provided Conflicting Classifications	CA1673247	rs_60203778	3 SubmittersRCV000318147 RCV001057894 RCV004549611
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)	SNV Germline	Chr12:7201803	Conflicting classifications of pathogenicity	not specified Condition: not provided Peroxisome biogenesis disorder 2B Peroxisome biogenesis disorder 2A (Zellweger) PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426202	rs_149102738	6 SubmittersRCV000262302 RCV000676016 RCV001082425 RCV000386382 RCV003910030
NM_003630.3(PEX3):c.578+8A>G	SNV Germline	Chr6:143471619	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 10A (Zellweger)	Criteria Provided Conflicting Classifications	CA4029624	rs_200807211	4 SubmittersRCV000351375 RCV001156184
NM_002617.4(PEX10):c.333C>T (p.Leu111=)	SNV Germline	Chr1:2408719	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7 PEX10-related disorder	Criteria Provided Conflicting Classifications	CA538207	rs_781710848	3 SubmittersRCV000356298 RCV001443120 RCV003977809
NM_004813.4(PEX16):c.999C>T (p.Tyr333=)	SNV Germline	Chr11:45910266	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder PEX16-related disorder	Criteria Provided Conflicting Classifications	CA5959719	rs_146657010	3 SubmittersRCV000270091 RCV001087447 RCV003930178
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_001127649.3(PEX26):c.786C>G (p.Leu262=)	SNV Germline	Chr22:18085230	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10093410	rs_759864013	2 SubmittersRCV000348701 RCV001435982
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)	SNV Germline	Chr7:92493116	Conflicting classifications of pathogenicity	Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1 PEX1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4340908	rs_185181696	7 SubmittersRCV000332762 RCV001240865 RCV002480047 RCV004752832 RCV004021294
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)	SNV Germline	Chr6:42964896	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 4A (Zellweger) PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3810929	rs_533766104	5 SubmittersRCV000345818 RCV001087849 RCV001833397 RCV000407237 RCV004549619
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)	SNV Germline	Chr6:42969916	Pathogenic/Likely pathogenic	Condition: not provided Heimler syndrome 2 Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA10606756	rs_886044436	3 SubmittersRCV000341180 RCV003475922 RCV002518133
NM_001127649.3(PEX26):c.540A>G (p.Leu180=)	SNV Germline	Chr22:18083605	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10606937	rs_374381444	2 SubmittersRCV000292209 RCV001414499
NM_000288.4(PEX7):c.330C>T (p.His110=)	SNV Germline	Chr6:136826460	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 PEX7-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4017551	rs_199648976	5 SubmittersRCV000366386 RCV001088047 RCV001274736 RCV004543144 RCV005452975
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)	SNV Germline	Chr8:76983384	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 5A (Zellweger) Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4788653	rs_764785488	3 SubmittersRCV001078844 RCV000405154 RCV001275869
NM_001351132.2(PEX5):c.693C>T (p.Ser231=)	SNV Germline	Chr12:7202291	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426241	rs_140332077	2 SubmittersRCV000361889 RCV002059308
NM_002857.4(PEX19):c.21C>G (p.Gly7=)	SNV Germline	Chr1:160285104	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197517	rs_140039683	3 SubmittersRCV000322457 RCV001084633
NM_002857.4(PEX19):c.162G>T (p.Ser54=)	SNV Germline	Chr1:160283548	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197462	rs_540593146	2 SubmittersRCV000346914 RCV002059310
NM_004565.3(PEX14):c.567C>T (p.His189=)	SNV Germline	Chr1:10624419	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583889	rs_147210317	2 SubmittersRCV000390426 RCV001089430
NM_000288.4(PEX7):c.339+10A>G	SNV Germline	Chr6:136826479	Conflicting classifications of pathogenicity	not specified Condition: not provided Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1	Criteria Provided Conflicting Classifications	CA4017556	rs_374668045	6 SubmittersRCV000367539 RCV000726667 RCV001521874 RCV001274737
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_003630.3(PEX3):c.473C>G (p.Pro158Arg)	SNV Germline	Chr6:143471399	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 10A (Zellweger) PEX3-related disorder	Criteria Provided Conflicting Classifications	CA4029590	rs_199781957	4 SubmittersRCV000274339 RCV000317753 RCV004730925
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu)	SNV Germline	Chr1:10629846	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 13A (Zellweger) Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA584014	rs_79954820	2 SubmittersRCV000295252 RCV001418898
NM_004565.3(PEX14):c.297C>T (p.Tyr99=)	SNV Germline	Chr1:10599365	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 13A (Zellweger) Peroxisome biogenesis disorder, complementation group K Condition: not provided	Criteria Provided Conflicting Classifications	CA583768	rs_371473184	3 SubmittersRCV000314462 RCV001201797 RCV001726092
NM_004565.3(PEX14):c.381C>T (p.Tyr127=)	SNV Germline	Chr1:10618414	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 13A (Zellweger) Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583812	rs_372630614	3 SubmittersRCV000270298 RCV000596100 RCV001078514
NM_004565.3(PEX14):c.855C>G (p.Gly285=)	SNV Germline	Chr1:10629708	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 13A (Zellweger) Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583982	rs_201107513	2 SubmittersRCV000374546 RCV001465781
NM_002857.4(PEX19):c.630A>C (p.Leu210=)	SNV Germline	Chr1:160280211	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197287	rs_202174805	2 SubmittersRCV000369356 RCV002059339
NM_002857.4(PEX19):c.-4C>T	SNV Germline	Chr1:160285128	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 12A (Zellweger) Condition: not provided PEX19-related disorder not specified	Criteria Provided Conflicting Classifications	CA1197524	rs_201541204	5 SubmittersRCV000283780 RCV000592505 RCV004739665 RCV005418063
NM_002857.4(PEX19):c.459G>A (p.Leu153=)	SNV Germline	Chr1:160282174	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 12A (Zellweger) PEX19-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1197346	rs_78340311	5 SubmittersRCV000728128 RCV000910722 RCV003957533 RCV002059340
NM_002857.4(PEX19):c.402T>C (p.Ser134=)	SNV Germline	Chr1:160282447	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197373	rs_139828188	4 SubmittersRCV000594553 RCV001085129
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)	SNV Germline	Chr1:160282135	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger) PEX19-related disorder	Criteria Provided Conflicting Classifications	CA1197336	rs_142780305	4 SubmittersRCV000597624 RCV001084547 RCV003940089
NM_002857.4(PEX19):c.347-7C>T	SNV Germline	Chr1:160282509	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 12A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA1197386	rs_753523567	3 SubmittersRCV000317733 RCV000731169
NM_002857.4(PEX19):c.181-4G>T	SNV Germline	Chr1:160283113	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA10608517	rs_747572423	2 SubmittersRCV000372399
NM_002617.4(PEX10):c.776+8C>T	SNV Germline	Chr1:2406712	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 PEX10-related disorder	Criteria Provided Conflicting Classifications	CA538035	rs_370594705	3 SubmittersRCV000400274 RCV000903499 RCV003930232
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)	SNV Germline	Chr1:2406785	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA538063	rs_761005209	3 SubmittersRCV000354897 RCV000667713 RCV001499270
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 Zellweger spectrum disorders PEX10-related disorder Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA538213	rs_140340426	5 SubmittersRCV000269378 RCV000730829 RCV001272169 RCV003957548 RCV001083113
NM_002617.4(PEX10):c.601-75G>A	SNV Germline	Chr1:2406970	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA10610738	rs_369211467	2 SubmittersRCV000367525 RCV003535686
NM_002617.4(PEX10):c.555C>T (p.His185=)	SNV Germline	Chr1:2408497	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA538137	rs_75377471	4 SubmittersRCV000275159 RCV001087429 RCV000731758 RCV001272165
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)	SNV Germline	Chr1:2408634	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Condition: not provided Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Inborn genetic diseases PEX10-related disorder	Criteria Provided Conflicting Classifications	CA538184	rs_76530653	9 SubmittersRCV000309150 RCV000676044 RCV001037362 RCV001272167 RCV002480074 RCV002520466 RCV003957547
NM_002617.4(PEX10):c.280G>A (p.Val94Met)	SNV Germline	Chr1:2408772	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder, complementation group 7 Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA538226	rs_142626035	3 SubmittersRCV000378821 RCV000922425 RCV001835774
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)	SNV Germline	Chr2:61031681	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger) not specified PEX13-related disorder	Criteria Provided Conflicting Classifications	CA1673288	rs_147707348	6 SubmittersRCV000882202 RCV001081489 RCV000594107 RCV004549765
NM_002618.4(PEX13):c.417A>G (p.Ala139=)	SNV Germline	Chr2:61031743	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA10614205	rs_886056197	2 SubmittersRCV000344942
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)	SNV Germline	Chr2:61045794	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger) PEX13-related disorder	Criteria Provided Conflicting Classifications	CA1673366	rs_201699810	4 SubmittersRCV000592320 RCV001083100 RCV004549766
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)	SNV Germline	Chr2:61031664	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 11A (Zellweger) PEX13-related disorder	Criteria Provided Conflicting Classifications	CA1673282	rs_202077756	3 SubmittersRCV000389018 RCV004549764
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)	SNV Germline	Chr2:61048716	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA1673440	rs_371789976	2 SubmittersRCV000396571
NM_002618.4(PEX13):c.*2356T>C	SNV Germline	Chr2:61051126	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 11A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA10615906	rs_139999174	2 SubmittersRCV000261484 RCV003437072
NM_003630.3(PEX3):c.51C>T (p.Ile17=)	SNV Germline	Chr6:143451093	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 10A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA4029430	rs_367803197	2 SubmittersRCV000358110 RCV002058558
NM_003630.3(PEX3):c.*220G>A	SNV Germline	Chr6:143489446	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 10A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA10621541	rs_117247312	2 SubmittersRCV000386612 RCV003430920
NM_000287.4(PEX6):c.2877A>G (p.Gln959=)	SNV Germline	Chr6:42964401	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3810877	rs_562040179	2 SubmittersRCV000350596 RCV001861278
NM_000287.4(PEX6):c.1234-10C>T	SNV Germline	Chr6:42969811	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811387	rs_370661410	2 SubmittersRCV000318534 RCV001442722
NM_000288.4(PEX7):c.94C>T (p.Leu32=)	SNV Germline	Chr6:136822759	Conflicting classifications of pathogenicity	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Condition: not provided Rhizomelic chondrodysplasia punctata Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10623035	rs_886061118	5 SubmittersRCV000377520 RCV001086124 RCV000593941 RCV001833471 RCV005384703
NM_000288.4(PEX7):c.130+11G>T	SNV Germline	Chr6:136822806	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1	Criteria Provided Conflicting Classifications	CA10623037	rs_886061119	2 SubmittersRCV000279742 RCV000378803
NM_000288.4(PEX7):c.130+13C>A	SNV Germline	Chr6:136822808	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1	Criteria Provided Conflicting Classifications	CA10623038	rs_886061120	2 SubmittersRCV000338400 RCV000374317
NM_000288.4(PEX7):c.418-4G>T	SNV Germline	Chr6:136846069	Conflicting classifications of pathogenicity	Rhizomelic chondrodysplasia punctata type 1 Condition: not provided Peroxisome biogenesis disorder 9B PEX7-related disorder	Criteria Provided Conflicting Classifications	CA4017610	rs_199552223	6 SubmittersRCV000309986 RCV000598492 RCV001080653 RCV004544666
NM_000287.4(PEX6):c.1234-11A>G	SNV Germline	Chr6:42969812	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811388	rs_201879957	2 SubmittersRCV000356970 RCV001452054
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_000288.4(PEX7):c.615C>T (p.Asp205=)	SNV Germline	Chr6:136866715	Conflicting classifications of pathogenicity	Rhizomelic chondrodysplasia punctata type 1 not specified Condition: not provided Peroxisome biogenesis disorder 9B Inborn genetic diseases PEX7-related disorder	Criteria Provided Conflicting Classifications	CA4017665	rs_147298444	11 SubmittersRCV000360999 RCV000593142 RCV001727703 RCV000887799 RCV002356486 RCV004530433
NM_003630.3(PEX3):c.249A>G (p.Gln83=)	SNV Germline	Chr6:143462959	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 10A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA4029510	rs_139760270	2 SubmittersRCV000260163 RCV000887892
NM_000288.4(PEX7):c.748-10T>C	SNV Germline	Chr6:136872188	Conflicting classifications of pathogenicity	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Conflicting Classifications	CA10626108	rs_886061122	2 SubmittersRCV000263734 RCV000318897
NM_000288.4(PEX7):c.804-5C>T	SNV Germline	Chr6:136898137	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1	Criteria Provided Conflicting Classifications	CA4017778	rs_369653173	2 SubmittersRCV000293074 RCV000387363
NM_000288.4(PEX7):c.*38G>A	SNV Germline	Chr6:136913564	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1	Criteria Provided Conflicting Classifications	CA4017823	rs_41288965	1 SubmittersRCV000340735 RCV000407255
NM_000288.4(PEX7):c.*272A>G	SNV Germline	Chr6:136913798	Conflicting classifications of pathogenicity	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Conflicting Classifications	CA10626113	rs_186705952	1 SubmittersRCV000297765 RCV000407245
NM_003630.3(PEX3):c.96T>C (p.Tyr32=)	SNV Germline	Chr6:143459107	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 10A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA4029455	rs_201718910	2 SubmittersRCV000266248 RCV002520408
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	SNV Germline	Chr7:92491337	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders Heimler syndrome 1 PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340845	rs_142994610	8 SubmittersRCV000285353 RCV000733368 RCV001507178 RCV001262592 RCV003902401
NM_000466.3(PEX1):c.2927-12T>A	SNV Germline	Chr7:92494408	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340962	rs_375062546	2 SubmittersRCV000396793 RCV002058679
NM_000466.3(PEX1):c.129+10C>T	SNV Germline	Chr7:92528297	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA10626588	rs_886062508	3 SubmittersRCV000306024 RCV002058680
NM_000287.4(PEX6):c.2907G>C (p.Arg969=)	SNV Germline	Chr6:42964371	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA3810866	rs_145243129	3 SubmittersRCV000279268 RCV000966458 RCV001276729
NM_000287.4(PEX6):c.2736G>A (p.Ala912=)	SNV Germline	Chr6:42964860	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA3810919	rs_202049230	4 SubmittersRCV000349557 RCV001083938 RCV000728934 RCV001276730
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)	SNV Germline	Chr6:42967534	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Condition: not provided Peroxisome biogenesis disorder Heimler syndrome 2 Inborn genetic diseases PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811234	rs_140769712	11 SubmittersRCV000306069 RCV000598355 RCV001081040 RCV001262593 RCV002519497 RCV004549811
NM_000287.4(PEX6):c.939T>C (p.Pro313=)	SNV Germline	Chr6:42974982	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder Condition: not provided PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811506	rs_151234121	4 SubmittersRCV000388669 RCV001480949 RCV003430925 RCV004549813
NM_000287.4(PEX6):c.690G>A (p.Glu230=)	SNV Germline	Chr6:42978461	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811585	rs_368341252	3 SubmittersRCV000348080 RCV002058611 RCV004549814
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)	SNV Germline	Chr7:92489723	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA10629628	rs_886062501	2 SubmittersRCV000374492 RCV003758756
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)	SNV Germline	Chr7:92511622	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) PEX1-related disorder Condition: not provided Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4341401	rs_139919229	5 SubmittersRCV000348562 RCV003932488 RCV000598077 RCV001507172
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)	SNV Germline	Chr7:92511683	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341409	rs_565049190	5 SubmittersRCV000728937 RCV000405009 RCV001277057 RCV003970059
NM_004813.4(PEX16):c.694+11C>T	SNV Germline	Chr11:45914305	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5959875	rs_763840804	2 SubmittersRCV000281774 RCV002056202
NM_001351132.2(PEX5):c.498A>G (p.Gln166=)	SNV Germline	Chr12:7199060	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426156	rs_756714515	3 SubmittersRCV000323599 RCV002520835 RCV003957610
NM_001351132.2(PEX5):c.552-7G>A	SNV Germline	Chr12:7201744	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426194	rs_189631769	4 SubmittersRCV000329555 RCV000729198 RCV001080298 RCV003940187
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)	SNV Germline	Chr12:7209131	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA6426476	rs_150761638	3 SubmittersRCV000301107 RCV000910717 RCV001200577
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)	SNV Germline	Chr12:7209775	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426536	rs_200215904	3 SubmittersRCV000326811 RCV001510511 RCV004748720
NM_004813.4(PEX16):c.699C>T (p.Leu233=)	SNV Germline	Chr11:45914199	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5959856	rs_781411790	2 SubmittersRCV000385457 RCV002056201
NM_004813.4(PEX16):c.360-7G>A	SNV Germline	Chr11:45915575	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 8A (Zellweger) PEX16-related disorder Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5959989	rs_202161790	3 SubmittersRCV000343383 RCV003930287 RCV001396191
NM_004813.4(PEX16):c.348C>T (p.Val116=)	SNV Germline	Chr11:45915714	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA10634959	rs_886048328	2 SubmittersRCV000390073 RCV002520721
NM_001351132.2(PEX5):c.754-4G>A	SNV Germline	Chr12:7202608	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6426271	rs_111286659	4 SubmittersRCV000351623 RCV001082911 RCV000597250 RCV004955413
NM_001351132.2(PEX5):c.909T>C (p.Ala303=)	SNV Germline	Chr12:7203494	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426311	rs_376649488	2 SubmittersRCV000278913 RCV002520836
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)	SNV Germline	Chr12:7209169	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 2A (Zellweger) not specified Peroxisome biogenesis disorder 2B Microcephaly PEX5-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6426487	rs_139364109	10 SubmittersRCV000729311 RCV000403373 RCV001775113 RCV002307484 RCV001049488 RCV001252798 RCV004748719 RCV002522252
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=)	SNV Germline	Chr12:7210040	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426578	rs_753159772	2 SubmittersRCV000272531 RCV003765814
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)	SNV Germline	Chr12:7210178	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426613	rs_371233272	3 SubmittersRCV000333533 RCV001431944 RCV003967903
NM_004813.4(PEX16):c.726G>A (p.Ser242=)	SNV Germline	Chr11:45914172	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5959847	rs_200414298	3 SubmittersRCV000330989 RCV001411288 RCV003391073
NM_004813.4(PEX16):c.609C>T (p.His203=)	SNV Germline	Chr11:45914401	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder PEX16-related disorder	Criteria Provided Conflicting Classifications	CA5959902	rs_537046144	3 SubmittersRCV000395794 RCV001484687 RCV004745331
NM_000286.3(PEX12):c.84T>C (p.Ser28=)	SNV Germline	Chr17:35577938	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 3A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA8504987	rs_200641558	3 SubmittersRCV001082684 RCV000729344
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)	SNV Germline	Chr12:7209709	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426525	rs_144401814	3 SubmittersRCV000304501 RCV000733444 RCV001455994
NM_001351132.2(PEX5):c.551+15C>T	SNV Germline	Chr12:7199128	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA10643302	rs_886049825	2 SubmittersRCV000288618 RCV002056332
NM_001351132.2(PEX5):c.643-5C>T	SNV Germline	Chr12:7202236	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA10643304	rs_886049826	3 SubmittersRCV000294324 RCV002056333 RCV003897712
NM_001351132.2(PEX5):c.967-15G>A	SNV Germline	Chr12:7207644	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2B Peroxisome biogenesis disorder 2A (Zellweger)	Criteria Provided Conflicting Classifications	CA6426337	rs_201341037	2 SubmittersRCV001451152 RCV000404589
NM_001351132.2(PEX5):c.*81A>C	SNV Germline	Chr12:7210304	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 2A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA10643328	rs_183460108	3 SubmittersRCV000392599 RCV003128613
NM_001127649.3(PEX26):c.230+8C>T	SNV Germline	Chr22:18078614	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10645084	rs_886057245	2 SubmittersRCV000342218 RCV002520040
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)	SNV Germline	Chr17:35575860	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Conflicting Classifications	CA8504806	rs_200283718	4 SubmittersRCV000732703 RCV001079135
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)	SNV Germline	Chr17:35577981	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 3A (Zellweger) Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8504998	rs_193253559	3 SubmittersRCV000920088 RCV004021697
NM_001127649.3(PEX26):c.207C>T (p.Ala69=)	SNV Germline	Chr22:18078583	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B Condition: not provided	Criteria Provided Conflicting Classifications	CA10093245	rs_375516973	3 SubmittersRCV000404709 RCV001080029 RCV000594003
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	Criteria Provided Multiple Submitters No Conflicts	CA16040725	rs_369965266	3 SubmittersRCV000410037 RCV000411504 RCV001290646 RCV002523888
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)	SNV Unknown	Chr6:136822725	Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Single Submitter	CA16041009	rs_1057516882	2 SubmittersRCV000411102 RCV004567883
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	SNV Germline	Chr6:136826407	Pathogenic/Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata Phytanic acid storage disease Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA4017545	rs_763514968	6 SubmittersRCV000409536 RCV001387967 RCV001828373 RCV002502423 RCV002278634
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)	SNV Germline	Chr6:136826464	Pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Multiple Submitters No Conflicts	CA16041012	rs_62653604	3 SubmittersRCV000411360 RCV003475974
NM_000288.4(PEX7):c.633+1G>A	SNV Germline	Chr6:136866734	Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Single Submitter	CA16041017	rs_1057516989	2 SubmittersRCV000411695 RCV001861385
NM_000288.4(PEX7):c.748-2A>G	SNV Germline	Chr6:136872196	Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Multiple Submitters No Conflicts	CA16041019	rs_778862698	3 SubmittersRCV000409011 RCV002523862
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	SNV Germline	Chr7:92489776	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Condition: not provided Zellweger spectrum disorders Heimler syndrome 1 PEX1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16041143	rs_1057517467	5 SubmittersRCV000409527 RCV000411053 RCV000598875 RCV001865276 RCV003475977 RCV004577330
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)	SNV Unknown	Chr7:92489803	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA16041144	rs_1057517480	1 SubmittersRCV000409825 RCV000411784
NM_000466.3(PEX1):c.3208-1G>A	SNV Germline	Chr7:92491503	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided PEX1-related disorder Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041146	rs_1057517518	7 SubmittersRCV000409017 RCV000411432 RCV001376544 RCV000599082 RCV003409567 RCV003475988
NM_000466.3(PEX1):c.2927-2A>G	SNV Germline	Chr7:92494398	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041147	rs_1057517531	3 SubmittersRCV000410270 RCV000412213 RCV001379134 RCV003475992
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	SNV Germline	Chr7:92494538	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041148	rs_1057517481	5 SubmittersRCV000410455 RCV000411996 RCV001004319 RCV001201668 RCV003319350 RCV003475982
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)	SNV Germline	Chr7:92499736	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA16041152	rs_1057517485	5 SubmittersRCV000409416 RCV000411881 RCV001004320 RCV001213658 RCV003475984 RCV005033923
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)	SNV Unknown	Chr7:92499805	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B	No Assertion Criteria Provided	CA16041153	rs_1057517470	1 SubmittersRCV000409499 RCV000411020
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)	SNV Germline	Chr7:92503130	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041155	rs_1057517468	3 SubmittersRCV000410160 RCV000412134 RCV002523885 RCV003475978
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter)	SNV Unknown	Chr7:92504882	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA16041159	rs_1057517464	1 SubmittersRCV000410165 RCV000412147
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)	SNV Unknown	Chr7:92507032	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA16041161	rs_1057517489	1 SubmittersRCV000409232 RCV000411702
NM_000466.3(PEX1):c.1670+1G>T	SNV Germline	Chr7:92509328	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1 Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA16041162	rs_1057517490	3 SubmittersRCV000410364 RCV000411848 RCV003475985 RCV002523887
NM_000466.3(PEX1):c.1670+1G>A	SNV Germline	Chr7:92509328	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA16041163	rs_1057517490	3 SubmittersRCV000409269 RCV000411209 RCV002523889
NM_000466.3(PEX1):c.1587+1G>A	SNV Germline	Chr7:92510943	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041164	rs_1057517469	3 SubmittersRCV000409309 RCV000411742 RCV001212702 RCV003475979
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)	SNV Germline	Chr7:92511003	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4341376	rs_754983126	3 SubmittersRCV000410009 RCV000412445 RCV002523884 RCV003475975
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)	SNV Germline	Chr7:92517968	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Heimler syndrome 1 Heimler syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4341576	rs_149806989	6 SubmittersRCV000409397 RCV000780585 RCV001376604 RCV000411910 RCV002488843 RCV003475991 RCV005425947
NM_000466.3(PEX1):c.358-1G>T	SNV Germline	Chr7:92518256	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA16041173	rs_1057517479	4 SubmittersRCV000409170 RCV000410312 RCV001004523 RCV001861401 RCV004567892 RCV002502434
NM_000466.3(PEX1):c.358-2A>G	SNV Unknown	Chr7:92518257	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B	No Assertion Criteria Provided	CA16041174	rs_1057517500	1 SubmittersRCV000409764 RCV000410357
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)	SNV Unknown	Chr7:92519004	Likely pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA16041175	rs_1057517487	1 SubmittersRCV000409324 RCV000411341
NM_000466.3(PEX1):c.130-1G>C	SNV Unknown	Chr7:92522246	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B	No Assertion Criteria Provided	CA16041176	rs_1028247729	1 SubmittersRCV000411284 RCV000412347
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)	SNV Germline	Chr7:92528434	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA16041177	rs_766020928	3 SubmittersRCV000410653 RCV000411721 RCV002230732 RCV005044618
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:92528434	Pathogenic	Peroxisome biogenesis disorder Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder type 1A Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA4341711	rs_766020928	7 SubmittersRCV001174676 RCV001232745 RCV000410262 RCV000412294 RCV001250203 RCV005033925
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)	SNV Germline	Chr7:92528435	Pathogenic	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16041178	rs_1057517501	4 SubmittersRCV000409502 RCV000411873 RCV000598681 RCV001384497 RCV005033924
NM_000286.3(PEX12):c.126+1G>T	SNV Germline	Chr17:35577895	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 3A (Zellweger) Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B	Criteria Provided Multiple Submitters No Conflicts	CA8504979	rs_144259891	10 SubmittersRCV000412365 RCV000730395 RCV000589854 RCV002505997
NM_002618.4(PEX13):c.937T>G (p.Trp313Gly)	SNV Germline	Chr2:61048495	Pathogenic	Peroxisome biogenesis disorder 11B	No Assertion Criteria Provided	CA16044181	rs_61752113	1 SubmittersRCV000416325
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter)	SNV Germline	Chr22:18079939	Pathogenic	Peroxisome biogenesis disorder 7A (Zellweger)	No Assertion Criteria Provided	CA16044303	rs_62641229	1 SubmittersRCV000416954
NM_003630.3(PEX3):c.898C>T (p.Arg300Ter)	SNV Germline	Chr6:143479155	Pathogenic	Peroxisome biogenesis disorder 10B	No Assertion Criteria Provided	CA4029700	rs_201179294	1 SubmittersRCV000444777
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)	SNV Germline	Chr6:143485201	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 10B Condition: not provided	Criteria Provided Conflicting Classifications	CA16609230	rs_1057523689	3 SubmittersRCV000433323 RCV001851064
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)	SNV Germline	Chr11:45914331	Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA16619326	rs_1064794320	3 SubmittersRCV000480123 RCV002525833
NM_001351132.2(PEX5):c.552-1G>A	SNV Germline	Chr12:7201750	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Multiple Submitters No Conflicts	CA16619587	rs_1064793563	2 SubmittersRCV000481246 RCV002526533
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu)	SNV Germline	Chr12:7210102	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B not specified	Criteria Provided Conflicting Classifications	CA6426593	rs_748956654	3 SubmittersRCV000480471 RCV001856846 RCV005407140
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_001351132.2(PEX5):c.1718+5G>A	SNV Germline	Chr12:7209845	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA603488602	rs_1085307998	2 SubmittersRCV000489259 RCV002526044
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)	SNV Germline	Chr6:136869897	Conflicting classifications of pathogenicity	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B not specified	Criteria Provided Conflicting Classifications	CA365763942	rs_1554333880	3 SubmittersRCV000502761 RCV001865618 RCV004767315
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)	SNV Germline	Chr17:35575853	Pathogenic/Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA8504804	rs_760739894	4 SubmittersRCV000520537 RCV000674819 RCV001378080
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg)	SNV Germline	Chr22:18079996	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B not specified Peroxisome biogenesis disorder 7A (Zellweger)	Criteria Provided Conflicting Classifications	CA321285522	rs_61752135	4 SubmittersRCV000519883 RCV001071380 RCV004767321 RCV003476217
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)	SNV Germline	Chr1:145912346	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 14B	Criteria Provided Multiple Submitters No Conflicts	CA342120925	rs_781984979	2 SubmittersRCV000537988
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)	SNV Germline	Chr1:145916914	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 14B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1055560	rs_781939614	4 SubmittersRCV000525555 RCV000729272
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)	SNV Germline	Chr6:42965262	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA138222058	rs_61753230	5 SubmittersRCV000802431 RCV002248804 RCV004696954
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	SNV Germline	Chr7:92510952	Conflicting classifications of pathogenicity	Condition: not provided not specified Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341372	rs_144942544	15 SubmittersRCV000584993 RCV000591691 RCV000660395 RCV001391319 RCV001578749 RCV001083497 RCV003925755
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)	SNV Germline	Chr6:42969675	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA364155563	rs_1554127491	2 SubmittersRCV000589755
NM_000287.4(PEX6):c.1233+1G>A	SNV Germline	Chr6:42969884	Likely pathogenic	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	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) Peroxisome biogenesis disorder 1B Heimler syndrome 1 Zellweger spectrum disorders Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA4340941	rs_61750428	6 SubmittersRCV000590014 RCV000818703 RCV000984292 RCV000984291 RCV002232225 RCV001783092 RCV005392144
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)	SNV Germline	Chr22:18078561	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Multiple Submitters No Conflicts	CA410265173	rs_1556586479	2 SubmittersRCV000589459 RCV003767341
NM_000286.3(PEX12):c.681-2A>C	SNV Germline	Chr17:35576183	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 3A (Zellweger) Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) PEX12-related disorder	Criteria Provided Conflicting Classifications	CA8504857	rs_187526749	12 SubmittersRCV000668976 RCV000597979 RCV000781709 RCV005010567 RCV004553310
NM_004565.3(PEX14):c.897C>T (p.Gly299=)	SNV Germline	Chr1:10629750	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583992	rs_747580093	2 SubmittersRCV000595957 RCV001245613
NM_002857.4(PEX19):c.30C>G (p.Val10=)	SNV Germline	Chr1:160285095	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197513	rs_144440223	2 SubmittersRCV000596831 RCV001426166
NM_002617.4(PEX10):c.268C>T (p.Leu90=)	SNV Germline	Chr1:2408784	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Zellweger spectrum disorders Condition: not provided	Criteria Provided Conflicting Classifications	CA538231	rs_775772867	4 SubmittersRCV001087511 RCV001095873 RCV001829641 RCV000593622
NM_000287.4(PEX6):c.348C>T (p.Leu116=)	SNV Germline	Chr6:42978803	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811634	rs_746578841	3 SubmittersRCV000591401 RCV001446792
NM_000318.3(PEX2):c.825C>T (p.Asp275=)	SNV Germline	Chr8:76983354	Conflicting classifications of pathogenicity	Zellweger spectrum disorders Peroxisome biogenesis disorder 5A (Zellweger) Condition: not provided PEX2-related disorder	Criteria Provided Conflicting Classifications	CA4788647	rs_367649632	4 SubmittersRCV001279838 RCV001080311 RCV000593351 RCV003925778
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)	SNV Germline	Chr7:92507072	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4341315	rs_150667796	5 SubmittersRCV000593815 RCV001086000 RCV001277307 RCV003927907
NM_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_004565.3(PEX14):c.1116C>T (p.Asn372=)	SNV Germline	Chr1:10629969	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA584036	rs_149856184	2 SubmittersRCV000593007 RCV001089183
NM_002857.4(PEX19):c.564G>A (p.Leu188=)	SNV Germline	Chr1:160282069	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger) PEX19-related disorder	Criteria Provided Conflicting Classifications	CA1197321	rs_149058086	3 SubmittersRCV000592976 RCV001080432 RCV003905524
NM_004565.3(PEX14):c.1107C>T (p.Gly369=)	SNV Germline	Chr1:10629960	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA584033	rs_781098256	2 SubmittersRCV000597363 RCV001084658
NM_002618.4(PEX13):c.534G>T (p.Val178=)	SNV Germline	Chr2:61031860	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA426411626	rs_1162525817	2 SubmittersRCV000595896 RCV003653219
NM_002618.4(PEX13):c.354T>C (p.Phe118=)	SNV Germline	Chr2:61031680	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger) PEX13-related disorder	Criteria Provided Conflicting Classifications	CA1673287	rs_143378216	3 SubmittersRCV000595614 RCV001089344 RCV004553314
NM_002618.4(PEX13):c.307C>T (p.Leu103=)	SNV Germline	Chr2:61031633	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA1673273	rs_767987790	2 SubmittersRCV000597086 RCV003653220
NM_002857.4(PEX19):c.669C>T (p.Ser223=)	SNV Germline	Chr1:160280172	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197281	rs_375907790	2 SubmittersRCV000598495 RCV001860174
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	Criteria Provided Multiple Submitters No Conflicts	CA138238569	rs_1010184002	5 SubmittersRCV000597333 RCV000735223 RCV001384063 RCV003471954
NM_004813.4(PEX16):c.262G>A (p.Val88Met)	SNV Germline	Chr11:45915800	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder 8B PEX16-related disorder	Criteria Provided Conflicting Classifications	CA5960028	rs_567165324	5 SubmittersRCV000597515 RCV001087648 RCV001250061 RCV003945398
NM_002617.4(PEX10):c.627G>A (p.Glu209=)	SNV Germline	Chr1:2406869	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger) Condition: not provided	Criteria Provided Conflicting Classifications	CA538084	rs_141430704	4 SubmittersRCV000598146 RCV000970658 RCV001097564 RCV003409861
NM_000287.4(PEX6):c.1455T>C (p.Ser485=)	SNV Germline	Chr6:42968898	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811328	rs_749798782	2 SubmittersRCV000597049 RCV001401142
NM_004565.3(PEX14):c.299-8G>T	SNV Germline	Chr1:10618324	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583789	rs_112851814	2 SubmittersRCV000596280 RCV001521124
NM_004565.3(PEX14):c.170-4C>A	SNV Germline	Chr1:10599234	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder	Criteria Provided Conflicting Classifications	CA583747	rs_764907398	3 SubmittersRCV000592439 RCV002062040 RCV003962680
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys)	SNV Germline	Chr6:42967478	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Inborn genetic diseases Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B PEX6-related disorder	Criteria Provided Conflicting Classifications	CA3811221	rs_375288192	6 SubmittersRCV000597455 RCV001080745 RCV002532450 RCV005044885 RCV004553317
NM_002857.4(PEX19):c.87C>T (p.Phe29=)	SNV Germline	Chr1:160283623	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197475	rs_141911166	2 SubmittersRCV000593387 RCV001087775
NM_004813.4(PEX16):c.180C>T (p.Leu60=)	SNV Germline	Chr11:45916272	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5960071	rs_779326282	2 SubmittersRCV000596590 RCV001459174
NM_004565.3(PEX14):c.411C>T (p.Gly137=)	SNV Germline	Chr1:10623045	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583843	rs_775297789	2 SubmittersRCV000594413 RCV003758871
NM_001351132.2(PEX5):c.1111-4C>G	SNV Germline	Chr12:7208006	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426373	rs_376699778	3 SubmittersRCV000591338 RCV001078598 RCV003927919
NM_004565.3(PEX14):c.93G>A (p.Thr31=)	SNV Germline	Chr1:10536221	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583712	rs_139797106	2 SubmittersRCV000597054 RCV001467244
NM_000287.4(PEX6):c.1047-4G>T	SNV Germline	Chr6:42974090	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811462	rs_748779475	2 SubmittersRCV000596716 RCV001079046
NM_001127649.3(PEX26):c.668-5G>T	SNV Germline	Chr22:18085107	Conflicting classifications of pathogenicity	Condition: not provided not specified Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B PEX26-related disorder	Criteria Provided Conflicting Classifications	CA10093391	rs_767742108	4 SubmittersRCV000596109 RCV005435046 RCV002065164 RCV004754488
NM_000287.4(PEX6):c.1362G>A (p.Gln454=)	SNV Germline	Chr6:42969673	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA450365887	rs_1360001006	2 SubmittersRCV000595720 RCV002532487
NM_001127649.3(PEX26):c.99G>C (p.Pro33=)	SNV Germline	Chr22:18078475	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B PEX26-related disorder	Criteria Provided Conflicting Classifications	CA513184925	rs_1284941471	3 SubmittersRCV000595573 RCV002062059 RCV003962694
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.1531C>T (p.Leu511=)	SNV Germline	Chr6:42968447	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811305	rs_147567606	2 SubmittersRCV000598437 RCV001397260
NM_002857.4(PEX19):c.162G>A (p.Ser54=)	SNV Germline	Chr1:160283548	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger) PEX19-related disorder	Criteria Provided Conflicting Classifications	CA1197463	rs_540593146	3 SubmittersRCV000596452 RCV001412677 RCV003962696
NM_000287.4(PEX6):c.2493C>T (p.Ala831=)	SNV Germline	Chr6:42965347	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3811002	rs_775778545	3 SubmittersRCV000593283 RCV001492279 RCV005453036
NM_000287.4(PEX6):c.2667-10C>A	SNV Germline	Chr6:42964939	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA658796765	rs_1554126803	2 SubmittersRCV000598219 RCV001854053
NM_001351132.2(PEX5):c.591G>A (p.Thr197=)	SNV Germline	Chr12:7201790	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426199	rs_146024341	2 SubmittersRCV000597574 RCV001406498
NM_001127649.3(PEX26):c.882A>G (p.Ala294=)	SNV Germline	Chr22:18088039	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10093441	rs_751507771	2 SubmittersRCV000598530 RCV001082778
NM_000288.4(PEX7):c.126C>T (p.Ile42=)	SNV Germline	Chr6:136822791	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 9B	Criteria Provided Conflicting Classifications	CA452374740	rs_1464741803	2 SubmittersRCV000591317 RCV001479552
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)	SNV Germline	Chr1:160283036	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197428	rs_11550119	4 SubmittersRCV000591811 RCV001064828
NM_001351132.2(PEX5):c.1872C>T (p.Asp624=)	SNV Germline	Chr12:7210175	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426609	rs_148914171	2 SubmittersRCV000596451 RCV001078635
NM_001351132.2(PEX5):c.1638C>T (p.Arg546=)	SNV Germline	Chr12:7209760	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426532	rs_142408719	3 SubmittersRCV000591059 RCV001079091
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)	SNV Germline	Chr6:136869951	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 9B Phytanic acid storage disease Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 PEX7-related disorder	Criteria Provided Conflicting Classifications	CA4017697	rs_191969418	6 SubmittersRCV000591798 RCV000765867 RCV001081418 RCV001151970 RCV004732960
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)	SNV Germline	Chr2:61031651	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger) PEX13-related disorder	Criteria Provided Conflicting Classifications	CA1673278	rs_143972531	3 SubmittersRCV000597196 RCV001078538 RCV004553331
NM_002617.4(PEX10):c.78G>A (p.Arg26=)	SNV Germline	Chr1:2412425	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA16947537	rs_987035031	2 SubmittersRCV000591718 RCV001453819
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 PEX6-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3811225	rs_146416679	8 SubmittersRCV000597689 RCV001049098 RCV001333352 RCV001834899 RCV004553332 RCV004659122
NM_000287.4(PEX6):c.1014C>T (p.Asp338=)	SNV Germline	Chr6:42974907	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811493	rs_140806942	3 SubmittersRCV000593253 RCV001088282
NM_000287.4(PEX6):c.1335C>G (p.Leu445=)	SNV Germline	Chr6:42969700	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811366	rs_142958800	3 SubmittersRCV000596605 RCV001079633
NM_004565.3(PEX14):c.807C>T (p.Asn269=)	SNV Germline	Chr1:10629660	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder	Criteria Provided Conflicting Classifications	CA583968	rs_757658916	3 SubmittersRCV000594600 RCV001445878 RCV003900342
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp)	SNV Germline	Chr6:42966541	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA3811137	rs_748535121	3 SubmittersRCV000596492 RCV001051856 RCV001834900
NM_001351132.2(PEX5):c.1548C>T (p.Ser516=)	SNV Germline	Chr12:7209158	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426482	rs_143571888	2 SubmittersRCV000594556 RCV001079795
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)	SNV Germline	Chr1:10627288	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA583916	rs_142285791	4 SubmittersRCV000591064 RCV001083183 RCV003962715 RCV005453041
NM_002617.4(PEX10):c.601-55G>A	SNV Germline	Chr1:2406950	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA538107	rs_751098874	2 SubmittersRCV000593775 RCV001393144
NM_000286.3(PEX12):c.285G>A (p.Gly95=)	SNV Germline	Chr17:35577433	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Conflicting Classifications	CA499903549	rs_1555549869	2 SubmittersRCV000592447 RCV001425316
NM_001127649.3(PEX26):c.815-6C>T	SNV Germline	Chr22:18087966	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA658799484	rs_1556590594	2 SubmittersRCV000591178 RCV002532627
NM_004565.3(PEX14):c.*7G>T	SNV Germline	Chr1:10629994	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 13A (Zellweger) PEX14-related disorder	Criteria Provided Conflicting Classifications	CA584042	rs_367982022	3 SubmittersRCV000592607 RCV001099359 RCV003927938
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_000318.3(PEX2):c.738A>G (p.Leu246=)	SNV Germline	Chr8:76983441	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger)	Criteria Provided Conflicting Classifications	CA4788660	rs_376101275	2 SubmittersRCV000595305 RCV001078723
NM_002857.4(PEX19):c.159A>G (p.Arg53=)	SNV Germline	Chr1:160283551	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA421363213	rs_1218867675	2 SubmittersRCV000598163 RCV002532680
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)	SNV Germline	Chr7:92491427	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Peroxisome biogenesis disorder due to PEX1 defect	Criteria Provided Conflicting Classifications	CA4340856	rs_753699011	5 SubmittersRCV000597351 RCV002476342 RCV002532681 RCV002272300
NM_002618.4(PEX13):c.24C>A (p.Pro8=)	SNV Germline	Chr2:61017783	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA1673187	rs_774943691	2 SubmittersRCV000594390 RCV001406941
NM_001127649.3(PEX26):c.441C>T (p.Asp147=)	SNV Germline	Chr22:18083506	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B PEX26-related disorder	Criteria Provided Conflicting Classifications	CA10093328	rs_770611373	3 SubmittersRCV000591121 RCV001078846 RCV003900359
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_002618.4(PEX13):c.1014A>G (p.Lys338=)	SNV Germline	Chr2:61048572	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA1673414	rs_748712609	2 SubmittersRCV000595198 RCV002065185
NM_000287.4(PEX6):c.367C>T (p.Leu123=)	SNV Germline	Chr6:42978784	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811632	rs_758218388	2 SubmittersRCV000593767 RCV001489756
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu)	SNV Germline	Chr6:42965078	Conflicting classifications of pathogenicity	Inborn genetic diseases Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA364150541	rs_267608247	2 SubmittersRCV000624445 RCV001860423
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)	SNV Germline	Chr2:61031709	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 11A (Zellweger) Condition: not provided PEX13-related disorder	Criteria Provided Conflicting Classifications	CA1673291	rs_554152771	5 SubmittersRCV000625910 RCV001815420 RCV004547762
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	Criteria Provided Conflicting Classifications	CA138237883	rs_267608203	5 SubmittersRCV000656322 RCV000672728 RCV002534243 RCV003472050 RCV003488777
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	SNV Germline	Chr7:92489304	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Zellweger spectrum disorders not specified	Criteria Provided Conflicting Classifications	CA4340751	rs_553001596	3 SubmittersRCV000660614 RCV001451234 RCV005407851
NM_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)	Criteria Provided Conflicting Classifications	CA16942840	rs_61752094	3 SubmittersRCV000668280 RCV001221744 RCV003472095
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	Criteria Provided Multiple Submitters No Conflicts	CA337983985	rs_1553231739	5 SubmittersRCV000669958 RCV001784260 RCV003472121 RCV003653256
NM_002617.4(PEX10):c.912+1G>A	SNV Unknown	Chr1:2406483	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B	No Assertion Criteria Provided	CA337983986	rs_1553231739	1 SubmittersRCV000673106
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)	SNV Germline	Chr1:2406569	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Single Submitter	CA337984483	rs_1414973726	2 SubmittersRCV000674714 RCV001377362
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)	SNV Unknown	Chr1:2406606	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B	No Assertion Criteria Provided	CA337984744	rs_769251149	1 SubmittersRCV000669210
NM_002617.4(PEX10):c.776+2T>C	SNV Unknown	Chr1:2406718	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6A (Zellweger)	Criteria Provided Single Submitter	CA337984924	rs_1335685844	2 SubmittersRCV000670741 RCV003472130
NM_002617.4(PEX10):c.113-1G>A	SNV Germline	Chr1:2410452	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA16946818	rs_867305222	3 SubmittersRCV000668368 RCV002530744 RCV004568516
NM_002617.4(PEX10):c.913-2A>C	SNV Germline	Chr1:2405836	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder, complementation group 7 Peroxisome biogenesis disorder 6A (Zellweger)	Criteria Provided Conflicting Classifications	CA537956	rs_758250423	4 SubmittersRCV000671708 RCV001855565 RCV003472141
NM_002617.4(PEX10):c.776+2T>A	SNV Unknown	Chr1:2406718	Likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B	No Assertion Criteria Provided	CA337984925	rs_1335685844	1 SubmittersRCV000668740
NM_000287.4(PEX6):c.2806+1G>A	SNV Unknown	Chr6:42964789	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2	Criteria Provided Single Submitter	CA3810907	rs_751900826	2 SubmittersRCV000672043 RCV004568548
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 Peroxisome biogenesis disorder 4A (Zellweger) 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	9 SubmittersRCV000666171 RCV001242506 RCV001198918 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)	Criteria Provided Conflicting Classifications	CA138222768	rs_267608240	7 SubmittersRCV000672227 RCV000780591 RCV001311716 RCV003472146 RCV004788099
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	SNV Germline	Chr6:42966050	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B 6 conditions Peroxisome biogenesis disorder 4A (Zellweger) Condition: not provided Peroxisome biogenesis disorder Heimler syndrome 2	Criteria Provided Conflicting Classifications	CA138222771	rs_267608239	6 SubmittersRCV000669028 RCV001201401 RCV001007606 RCV001532548 RCV003530093 RCV003472109
NM_000287.4(PEX6):c.1234-1G>T	SNV Germline	Chr6:42969802	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder	Criteria Provided Single Submitter	CA364155964	rs_1554127533	2 SubmittersRCV000674014 RCV001861831
NM_000288.4(PEX7):c.189-2A>G	SNV Germline	Chr6:136826317	Likely pathogenic	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B	Criteria Provided Single Submitter	CA365855702	rs_1554328952	2 SubmittersRCV000671094 RCV004568540
NM_000287.4(PEX6):c.2472-2A>G	SNV Germline	Chr6:42965370	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder	Criteria Provided Single Submitter	CA138222171	rs_267608242	2 SubmittersRCV000667079 RCV002530706
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 Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	Criteria Provided Multiple Submitters No Conflicts	CA138223536	rs_267608229	6 SubmittersRCV000665084 RCV001280661 RCV002224971 RCV003472068 RCV005034234
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)	SNV Germline	Chr6:42978663	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Condition: not provided Peroxisome biogenesis disorder Zellweger spectrum disorders Inborn genetic diseases Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	Criteria Provided Conflicting Classifications	CA3811614	rs_778791031	7 SubmittersRCV000664899 RCV000731346 RCV001247917 RCV001835068 RCV002530640 RCV002485520
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)	SNV Unknown	Chr6:42979018	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	No Assertion Criteria Provided	CA364168892	rs_1356280167	1 SubmittersRCV000669517
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	Criteria Provided Conflicting Classifications	CA138238795	rs_61752139	3 SubmittersRCV000673775 RCV002531343 RCV003472161
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 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA3811017	rs_61753229	6 SubmittersRCV000670936 RCV000857244 RCV001379858 RCV003472131 RCV005034259
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_000287.4(PEX6):c.1238G>T (p.Gly413Val)	SNV Germline	Chr6:42969797	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA364155946	rs_1554127531	4 SubmittersRCV000672797 RCV001268931 RCV005034267 RCV004586868
NM_000287.4(PEX6):c.1046+1G>A	SNV Unknown	Chr6:42974874	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	No Assertion Criteria Provided	CA364159325	rs_1554127968	1 SubmittersRCV000669488
NM_000287.4(PEX6):c.2T>G (p.Met1Arg)	SNV Unknown	Chr6:42979149	Likely pathogenic	Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	No Assertion Criteria Provided	CA364170148	rs_1554128597	1 SubmittersRCV000670830
NM_000466.3(PEX1):c.3207+2C>A	SNV Unknown	Chr7:92492951	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA368165771	rs_1554368097	1 SubmittersRCV000674724
NM_000466.3(PEX1):c.472+1G>A	SNV Germline	Chr7:92518140	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA161974047	rs_762852144	3 SubmittersRCV000668226 RCV003338727 RCV005046878
NM_000466.3(PEX1):c.273+1G>A	SNV Germline	Chr7:92522101	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368204649	rs_1554376597	5 SubmittersRCV000674474 RCV001377626 RCV002499189 RCV003472170
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)	SNV Germline	Chr7:92528431	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA4341710	rs_762679408	5 SubmittersRCV000674254 RCV001201378 RCV003472166 RCV005034275
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	SNV Germline	Chr7:92493083	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 1B Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Conflicting Classifications	CA161954483	rs_954814470	5 SubmittersRCV000669293 RCV000729582 RCV001332474 RCV002531221 RCV003472113
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	SNV Germline	Chr7:92493122	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368167099	rs_1484321655	3 SubmittersRCV000666769 RCV001004316 RCV001377622 RCV003472081
NM_000466.3(PEX1):c.2719-2A>G	SNV Germline	Chr7:92496779	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368171328	rs_1554369234	3 SubmittersRCV000668286 RCV002530739 RCV003472097
NM_000466.3(PEX1):c.2071+2T>C	SNV Germline	Chr7:92504730	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368182701	rs_1478905473	2 SubmittersRCV000668401 RCV003594017
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)	SNV Germline	Chr7:92506251	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder Zellweger spectrum disorders PEX1-related disorder Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4341272	rs_61750409	5 SubmittersRCV000665705 RCV001193608 RCV001868206 RCV003420172 RCV003472072
NM_000466.3(PEX1):c.1587+2T>C	SNV Unknown	Chr7:92510942	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA368188660	rs_1554373578	1 SubmittersRCV000666658
NM_000466.3(PEX1):c.1239+1G>A	SNV Unknown	Chr7:92517275	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA368196891	rs_756876301	1 SubmittersRCV000673475
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)	SNV Germline	Chr7:92528435	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Zellweger spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA368207556	rs_1057517501	3 SubmittersRCV000667385 RCV001091386 RCV003767954
NM_000466.3(PEX1):c.3438+1G>T	SNV Unknown	Chr7:92491271	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA368163233	rs_1554367284	1 SubmittersRCV000673696
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	SNV Germline	Chr7:92494567	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Condition: not provided Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4340993	rs_61750425	4 SubmittersRCV000672142 RCV001242973 RCV001662740 RCV003472144
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)	SNV Germline	Chr7:92507020	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA161966090	rs_61750407	4 SubmittersRCV000664531 RCV003594015 RCV003472062
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)	SNV Unknown	Chr7:92511649	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA368191074	rs_1554373801	1 SubmittersRCV000666081
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)	SNV Germline	Chr7:92517946	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders	Criteria Provided Single Submitter	CA368201163	rs_1554375599	3 SubmittersRCV000665963 RCV001229220
NM_000466.3(PEX1):c.473-1G>C	SNV Unknown	Chr7:92518043	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA368201897	rs_1554375661	1 SubmittersRCV000673127
NM_000466.3(PEX1):c.473-1G>A	SNV Unknown	Chr7:92518043	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA368201892	rs_1554375661	1 SubmittersRCV000673458
NM_000466.3(PEX1):c.358-2A>C	SNV Germline	Chr7:92518257	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Zellweger spectrum disorders Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA368202694	rs_1057517500	5 SubmittersRCV000670124 RCV002477500 RCV001855537 RCV004568536
NM_000466.3(PEX1):c.357+1G>A	SNV Unknown	Chr7:92518994	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	No Assertion Criteria Provided	CA368202814	rs_866144313	1 SubmittersRCV000668706
NM_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	10 SubmittersRCV000664468 RCV000780588 RCV001053880 RCV001275871 RCV002281578 RCV003231574
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)	SNV Unknown	Chr8:76983875	Likely pathogenic	Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 5A (Zellweger)	No Assertion Criteria Provided	CA371557640	rs_200065382	1 SubmittersRCV000669502
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	Criteria Provided Conflicting Classifications	CA4788654	rs_749956542	5 SubmittersRCV000674153 RCV001855605 RCV003156108 RCV005431869
NM_000318.3(PEX2):c.-17-2A>G	SNV Germline	Chr8:76984197	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 5A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA583367336	rs_1289852067	3 SubmittersRCV000672992 RCV001251181
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)	SNV Unknown	Chr17:35575884	Likely pathogenic	Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger)	No Assertion Criteria Provided	CA290068101	rs_941358133	1 SubmittersRCV000667563
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)	SNV Unknown	Chr17:35577054	Likely pathogenic	Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Single Submitter	CA399137650	rs_1555549841	2 SubmittersRCV000668008 RCV003472093
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)	SNV Germline	Chr17:35577258	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger) PEX12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA399138085	rs_1555549855	3 SubmittersRCV000666724 RCV003534546 RCV004547837
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)	SNV Germline	Chr17:35577507	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA8504947	rs_767447750	4 SubmittersRCV000666102 RCV001861749
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)	SNV Germline	Chr17:35576073	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA8504840	rs_747099919	3 SubmittersRCV000666647 RCV001237704
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)	SNV Germline	Chr17:35577973	Pathogenic	Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Single Submitter	CA290070309	rs_888633730	2 SubmittersRCV000665795 RCV002532046
NM_000286.3(PEX12):c.680+1G>A	SNV Germline	Chr17:35577037	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA290069178	rs_904972651	4 SubmittersRCV000674616 RCV001861845
NM_000286.3(PEX12):c.126+2T>A	SNV Unknown	Chr17:35577894	Likely pathogenic	Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B	No Assertion Criteria Provided	CA399138814	rs_1555549902	1 SubmittersRCV000671104
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)	SNV Germline	Chr17:35577093	Pathogenic	Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA8504880	rs_61752106	5 SubmittersRCV000671389 RCV000781711 RCV000819199
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)	SNV Germline	Chr17:35577114	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA8504882	rs_61752105	4 SubmittersRCV000666766 RCV001390433
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)	SNV Germline	Chr17:35577496	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder type 3B Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA8504943	rs_765404768	4 SubmittersRCV000670011 RCV001855532
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_004813.4(PEX16):c.859C>T (p.Arg287Cys)	SNV Germline	Chr11:45913847	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 8B Peroxisome biogenesis disorder Condition: not provided Peroxisome biogenesis disorder 8A (Zellweger)	Criteria Provided Multiple Submitters No Conflicts	CA5959797	rs_769772100	6 SubmittersRCV000680059 RCV001236014 RCV003133504 RCV003152611
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)	SNV Germline	Chr2:61031791	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 11A (Zellweger) Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1673303	rs_369851185	2 SubmittersRCV000707004 RCV001784347
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)	SNV Germline	Chr2:61031834	Pathogenic	Peroxisome biogenesis disorder 11A (Zellweger) Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Multiple Submitters No Conflicts	CA1673305	rs_553968959	3 SubmittersRCV000697441 RCV001268567 RCV004782516
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) Peroxisome biogenesis disorder 4B Heimler syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA3811176	rs_781475201	3 SubmittersRCV000698404 RCV003472225 RCV005034311
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)	SNV Germline	Chr6:42968944	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B Heimler syndrome 2 Peroxisome biogenesis disorder 4B	Criteria Provided Multiple Submitters No Conflicts	CA364155368	rs_1561823098	5 SubmittersRCV000694665 RCV004720277 RCV004820094 RCV005034304 RCV004760722
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	SNV Germline	Chr7:92494568	Pathogenic/Likely pathogenic	Zellweger spectrum disorders Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B Heimler syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA161955790	rs_866184460	5 SubmittersRCV000704649 RCV001580539 RCV004796289 RCV003472246
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter)	SNV Germline	Chr2:61031912	Pathogenic	Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Single Submitter	CA346943974	rs_1559035738	1 SubmittersRCV000694806
NM_000287.4(PEX6):c.2667-2A>C	SNV Germline	Chr6:42964931	Pathogenic	Peroxisome biogenesis disorder	Criteria Provided Single Submitter	CA364150527	rs_267608249	1 SubmittersRCV000697638
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_001127649.3(PEX26):c.48G>T (p.Gly16=)	SNV Germline	Chr22:18078424	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10093205	rs_764244307	2 SubmittersRCV000728127 RCV002060968
NM_002617.4(PEX10):c.378C>T (p.Pro126=)	SNV Germline	Chr1:2408674	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA538190	rs_762783424	2 SubmittersRCV000728278 RCV001437340
NM_000288.4(PEX7):c.843A>G (p.Thr281=)	SNV Germline	Chr6:136898181	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4017781	rs_767903764	4 SubmittersRCV000728556 RCV001155828 RCV001155829 RCV004958063
NM_001351132.2(PEX5):c.129A>G (p.Gly43=)	SNV Germline	Chr12:7190506	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B PEX5-related disorder	Criteria Provided Conflicting Classifications	CA6426002	rs_932238098	3 SubmittersRCV000728580 RCV001456831 RCV003945776
NM_000466.3(PEX1):c.3517C>T (p.Gln1173Ter)	SNV Germline	Chr7:92489833	Likely pathogenic	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisome biogenesis disorder 1B	Criteria Provided Multiple Submitters No Conflicts	CA368161729	rs_1562842708	2 SubmittersRCV000728637 RCV005046985
NM_004813.4(PEX16):c.996C>T (p.Phe332=)	SNV Germline	Chr11:45910269	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5959721	rs_200546977	2 SubmittersRCV000728714 RCV002060971
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	Criteria Provided Conflicting Classifications	CA3811409	rs_752177240	4 SubmittersRCV000728855 RCV001786416 RCV003330924 RCV004547922
NM_001127649.3(PEX26):c.667+8A>G	SNV Germline	Chr22:18083740	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A (Zellweger)	Criteria Provided Conflicting Classifications	CA10093373	rs_200880379	4 SubmittersRCV000728930 RCV001085287 RCV001146682
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)	SNV Germline	Chr1:10474995	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder	Criteria Provided Conflicting Classifications	CA583658	rs_12068754	3 SubmittersRCV000728945 RCV001087548 RCV003938101
NM_001127649.3(PEX26):c.318C>G (p.Val106=)	SNV Germline	Chr22:18079961	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B PEX26-related disorder	Criteria Provided Conflicting Classifications	CA10093287	rs_142072315	3 SubmittersRCV000729073 RCV001078816 RCV003947916
NM_004565.3(PEX14):c.816G>A (p.Thr272=)	SNV Germline	Chr1:10629669	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583971	rs_572028093	2 SubmittersRCV000729205 RCV001426559
NM_004813.4(PEX16):c.541+8G>A	SNV Germline	Chr11:45914596	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA913190260	rs_1565081217	2 SubmittersRCV000729251 RCV002535110
NM_004813.4(PEX16):c.774C>T (p.Ser258=)	SNV Germline	Chr11:45913932	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA221587450	rs_1031968916	2 SubmittersRCV000729309 RCV002535114
NM_000287.4(PEX6):c.759T>C (p.Asp253=)	SNV Germline	Chr6:42978392	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811569	rs_374342179	2 SubmittersRCV000729556 RCV001405565
NM_004565.3(PEX14):c.1101C>T (p.Pro367=)	SNV Germline	Chr1:10629954	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder	Criteria Provided Conflicting Classifications	CA584032	rs_146053705	3 SubmittersRCV000729559 RCV001415800 RCV003892616
NM_001127649.3(PEX26):c.243G>T (p.Val81=)	SNV Germline	Chr22:18079886	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10093278	rs_772417180	2 SubmittersRCV000729569 RCV002535121
NM_000287.4(PEX6):c.219G>A (p.Gln73=)	SNV Germline	Chr6:42978932	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811642	rs_191944205	2 SubmittersRCV000729645 RCV001089329
NM_004565.3(PEX14):c.996T>C (p.Asp332=)	SNV Germline	Chr1:10629849	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA584015	rs_201978719	2 SubmittersRCV000729648 RCV002060978
NM_000288.4(PEX7):c.630T>C (p.Asn210=)	SNV Germline	Chr6:136866730	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 9B	Criteria Provided Conflicting Classifications	CA452227852	rs_1466368201	2 SubmittersRCV000729666 RCV001467161
NM_004813.4(PEX16):c.885C>T (p.Ser295=)	SNV Germline	Chr11:45913821	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder PEX16-related disorder	Criteria Provided Conflicting Classifications	CA5959787	rs_200415017	3 SubmittersRCV000729713 RCV001427814 RCV003918199
NM_002618.4(PEX13):c.408T>A (p.Ile136=)	SNV Germline	Chr2:61031734	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger) PEX13-related disorder	Criteria Provided Conflicting Classifications	CA1673294	rs_145776973	3 SubmittersRCV000729741 RCV001467803 RCV004547926
NM_001351132.2(PEX5):c.1848G>A (p.Gln616=)	SNV Germline	Chr12:7210151	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426602	rs_551068158	2 SubmittersRCV000729818 RCV001403463
NM_000286.3(PEX12):c.570A>G (p.Ser190=)	SNV Germline	Chr17:35577148	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 3A (Zellweger) PEX12-related disorder	Criteria Provided Conflicting Classifications	CA8504888	rs_758132842	3 SubmittersRCV000729923 RCV001079059 RCV004547927
NM_001127649.3(PEX26):c.33C>G (p.Pro11=)	SNV Germline	Chr22:18078409	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B PEX26-related disorder	Criteria Provided Conflicting Classifications	CA10093199	rs_199668827	3 SubmittersRCV000730019 RCV002060988 RCV003965517
NM_004565.3(PEX14):c.48T>C (p.Thr16=)	SNV Germline	Chr1:10495285	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K not specified	Criteria Provided Conflicting Classifications	CA583685	rs_779545665	3 SubmittersRCV000730109 RCV001426838 RCV003330925
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)	SNV Germline	Chr7:92491494	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 1A (Zellweger) Zellweger spectrum disorders not specified PEX1-related disorder	Criteria Provided Conflicting Classifications	CA4340868	rs_140963147	8 SubmittersRCV000730111 RCV001082990 RCV001275213 RCV001816798 RCV003953310
NM_004813.4(PEX16):c.273C>T (p.Cys91=)	SNV Germline	Chr11:45915789	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5960027	rs_146476007	2 SubmittersRCV000730189 RCV001450374
NM_002618.4(PEX13):c.-7G>A	SNV Germline	Chr2:61017753	Conflicting classifications of pathogenicity	not specified Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA48328079	rs_200847026	2 SubmittersRCV000730222 RCV001140448
NM_002617.4(PEX10):c.633G>C (p.Leu211=)	SNV Germline	Chr1:2406863	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA415775717	rs_1442790649	2 SubmittersRCV000730407 RCV002067107
NM_002618.4(PEX13):c.18A>G (p.Pro6=)	SNV Germline	Chr2:61017777	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA1673186	rs_769300208	2 SubmittersRCV000730443 RCV001482425
NM_004813.4(PEX16):c.87G>A (p.Val29=)	SNV Germline	Chr11:45917725	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA473861521	rs_1565082984	2 SubmittersRCV000730661 RCV005092143
NM_001351132.2(PEX5):c.543C>T (p.Thr181=)	SNV Germline	Chr12:7199105	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 2B	Criteria Provided Conflicting Classifications	CA6426163	rs_138205085	2 SubmittersRCV000730677 RCV001422472
NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser)	SNV Germline	Chr6:42966360	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811105	rs_577794661	2 SubmittersRCV000730903 RCV001868959
NM_004565.3(PEX14):c.543G>A (p.Gln181=)	SNV Germline	Chr1:10624395	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA415885995	rs_1557438039	2 SubmittersRCV000730933 RCV003758917
NM_002857.4(PEX19):c.70+7G>T	SNV Germline	Chr1:160285048	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 12A (Zellweger)	Criteria Provided Conflicting Classifications	CA1197504	rs_758203051	2 SubmittersRCV000730940 RCV002060997
NM_004565.3(PEX14):c.693A>G (p.Pro231=)	SNV Germline	Chr1:10629546	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583946	rs_145899844	2 SubmittersRCV000731010 RCV001088961
NM_004813.4(PEX16):c.684G>A (p.Pro228=)	SNV Germline	Chr11:45914326	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5959877	rs_777904359	2 SubmittersRCV000731036 RCV001495031
NM_002617.4(PEX10):c.363C>T (p.Pro121=)	SNV Germline	Chr1:2408689	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group 7	Criteria Provided Conflicting Classifications	CA538198	rs_543982780	2 SubmittersRCV000731162 RCV001453168
NM_000318.3(PEX2):c.174G>A (p.Ala58=)	SNV Germline	Chr8:76984005	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 5A (Zellweger)	Criteria Provided Conflicting Classifications	CA4788759	rs_150987080	3 SubmittersRCV000731227 RCV001492356
NM_004565.3(PEX14):c.330C>T (p.Gly110=)	SNV Germline	Chr1:10618363	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder	Criteria Provided Conflicting Classifications	CA583805	rs_772527603	3 SubmittersRCV000731291 RCV001855758 RCV003892633
NM_002618.4(PEX13):c.54G>A (p.Pro18=)	SNV Germline	Chr2:61017813	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA426181724	rs_1002699754	2 SubmittersRCV000731302 RCV001855655
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln)	SNV Germline	Chr1:10623050	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 13A (Zellweger) Peroxisome biogenesis disorder, complementation group K Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA583846	rs_147683525	4 SubmittersRCV000731303 RCV002477704 RCV001044283 RCV004958067
NM_001127649.3(PEX26):c.423G>A (p.Val141=)	SNV Germline	Chr22:18083488	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Criteria Provided Conflicting Classifications	CA10093324	rs_749533743	2 SubmittersRCV000731392 RCV001855659
NM_004813.4(PEX16):c.695-5G>A	SNV Germline	Chr11:45914208	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5959857	rs_775367961	2 SubmittersRCV000731467 RCV001481027
NM_004813.4(PEX16):c.612G>A (p.Glu204=)	SNV Germline	Chr11:45914398	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA5959900	rs_758739455	2 SubmittersRCV000731570 RCV002535219
NM_002618.4(PEX13):c.1095G>A (p.Thr365=)	SNV Germline	Chr2:61048653	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder 11A (Zellweger)	Criteria Provided Conflicting Classifications	CA1673433	rs_754460647	2 SubmittersRCV000731585 RCV002067123
NM_004565.3(PEX14):c.222C>T (p.Ala74=)	SNV Germline	Chr1:10599290	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA583757	rs_147043673	2 SubmittersRCV000731676 RCV001088522
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_004565.3(PEX14):c.1056C>T (p.Gly352=)	SNV Germline	Chr1:10629909	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K	Criteria Provided Conflicting Classifications	CA17855235	rs_372035480	2 SubmittersRCV000731767 RCV002535240
NM_004565.3(PEX14):c.303C>T (p.Pro101=)	SNV Germline	Chr1:10618336	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder, complementation group K PEX14-related disorder	Criteria Provided Conflicting Classifications	CA583795	rs_199552789	3 SubmittersRCV000731832 RCV001477343 RCV003975281
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_004813.4(PEX16):c.27C>T (p.Leu9=)	SNV Germline	Chr11:45917785	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA221592724	rs_913040375	2 SubmittersRCV000732083 RCV001494470
NM_000287.4(PEX6):c.807A>G (p.Gly269=)	SNV Germline	Chr6:42978344	Conflicting classifications of pathogenicity	Condition: not provided Peroxisome biogenesis disorder	Criteria Provided Conflicting Classifications	CA3811560	rs_774117516	2 SubmittersRCV000732098 RCV001855674

NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)

SNV
Germline

Chr22:18079935

Pathogenic

Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder
Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)
PEX26-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115367

rs_62641228

11 SubmittersRCV000002234 RCV000780589 RCV000402285 RCV000812717 RCV003472958 RCV003390634

NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)

SNV
Germline

Chr22:18079908

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Multiple Submitters
No Conflicts

CA115369

rs_28940308

3 SubmittersRCV000002236 RCV005222658

NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)

SNV
Germline

Chr22:18078378

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA115372

rs_74315506

5 SubmittersRCV000002239 RCV000779366 RCV002269256 RCV005024990

NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)

SNV
Germline

Chr22:18078510

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA115374

rs_61752132

5 SubmittersRCV000002240 RCV000351940 RCV001298874 RCV004700179

NM_001127649.3(PEX26):c.230+1G>T

SNV
Germline

Chr22:18078607

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115377

rs_267608190

4 SubmittersRCV000002242 RCV001851574 RCV002509142

NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)

SNV
Germline

Chr11:45914619

Pathogenic

Peroxisome biogenesis disorder 8A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA118288

rs_61752117

3 SubmittersRCV000006837 RCV000431832 RCV001851705

NM_004813.4(PEX16):c.952+2T>C

SNV
Germline

Chr11:45910896

Pathogenic

Peroxisome biogenesis disorder 8A (Zellweger)

No Assertion Criteria Provided

CA5959754

rs_267608185

1 SubmittersRCV000006839

NM_002617.4(PEX10):c.600+1G>A

SNV
Germline

Chr1:2408451

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118503

rs_267608183

8 SubmittersRCV000007172 RCV001273137 RCV002476939 RCV000519441 RCV000817369 RCV000983989 RCV001174563

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

SNV
Germline

Chr1:2406526

Pathogenic

Peroxisome biogenesis disorder 6B

No Assertion Criteria Provided

CA118504

rs_61752095

1 SubmittersRCV000007173

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)

Criteria Provided
Multiple Submitters
No Conflicts

CA118506

rs_61750434

5 SubmittersRCV000007174 RCV000670577 RCV001058978 RCV002222345 RCV003472994

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

SNV
Germline

Chr7:92501562

Pathogenic

Peroxisome biogenesis disorder
Leber congenital amaurosis
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisomal disorder
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Retinal dystrophy
Inborn genetic diseases
Zellweger spectrum disorders
not specified
PEX1-related disorder
Peroxisome biogenesis disorder due to PEX1 defect

Criteria Provided
Multiple Submitters
No Conflicts

CA220977

rs_61750420

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

NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)

SNV
Germline

Chr7:92504812

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254194

rs_121434455

7 SubmittersRCV000007949 RCV001248383 RCV003473054 RCV003480024 RCV000763597

NM_004565.3(PEX14):c.553C>T (p.Gln185Ter)

SNV
Germline

Chr1:10624405

Pathogenic

Peroxisome biogenesis disorder 13A (Zellweger)

No Assertion Criteria Provided

CA119007

rs_61752116

1 SubmittersRCV000008140

NM_002618.4(PEX13):c.702G>A (p.Trp234Ter)

SNV
Germline

Chr2:61032028

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

No Assertion Criteria Provided

CA119009

rs_104893661

1 SubmittersRCV000008142

NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)

SNV
Germline

Chr2:61048535

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 11B
Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA119011

rs_61752115

4 SubmittersRCV000008143 RCV002269257 RCV001851730 RCV004782013

NM_000286.3(PEX12):c.691A>T (p.Lys231Ter)

SNV
Germline

Chr17:35576171

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

No Assertion Criteria Provided

CA119063

rs_104894616

1 SubmittersRCV000008215

NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)

SNV
Germline

Chr17:35577180

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder type 3B
Peroxisomal biogenesis disorder 3b
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119065

rs_61752103

6 SubmittersRCV000008216 RCV000666018 RCV000032926 RCV001193474

NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)

SNV
Germline

Chr17:35575903

Pathogenic/Likely pathogenic

Peroxisomal biogenesis disorder 3b
Condition: not provided
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA119067

rs_28936697

8 SubmittersRCV000008217 RCV000415755 RCV000625796 RCV002281700 RCV005394138

NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)

SNV
Germline

Chr17:35575913

Conflicting classifications of pathogenicity

Peroxisomal biogenesis disorder 3b
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder type 3B

No Assertion Criteria Provided

CA119070

rs_61752112

2 SubmittersRCV000008221 RCV000675048

NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)

SNV
Germline

Chr6:136898213

Pathogenic

Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
PEX7-related disorder
Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA340698

rs_1805137

29 SubmittersRCV000008222 RCV000477898 RCV000339271 RCV000352824 RCV000380952 RCV005394139

NM_000288.4(PEX7):c.653C>T (p.Ala218Val)

SNV
Germline

Chr6:136869909

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Rhizomelic chondrodysplasia punctata
Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
PEX7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130482

rs_121909151

12 SubmittersRCV000008223 RCV000656252 RCV001831555 RCV000032925 RCV002504768 RCV004732537

NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)

SNV
Germline

Chr6:136869905

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Rhizomelic chondrodysplasia punctata
Inborn genetic diseases
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA340700

rs_121909152

14 SubmittersRCV000008224 RCV000454287 RCV001509294 RCV001831556 RCV002512897 RCV005031421

NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)

SNV
Germline

Chr6:136869950

Pathogenic

Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata

Criteria Provided
Multiple Submitters
No Conflicts

CA254243

rs_121909153

9 SubmittersRCV000008225 RCV000255604 RCV001064035 RCV001826452

NM_000288.4(PEX7):c.903+1G>C

SNV
Germline

Chr6:136898242

Pathogenic

Rhizomelic chondrodysplasia punctata type 1
PEX7-related disorder
Condition: not provided
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata

Criteria Provided
Multiple Submitters
No Conflicts

CA340702

rs_148591292

17 SubmittersRCV000008227 RCV000388756 RCV000579182 RCV005003344 RCV000309699 RCV001027954

NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)

SNV
Germline

Chr6:136845620

Pathogenic

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA119072

rs_121909154

6 SubmittersRCV000008228 RCV001826453 RCV000411170

NM_000288.4(PEX7):c.340-10A>G

SNV
Germline

Chr6:136845605

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Retinal dystrophy
Inborn genetic diseases
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA119074

rs_267608255

13 SubmittersRCV000008229 RCV000032116 RCV000393497 RCV004814859 RCV005384640 RCV005042014 RCV000731239 RCV005357095

NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)

SNV
Germline

Chr6:136822785

Pathogenic

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Inborn genetic diseases
Condition: not provided
PEX7-related disorder
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA119075

rs_61753238

10 SubmittersRCV000008230 RCV000147254 RCV000763558 RCV001826454 RCV002512898 RCV003137500 RCV000324320 RCV005031422

NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)

SNV
Germline

Chr6:136822705

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA119078

rs_61753233

4 SubmittersRCV000032117 RCV000008233 RCV005031423

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
Single Submitter

CA138230735

rs_267608213

3 SubmittersRCV000008592 RCV001239904 RCV005606632

NM_000287.4(PEX6):c.1688+1G>A

SNV
Germline

Chr6:42968289

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138225415

rs_112298166

3 SubmittersRCV000008594 RCV002512914 RCV003473057

NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)

SNV
Germline

Chr12:7209700

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
Rhizomelic chondrodysplasia punctata type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA254664

rs_61752138

6 SubmittersRCV000427819 RCV000009714 RCV000723322 RCV004813031

NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)

SNV
Germline

Chr12:7208554

Pathogenic

Peroxisome biogenesis disorder 2A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA120141

rs_61752137

4 SubmittersRCV000009715 RCV000483391 RCV001381490 RCV005007835

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

SNV
Germline

Chr8:76983824

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123377

rs_61752123

11 SubmittersRCV000014703 RCV000032924 RCV001275872 RCV002496363 RCV000589554 RCV004748521 RCV002223176

NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)

SNV
Germline

Chr8:76984016

Likely pathogenic

Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA123379

rs_61752119

2 SubmittersRCV000014704 RCV003323360

NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro)

SNV
Germline

Chr6:42968377

Pathogenic

Peroxisome biogenesis disorder 4B

No Assertion Criteria Provided

CA129014

rs_387906809

1 SubmittersRCV000023114

NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)

SNV
Germline

Chr11:45910273

Pathogenic

Peroxisome biogenesis disorder 8B

No Assertion Criteria Provided

CA129142

rs_397514472

1 SubmittersRCV000023295

NM_000288.4(PEX7):c.-45C>T

SNV
Unknown

Chr6:136822621

Likely pathogenic

Phytanic acid storage disease
Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA343127

rs_267608252

2 SubmittersRCV000032114 RCV004566793

NM_000288.4(PEX7):c.854A>G (p.His285Arg)

SNV
Germline

Chr6:136898192

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA343128

rs_62653611

4 SubmittersRCV000032118 RCV000656253 RCV003473247

NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter)

SNV
Germline

Chr1:145917809

Pathogenic

Peroxisome biogenesis disorder 14B

No Assertion Criteria Provided

CA130483

rs_397515419

1 SubmittersRCV000032935

NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)

SNV
Germline

Chr17:35577267

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 3A (Zellweger)
Condition: not provided
Inborn genetic diseases
PEX12-related disorder

Criteria Provided
Conflicting Classifications

CA145996

rs_138731505

8 SubmittersRCV000078561 RCV000970690 RCV001729380 RCV002515755 RCV004549499

NM_000318.3(PEX2):c.722G>T (p.Gly241Val)

SNV
Germline

Chr8:76983457

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220656

rs_150734057

5 SubmittersRCV000078631 RCV001085208 RCV003974959 RCV004019529

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

SNV
Germline

Chr8:76984088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220659

rs_149287302

11 SubmittersRCV000078632 RCV000967707 RCV001276118 RCV000660597 RCV003905040 RCV001546509

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

SNV
Germline

Chr7:92502076

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220975

rs_398123409

4 SubmittersRCV000078919 RCV000672527 RCV001854392 RCV003474678

NM_000466.3(PEX1):c.2442C>T (p.Phe814=)

SNV
Germline

Chr7:92501648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA146658

rs_145430946

8 SubmittersRCV000078921 RCV000356824 RCV001507118 RCV000859827

NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)

SNV
Germline

Chr7:92494621

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220978

rs_144825021

7 SubmittersRCV000078924 RCV000368382 RCV001277303 RCV001252811 RCV003935024 RCV004791262

NM_000466.3(PEX1):c.330C>G (p.Pro110=)

SNV
Germline

Chr7:92519022

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA146663

rs_71560821

8 SubmittersRCV000078927 RCV000358779 RCV001200182 RCV001507135

NM_001351132.2(PEX5):c.1567T>C (p.Leu523=)

SNV
Germline

Chr12:7209689

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA221512

rs_144165818

2 SubmittersRCV000079504 RCV001082292

NM_001351132.2(PEX5):c.81C>T (p.Asp27=)

SNV
Germline

Chr12:7190458

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA221518

rs_398123572

2 SubmittersRCV000079506 RCV002055121

NM_004565.3(PEX14):c.267C>G (p.Val89=)

SNV
Germline

Chr1:10599335

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA222775

rs_146359055

3 SubmittersRCV000081149 RCV001081866 RCV003952513

NM_004565.3(PEX14):c.360A>G (p.Ala120=)

SNV
Germline

Chr1:10618393

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
Peroxisome biogenesis disorder 13A (Zellweger)

Criteria Provided
Conflicting Classifications

CA222777

rs_148479162

4 SubmittersRCV000081150 RCV001079578 RCV001099251

NM_001127649.3(PEX26):c.669C>A (p.Gly223=)

SNV
Germline

Chr22:18085113

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA223510

rs_398124339

2 SubmittersRCV000081926 RCV002055214

NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)

SNV
Germline

Chr22:18085172

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA223512

rs_149153003

5 SubmittersRCV000081927 RCV000259059 RCV000359739 RCV001079497

NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)

SNV
Germline

Chr8:76983431

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA154235

rs_142645936

13 SubmittersRCV000262649 RCV000117903 RCV001082068 RCV000435678 RCV001835683 RCV001578657

NM_000318.3(PEX2):c.739T>C (p.Cys247Arg)

SNV
Germline

Chr8:76983440

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

No Assertion Criteria Provided

CA163284

rs_61752128

1 SubmittersRCV000128530

NM_000318.3(PEX2):c.669G>A (p.Trp223Ter)

SNV
Germline

Chr8:76983510

Pathogenic

Peroxisome biogenesis disorder 5B

No Assertion Criteria Provided

CA163286

rs_61752127

1 SubmittersRCV000128531

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
Peroxisome biogenesis disorder 6A (Zellweger)
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA175037

rs_724160000

7 SubmittersRCV000149810 RCV000675117 RCV001206752 RCV003474799 RCV003133148

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)

Criteria Provided
Conflicting Classifications

CA175039

rs_724160001

6 SubmittersRCV000149811 RCV000675089 RCV000728635 RCV001246837 RCV003474800

NM_002617.4(PEX10):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:2412501

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA175040

rs_724160002

4 SubmittersRCV000149812 RCV000665679 RCV001850029 RCV003155088

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

SNV
Germline

Chr1:2406766

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA175042

rs_61752092

6 SubmittersRCV000677268 RCV001208724 RCV000149813 RCV001831930 RCV001844050 RCV000666851

NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)

SNV
Germline

Chr8:76983910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234531

rs_146354196

3 SubmittersRCV000153683 RCV001081360 RCV003937430

NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)

SNV
Germline

Chr1:10629677

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
not specified

Criteria Provided
Conflicting Classifications

CA234527

rs_727504081

3 SubmittersRCV000153678 RCV001211203 RCV003330512

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_001351132.2(PEX5):c.396T>C (p.Thr132=)

SNV
Germline

Chr12:7191648

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA234535

rs_370827246

3 SubmittersRCV000153687 RCV001446164 RCV003952754

NM_001351132.2(PEX5):c.471C>T (p.Ala157=)

SNV
Germline

Chr12:7199033

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA234538

rs_144331955

2 SubmittersRCV000153688 RCV001085438

NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)

SNV
Germline

Chr12:7208520

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA234541

rs_138243167

3 SubmittersRCV000153689 RCV001085951 RCV003917506

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_000287.4(PEX6):c.306G>T (p.Ala102=)

SNV
Germline

Chr6:42978845

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA234546

rs_727504083

3 SubmittersRCV000153692 RCV001088358 RCV004551327

NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)

SNV
Germline

Chr6:136822739

Conflicting classifications of pathogenicity

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA274123

rs_61753236

3 SubmittersRCV000169280 RCV000654914

NM_000288.4(PEX7):c.188+1G>C

SNV
Germline

Chr6:136825272

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274207

rs_267608254

6 SubmittersRCV000169353 RCV001068245 RCV002485052 RCV003233479

NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)

SNV
Germline

Chr6:136845675

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273876

rs_764346452

3 SubmittersRCV000169000 RCV003474894 RCV004700520

NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)

SNV
Germline

Chr6:136866718

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA274350

rs_61753245

7 SubmittersRCV000169479 RCV000578930 RCV001380052

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

SNV
Germline

Chr7:92494485

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274236

rs_267608180

8 SubmittersRCV000169385 RCV001250202 RCV001215871 RCV002307427 RCV002291587 RCV003474911 RCV005031695

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

SNV
Germline

Chr7:92494486

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273894

rs_267608179

9 SubmittersRCV000599041 RCV002228604 RCV001332473 RCV003474896 RCV002516527 RCV004555855 RCV001194281 RCV001810430

NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)

SNV
Germline

Chr7:92501923

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274065

rs_61750418

8 SubmittersRCV000169227 RCV000657614 RCV001004323 RCV001220088 RCV002265653 RCV003474901 RCV005031692

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

SNV
Germline

Chr7:92528433

Pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA274384

rs_786204704

2 SubmittersRCV000169518 RCV003593925

NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)

SNV
Germline

Chr17:35577384

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)
PEX12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA235963

rs_776731688

7 SubmittersRCV000171254 RCV000675037 RCV000679868 RCV004552945

NM_001127649.3(PEX26):c.228C>T (p.Gly76=)

SNV
Germline

Chr22:18078604

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA236171

rs_786205556

5 SubmittersRCV000171354 RCV001808443 RCV001852066

NM_000288.4(PEX7):c.130+10C>A

SNV
Germline

Chr6:136822805

Conflicting classifications of pathogenicity

Condition: not provided
PEX7-related disorder
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA238582

rs_794726882

3 SubmittersRCV000173101 RCV004539594 RCV001461024

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

Criteria Provided
Conflicting Classifications

CA239465

rs_142899308

7 SubmittersRCV000173992 RCV000404054 RCV001083109 RCV001276732 RCV002517668 RCV005396525 RCV004552959

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_001351132.2(PEX5):c.1413G>C (p.Val471=)

SNV
Germline

Chr12:7209023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240282

rs_115760878

3 SubmittersRCV000174708 RCV001113433 RCV001078686

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_002618.4(PEX13):c.229T>A (p.Ser77Thr)

SNV
Germline

Chr2:61031555

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 11A (Zellweger)
Condition: not provided
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA241469

rs_150161574

5 SubmittersRCV000175727 RCV000879718 RCV003480075 RCV004552975

NM_003630.3(PEX3):c.165A>G (p.Gln55=)

SNV
Germline

Chr6:143459176

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 10A (Zellweger)

Criteria Provided
Conflicting Classifications

CA241511

rs_41285015

3 SubmittersRCV000175752 RCV000304969

NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)

SNV
Germline

Chr22:18078506

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA201672

rs_150895887

7 SubmittersRCV000175899 RCV000224312 RCV001137939 RCV001085384

NM_002618.4(PEX13):c.893T>C (p.Met298Thr)

SNV
Germline

Chr2:61045831

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 11A (Zellweger)
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA243275

rs_138545154

5 SubmittersRCV000177163 RCV001250088 RCV000981678 RCV004552990

NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)

SNV
Germline

Chr11:45916248

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 8A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder
PEX16-related disorder

Criteria Provided
Conflicting Classifications

CA243335

rs_149348130

5 SubmittersRCV000177215 RCV000358606 RCV000766831 RCV001079444 RCV003955053

NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)

SNV
Germline

Chr22:18083708

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA245382

rs_138232280

5 SubmittersRCV000178314 RCV000983944 RCV000302632 RCV003927659

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

8 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
Zellweger spectrum disorders
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder, complementation group 7
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA245493

rs_199934621

5 SubmittersRCV000178399 RCV001272161 RCV000315166 RCV001086346 RCV003907615

NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)

SNV
Germline

Chr7:92517850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245941

rs_773922257

3 SubmittersRCV000178773 RCV000764731 RCV002516781

NM_000466.3(PEX1):c.1011G>A (p.Lys337=)

SNV
Germline

Chr7:92517504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA203013

rs_142018583

4 SubmittersRCV000178774 RCV000906584 RCV001507201

NM_000288.4(PEX7):c.576C>T (p.Ile192=)

SNV
Germline

Chr6:136866676

Conflicting classifications of pathogenicity

Condition: not provided
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA246556

rs_776411851

6 SubmittersRCV000179285 RCV000301749 RCV000265395

NM_001127649.3(PEX26):c.815-10T>G

SNV
Germline

Chr22:18087962

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA246765

rs_794727805

2 SubmittersRCV000179497 RCV002054132

NM_004565.3(PEX14):c.575C>G (p.Ala192Gly)

SNV
Germline

Chr1:10624427

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
Peroxisome biogenesis disorder 13A (Zellweger)
Inborn genetic diseases
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA247197

rs_147706488

5 SubmittersRCV000179889 RCV000690356 RCV000764928 RCV002516805 RCV003917676

NM_004813.4(PEX16):c.543G>A (p.Thr181=)

SNV
Germline

Chr11:45914467

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA247210

rs_144063598

2 SubmittersRCV000179897 RCV001088669

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

Criteria Provided
Conflicting Classifications

CA210643

rs_34324426

26 SubmittersRCV000180127 RCV000201298 RCV000424129 RCV000779504 RCV000675148 RCV000850505 RCV001081170 RCV001075628 RCV001265584 RCV003987426

NM_004813.4(PEX16):c.695-6C>T

SNV
Germline

Chr11:45914209

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8B
Inborn genetic diseases
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA247651

rs_372182266

5 SubmittersRCV000180266 RCV001105494 RCV000763741 RCV002516814 RCV001455520

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210642

rs_61753219

13 SubmittersRCV000201297 RCV000666553 RCV000622824 RCV000735222 RCV001276623 RCV001193476 RCV001808558 RCV002243878 RCV005031753 RCV004737319

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

Criteria Provided
Conflicting Classifications

CA210645

rs_769896492

5 SubmittersRCV000201306 RCV001328449 RCV001853224 RCV004737320 RCV005031754

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

SNV
Germline

Chr7:92503153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA279184

rs_863225084

6 SubmittersRCV000201290 RCV001075286 RCV001810437 RCV003417729 RCV004701263 RCV002517304

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

SNV
Germline

Chr7:92507055

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210119

rs_370483961

6 SubmittersRCV000201302 RCV001377625 RCV001075087 RCV002500626

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

SNV
Germline

Chr7:92517275

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210121

rs_756876301

9 SubmittersRCV000201308 RCV000633316 RCV001004518 RCV001376605 RCV001526999 RCV001795328 RCV003422106 RCV005031756

NM_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

Criteria Provided
Multiple Submitters
No Conflicts

CA10575897

rs_61753224

5 SubmittersRCV000240689 RCV001795343 RCV002500674

NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)

SNV
Germline

Chr6:42978497

Conflicting classifications of pathogenicity

Heimler syndrome 2
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
not specified

Criteria Provided
Conflicting Classifications

CA10575898

rs_886037779

3 SubmittersRCV000240712 RCV000675085 RCV004689680

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

SNV
Germline

Chr7:92494357

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4340947

rs_61750427

7 SubmittersRCV000240787 RCV001004317 RCV002229187 RCV002251446 RCV002515571 RCV005042454 RCV003226251

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

SNV
Germline

Chr1:2406719

Pathogenic/Likely pathogenic

Inborn genetic diseases
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358179

rs_869312935

2 SubmittersRCV000210672 RCV002515587

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_004565.3(PEX14):c.36+8G>A

SNV
Germline

Chr1:10475010

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583666

rs_200154696

4 SubmittersRCV000248358 RCV000298360 RCV000887578

NM_002617.4(PEX10):c.194-5C>T

SNV
Germline

Chr1:2408863

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA538249

rs_375032738

4 SubmittersRCV000250225 RCV000725181 RCV000377774 RCV001504205

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

SNV
Germline

Chr7:92499808

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341072

rs_61750422

11 SubmittersRCV000254886 RCV001004321 RCV001063888 RCV001376587 RCV001260325 RCV002252071 RCV003475860 RCV001814132

NM_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_000287.4(PEX6):c.2148G>A (p.Glu716=)

SNV
Germline

Chr6:42966394

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA10603898

rs_766104579

2 SubmittersRCV000339687 RCV002059081

NM_001127649.3(PEX26):c.558C>T (p.Ala186=)

SNV
Germline

Chr22:18083623

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10093353

rs_372621690

2 SubmittersRCV000339692 RCV002059084

NM_002857.4(PEX19):c.181-5C>T

SNV
Germline

Chr1:160283114

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 12A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1197441

rs_199818690

4 SubmittersRCV001089126 RCV000403747

NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)

SNV
Germline

Chr12:7208077

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426380

rs_145690714

3 SubmittersRCV000307470 RCV001087319 RCV003955435

NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)

SNV
Germline

Chr6:42969947

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder
Condition: not provided
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA3811422

rs_150046979

6 SubmittersRCV000380106 RCV000946950 RCV001576141 RCV004547662

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 6A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10604149

rs_62641225

5 SubmittersRCV000289565 RCV001381855 RCV001833319 RCV003475892 RCV003155147

NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)

SNV
Germline

Chr8:76983970

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4788753

rs_35689779

10 SubmittersRCV000382602 RCV000514881 RCV001086854 RCV001578804

NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)

SNV
Germline

Chr7:92489847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340805

rs_182452430

7 SubmittersRCV000283658 RCV000764728 RCV001275210

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

SNV
Germline

Chr7:92494571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340995

rs_374167385

6 SubmittersRCV000304199 RCV000311034 RCV001240601 RCV003930068

NM_002617.4(PEX10):c.896C>T (p.Ala299Val)

SNV
Germline

Chr1:2406500

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA537986

rs_78620392

6 SubmittersRCV000403122 RCV001086392 RCV001272149 RCV000398333 RCV003930089

NM_002857.4(PEX19):c.261C>T (p.Phe87=)

SNV
Germline

Chr1:160283029

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 12A (Zellweger)
PEX19-related disorder

Criteria Provided
Conflicting Classifications

CA1197426

rs_146644725

4 SubmittersRCV000288367 RCV000650590 RCV003930092

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

SNV
Germline

Chr7:92493054

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340902

rs_754130942

6 SubmittersRCV000350916 RCV001277300 RCV003165737 RCV002480020

NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)

SNV
Germline

Chr7:92517878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341565

rs_141798874

10 SubmittersRCV000306324 RCV000889675 RCV001355075 RCV001420972 RCV004955376 RCV003977775

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

SNV
Germline

Chr7:92518145

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341604

rs_149729088

6 SubmittersRCV000271066 RCV001507194 RCV003940002 RCV000543039 RCV003437049

NM_004565.3(PEX14):c.474C>T (p.Ser158=)

SNV
Germline

Chr1:10623108

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583855

rs_145867351

2 SubmittersRCV000385651 RCV001415300

NM_004565.3(PEX14):c.451G>A (p.Gly151Ser)

SNV
Germline

Chr1:10623085

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA583852

rs_145888212

3 SubmittersRCV000263253 RCV001859620 RCV003298340

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

SNV
Germline

Chr6:42978298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811549

rs_61753220

8 SubmittersRCV000387310 RCV000709968 RCV000344101 RCV001276622 RCV002225576 RCV004547701

NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)

SNV
Germline

Chr22:18079968

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10093288

rs_45567240

6 SubmittersRCV000309036 RCV000960589 RCV001140188 RCV001547434

NM_000286.3(PEX12):c.452G>A (p.Arg151His)

SNV
Germline

Chr17:35577266

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 3A (Zellweger)
Inborn genetic diseases
PEX12-related disorder

Criteria Provided
Conflicting Classifications

CA8504906

rs_150186509

4 SubmittersRCV000275125 RCV001080036 RCV002521937 RCV004547702

NM_004565.3(PEX14):c.795A>G (p.Ser265=)

SNV
Germline

Chr1:10629648

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K
Condition: not provided

Criteria Provided
Conflicting Classifications

CA583967

rs_41274484

4 SubmittersRCV000318532 RCV000278785 RCV000960509 RCV003422198

NM_002857.4(PEX19):c.195T>C (p.Ala65=)

SNV
Germline

Chr1:160283095

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197436

rs_777582215

2 SubmittersRCV000294763 RCV001418385

NM_000287.4(PEX6):c.2619T>C (p.Asn873=)

SNV
Germline

Chr6:42965122

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA10605438

rs_886043369

2 SubmittersRCV000327168 RCV002519229

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

SNV
Germline

Chr7:92511710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341414

rs_371890000

6 SubmittersRCV000268203 RCV001080221 RCV001277309 RCV001336887 RCV004816504

NM_004565.3(PEX14):c.825G>A (p.Ser275=)

SNV
Germline

Chr1:10629678

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
not specified
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583974

rs_143412169

3 SubmittersRCV000317627 RCV000346590 RCV000887202

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

SNV
Germline

Chr1:2405832

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA537953

rs_374891812

4 SubmittersRCV000393024 RCV001082724 RCV001101219 RCV001277100

NM_004813.4(PEX16):c.1002T>C (p.Ser334=)

SNV
Germline

Chr11:45910263

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959717

rs_144897515

4 SubmittersRCV000313548 RCV000383174 RCV001087855

NM_001351132.2(PEX5):c.135G>C (p.Pro45=)

SNV
Germline

Chr12:7190512

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426008

rs_761885230

3 SubmittersRCV000304472 RCV002055069

NM_001351132.2(PEX5):c.258C>T (p.Asp86=)

SNV
Germline

Chr12:7191300

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426074

rs_144351488

3 SubmittersRCV000365150 RCV001471245 RCV003920118

NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)

SNV
Germline

Chr12:7209829

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426550

rs_151312595

4 SubmittersRCV000290125 RCV001114831 RCV001087261 RCV003930128

NM_001351132.2(PEX5):c.663G>A (p.Gln221=)

SNV
Germline

Chr12:7202261

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA10605665

rs_886043565

2 SubmittersRCV000397129 RCV001498915

NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)

SNV
Germline

Chr2:61045818

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B

Criteria Provided
Conflicting Classifications

CA1673368

rs_373118250

8 SubmittersRCV000493263 RCV001308586 RCV002469099 RCV002285016 RCV005025427

NM_001127649.3(PEX26):c.911G>A (p.Arg304His)

SNV
Germline

Chr22:18088068

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA10093453

rs_17851387

5 SubmittersRCV000374196 RCV000650266 RCV001146685 RCV003940029

NM_000286.3(PEX12):c.722G>T (p.Gly241Val)

SNV
Germline

Chr17:35576140

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 3A (Zellweger)
PEX12-related disorder

Criteria Provided
Conflicting Classifications

CA8504854

rs_139417458

5 SubmittersRCV000287024 RCV001083308 RCV004549596

NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)

SNV
Germline

Chr22:18083474

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder
Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Conflicting Classifications

CA10093320

rs_142648687

7 SubmittersRCV000296353 RCV001731563 RCV000883540 RCV003920124 RCV001140189

NM_004813.4(PEX16):c.887+9C>A

SNV
Germline

Chr11:45913810

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
PEX16-related disorder

Criteria Provided
Conflicting Classifications

CA5959786

rs_370590743

3 SubmittersRCV000388189 RCV001436337 RCV003949903

NM_001127649.3(PEX26):c.198C>T (p.Ala66=)

SNV
Germline

Chr22:18078574

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 7A (Zellweger)
not specified
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10093242

rs_374290931

3 SubmittersRCV000293503 RCV000326011 RCV000931054

NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)

SNV
Germline

Chr1:160285109

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197520

rs_145845197

6 SubmittersRCV000380642 RCV000884183 RCV001083281

NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)

SNV
Germline

Chr7:92493129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340911

rs_141650598

8 SubmittersRCV000298949 RCV000345924 RCV000766589 RCV001277301 RCV003977800

NM_004565.3(PEX14):c.299-8G>A

SNV
Germline

Chr1:10618324

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA583790

rs_112851814

3 SubmittersRCV000351423 RCV001085340 RCV003957497

NM_000287.4(PEX6):c.612A>G (p.Ser204=)

SNV
Germline

Chr6:42978539

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA10606065

rs_886043877

2 SubmittersRCV000310640 RCV002521990

NM_002857.4(PEX19):c.255G>A (p.Ala85=)

SNV
Germline

Chr1:160283035

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)
PEX19-related disorder

Criteria Provided
Conflicting Classifications

CA1197427

rs_150928521

3 SubmittersRCV000361993 RCV001079090 RCV003940051

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_001127649.3(PEX26):c.200A>G (p.Asn67Ser)

SNV
Germline

Chr22:18078576

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10093243

rs_201884779

7 SubmittersRCV000338698 RCV000765604 RCV003930152 RCV000726167

NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn)

SNV
Germline

Chr6:42969898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10606197

rs_886043987

3 SubmittersRCV000294422 RCV003229590

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_001127649.3(PEX26):c.497G>A (p.Arg166Gln)

SNV
Germline

Chr22:18083562

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA10093338

rs_34194489

4 SubmittersRCV000385335 RCV001514036 RCV003977805

NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)

SNV
Germline

Chr2:61031468

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA1673247

rs_60203778

3 SubmittersRCV000318147 RCV001057894 RCV004549611

NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)

SNV
Germline

Chr12:7201803

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426202

rs_149102738

6 SubmittersRCV000262302 RCV000676016 RCV001082425 RCV000386382 RCV003910030

NM_003630.3(PEX3):c.578+8A>G

SNV
Germline

Chr6:143471619

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 10A (Zellweger)

Criteria Provided
Conflicting Classifications

CA4029624

rs_200807211

4 SubmittersRCV000351375 RCV001156184

NM_002617.4(PEX10):c.333C>T (p.Leu111=)

SNV
Germline

Chr1:2408719

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA538207

rs_781710848

3 SubmittersRCV000356298 RCV001443120 RCV003977809

NM_004813.4(PEX16):c.999C>T (p.Tyr333=)

SNV
Germline

Chr11:45910266

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
PEX16-related disorder

Criteria Provided
Conflicting Classifications

CA5959719

rs_146657010

3 SubmittersRCV000270091 RCV001087447 RCV003930178

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_001127649.3(PEX26):c.786C>G (p.Leu262=)

SNV
Germline

Chr22:18085230

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10093410

rs_759864013

2 SubmittersRCV000348701 RCV001435982

NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)

SNV
Germline

Chr7:92493116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340908

rs_185181696

7 SubmittersRCV000332762 RCV001240865 RCV002480047 RCV004752832 RCV004021294

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

SNV
Germline

Chr6:42964896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3810929

rs_533766104

5 SubmittersRCV000345818 RCV001087849 RCV001833397 RCV000407237 RCV004549619

NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)

SNV
Germline

Chr6:42969916

Pathogenic/Likely pathogenic

Condition: not provided
Heimler syndrome 2
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10606756

rs_886044436

3 SubmittersRCV000341180 RCV003475922 RCV002518133

NM_001127649.3(PEX26):c.540A>G (p.Leu180=)

SNV
Germline

Chr22:18083605

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10606937

rs_374381444

2 SubmittersRCV000292209 RCV001414499

NM_000288.4(PEX7):c.330C>T (p.His110=)

SNV
Germline

Chr6:136826460

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
PEX7-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4017551

rs_199648976

5 SubmittersRCV000366386 RCV001088047 RCV001274736 RCV004543144 RCV005452975

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

SNV
Germline

Chr8:76983384

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4788653

rs_764785488

3 SubmittersRCV001078844 RCV000405154 RCV001275869

NM_001351132.2(PEX5):c.693C>T (p.Ser231=)

SNV
Germline

Chr12:7202291

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426241

rs_140332077

2 SubmittersRCV000361889 RCV002059308

NM_002857.4(PEX19):c.21C>G (p.Gly7=)

SNV
Germline

Chr1:160285104

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197517

rs_140039683

3 SubmittersRCV000322457 RCV001084633

NM_002857.4(PEX19):c.162G>T (p.Ser54=)

SNV
Germline

Chr1:160283548

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197462

rs_540593146

2 SubmittersRCV000346914 RCV002059310

NM_004565.3(PEX14):c.567C>T (p.His189=)

SNV
Germline

Chr1:10624419

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583889

rs_147210317

2 SubmittersRCV000390426 RCV001089430

NM_000288.4(PEX7):c.339+10A>G

SNV
Germline

Chr6:136826479

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Conflicting Classifications

CA4017556

rs_374668045

6 SubmittersRCV000367539 RCV000726667 RCV001521874 RCV001274737

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_003630.3(PEX3):c.473C>G (p.Pro158Arg)

SNV
Germline

Chr6:143471399

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 10A (Zellweger)
PEX3-related disorder

Criteria Provided
Conflicting Classifications

CA4029590

rs_199781957

4 SubmittersRCV000274339 RCV000317753 RCV004730925

NM_004565.3(PEX14):c.993T>G (p.Asp331Glu)

SNV
Germline

Chr1:10629846

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA584014

rs_79954820

2 SubmittersRCV000295252 RCV001418898

NM_004565.3(PEX14):c.297C>T (p.Tyr99=)

SNV
Germline

Chr1:10599365

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K
Condition: not provided

Criteria Provided
Conflicting Classifications

CA583768

rs_371473184

3 SubmittersRCV000314462 RCV001201797 RCV001726092

NM_004565.3(PEX14):c.381C>T (p.Tyr127=)

SNV
Germline

Chr1:10618414

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583812

rs_372630614

3 SubmittersRCV000270298 RCV000596100 RCV001078514

NM_004565.3(PEX14):c.855C>G (p.Gly285=)

SNV
Germline

Chr1:10629708

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583982

rs_201107513

2 SubmittersRCV000374546 RCV001465781

NM_002857.4(PEX19):c.630A>C (p.Leu210=)

SNV
Germline

Chr1:160280211

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197287

rs_202174805

2 SubmittersRCV000369356 RCV002059339

NM_002857.4(PEX19):c.-4C>T

SNV
Germline

Chr1:160285128

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 12A (Zellweger)
Condition: not provided
PEX19-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1197524

rs_201541204

5 SubmittersRCV000283780 RCV000592505 RCV004739665 RCV005418063

NM_002857.4(PEX19):c.459G>A (p.Leu153=)

SNV
Germline

Chr1:160282174

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 12A (Zellweger)
PEX19-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1197346

rs_78340311

5 SubmittersRCV000728128 RCV000910722 RCV003957533 RCV002059340

NM_002857.4(PEX19):c.402T>C (p.Ser134=)

SNV
Germline

Chr1:160282447

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197373

rs_139828188

4 SubmittersRCV000594553 RCV001085129

NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)

SNV
Germline

Chr1:160282135

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)
PEX19-related disorder

Criteria Provided
Conflicting Classifications

CA1197336

rs_142780305

4 SubmittersRCV000597624 RCV001084547 RCV003940089

NM_002857.4(PEX19):c.347-7C>T

SNV
Germline

Chr1:160282509

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 12A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1197386

rs_753523567

3 SubmittersRCV000317733 RCV000731169

NM_002857.4(PEX19):c.181-4G>T

SNV
Germline

Chr1:160283113

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA10608517

rs_747572423

2 SubmittersRCV000372399

NM_002617.4(PEX10):c.776+8C>T

SNV
Germline

Chr1:2406712

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder, complementation group 7
PEX10-related disorder

Criteria Provided
Conflicting Classifications

CA538035

rs_370594705

3 SubmittersRCV000400274 RCV000903499 RCV003930232

NM_002617.4(PEX10):c.711C>T (p.Tyr237=)

SNV
Germline

Chr1:2406785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA538063

rs_761005209

3 SubmittersRCV000354897 RCV000667713 RCV001499270

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
Zellweger spectrum disorders
PEX10-related disorder
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Conflicting Classifications

CA538213

rs_140340426

5 SubmittersRCV000269378 RCV000730829 RCV001272169 RCV003957548 RCV001083113

NM_002617.4(PEX10):c.601-75G>A

SNV
Germline

Chr1:2406970

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10610738

rs_369211467

2 SubmittersRCV000367525 RCV003535686

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

SNV
Germline

Chr1:2408497

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA538137

rs_75377471

4 SubmittersRCV000275159 RCV001087429 RCV000731758 RCV001272165

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

SNV
Germline

Chr1:2408634

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA538184

rs_76530653

9 SubmittersRCV000309150 RCV000676044 RCV001037362 RCV001272167 RCV002480074 RCV002520466 RCV003957547

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

SNV
Germline

Chr1:2408772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA538226

rs_142626035

3 SubmittersRCV000378821 RCV000922425 RCV001835774

NM_002618.4(PEX13):c.355G>A (p.Val119Ile)

SNV
Germline

Chr2:61031681

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)
not specified
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA1673288

rs_147707348

6 SubmittersRCV000882202 RCV001081489 RCV000594107 RCV004549765

NM_002618.4(PEX13):c.417A>G (p.Ala139=)

SNV
Germline

Chr2:61031743

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA10614205

rs_886056197

2 SubmittersRCV000344942

NM_002618.4(PEX13):c.856G>A (p.Val286Ile)

SNV
Germline

Chr2:61045794

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA1673366

rs_201699810

4 SubmittersRCV000592320 RCV001083100 RCV004549766

NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)

SNV
Germline

Chr2:61031664

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 11A (Zellweger)
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA1673282

rs_202077756

3 SubmittersRCV000389018 RCV004549764

NM_002618.4(PEX13):c.1158G>A (p.Lys386=)

SNV
Germline

Chr2:61048716

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1673440

rs_371789976

2 SubmittersRCV000396571

NM_002618.4(PEX13):c.*2356T>C

SNV
Germline

Chr2:61051126

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 11A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615906

rs_139999174

2 SubmittersRCV000261484 RCV003437072

NM_003630.3(PEX3):c.51C>T (p.Ile17=)

SNV
Germline

Chr6:143451093

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 10A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4029430

rs_367803197

2 SubmittersRCV000358110 RCV002058558

NM_003630.3(PEX3):c.*220G>A

SNV
Germline

Chr6:143489446

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 10A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10621541

rs_117247312

2 SubmittersRCV000386612 RCV003430920

NM_000287.4(PEX6):c.2877A>G (p.Gln959=)

SNV
Germline

Chr6:42964401

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3810877

rs_562040179

2 SubmittersRCV000350596 RCV001861278

NM_000287.4(PEX6):c.1234-10C>T

SNV
Germline

Chr6:42969811

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811387

rs_370661410

2 SubmittersRCV000318534 RCV001442722

NM_000288.4(PEX7):c.94C>T (p.Leu32=)

SNV
Germline

Chr6:136822759

Conflicting classifications of pathogenicity

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Rhizomelic chondrodysplasia punctata
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10623035

rs_886061118

5 SubmittersRCV000377520 RCV001086124 RCV000593941 RCV001833471 RCV005384703

NM_000288.4(PEX7):c.130+11G>T

SNV
Germline

Chr6:136822806

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Conflicting Classifications

CA10623037

rs_886061119

2 SubmittersRCV000279742 RCV000378803

NM_000288.4(PEX7):c.130+13C>A

SNV
Germline

Chr6:136822808

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Conflicting Classifications

CA10623038

rs_886061120

2 SubmittersRCV000338400 RCV000374317

NM_000288.4(PEX7):c.418-4G>T

SNV
Germline

Chr6:136846069

Conflicting classifications of pathogenicity

Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Peroxisome biogenesis disorder 9B
PEX7-related disorder

Criteria Provided
Conflicting Classifications

CA4017610

rs_199552223

6 SubmittersRCV000309986 RCV000598492 RCV001080653 RCV004544666

NM_000287.4(PEX6):c.1234-11A>G

SNV
Germline

Chr6:42969812

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811388

rs_201879957

2 SubmittersRCV000356970 RCV001452054

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_000288.4(PEX7):c.615C>T (p.Asp205=)

SNV
Germline

Chr6:136866715

Conflicting classifications of pathogenicity

Rhizomelic chondrodysplasia punctata type 1
not specified
Condition: not provided
Peroxisome biogenesis disorder 9B
Inborn genetic diseases
PEX7-related disorder

Criteria Provided
Conflicting Classifications

CA4017665

rs_147298444

11 SubmittersRCV000360999 RCV000593142 RCV001727703 RCV000887799 RCV002356486 RCV004530433

NM_003630.3(PEX3):c.249A>G (p.Gln83=)

SNV
Germline

Chr6:143462959

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 10A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4029510

rs_139760270

2 SubmittersRCV000260163 RCV000887892

NM_000288.4(PEX7):c.748-10T>C

SNV
Germline

Chr6:136872188

Conflicting classifications of pathogenicity

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA10626108

rs_886061122

2 SubmittersRCV000263734 RCV000318897

NM_000288.4(PEX7):c.804-5C>T

SNV
Germline

Chr6:136898137

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Conflicting Classifications

CA4017778

rs_369653173

2 SubmittersRCV000293074 RCV000387363

NM_000288.4(PEX7):c.*38G>A

SNV
Germline

Chr6:136913564

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Conflicting Classifications

CA4017823

rs_41288965

1 SubmittersRCV000340735 RCV000407255

NM_000288.4(PEX7):c.*272A>G

SNV
Germline

Chr6:136913798

Conflicting classifications of pathogenicity

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA10626113

rs_186705952

1 SubmittersRCV000297765 RCV000407245

NM_003630.3(PEX3):c.96T>C (p.Tyr32=)

SNV
Germline

Chr6:143459107

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 10A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4029455

rs_201718910

2 SubmittersRCV000266248 RCV002520408

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

SNV
Germline

Chr7:92491337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340845

rs_142994610

8 SubmittersRCV000285353 RCV000733368 RCV001507178 RCV001262592 RCV003902401

NM_000466.3(PEX1):c.2927-12T>A

SNV
Germline

Chr7:92494408

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340962

rs_375062546

2 SubmittersRCV000396793 RCV002058679

NM_000466.3(PEX1):c.129+10C>T

SNV
Germline

Chr7:92528297

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA10626588

rs_886062508

3 SubmittersRCV000306024 RCV002058680

NM_000287.4(PEX6):c.2907G>C (p.Arg969=)

SNV
Germline

Chr6:42964371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3810866

rs_145243129

3 SubmittersRCV000279268 RCV000966458 RCV001276729

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

SNV
Germline

Chr6:42964860

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3810919

rs_202049230

4 SubmittersRCV000349557 RCV001083938 RCV000728934 RCV001276730

NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)

SNV
Germline

Chr6:42967534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811234

rs_140769712

11 SubmittersRCV000306069 RCV000598355 RCV001081040 RCV001262593 RCV002519497 RCV004549811

NM_000287.4(PEX6):c.939T>C (p.Pro313=)

SNV
Germline

Chr6:42974982

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811506

rs_151234121

4 SubmittersRCV000388669 RCV001480949 RCV003430925 RCV004549813

NM_000287.4(PEX6):c.690G>A (p.Glu230=)

SNV
Germline

Chr6:42978461

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA3811585

rs_368341252

3 SubmittersRCV000348080 RCV002058611 RCV004549814

NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)

SNV
Germline

Chr7:92489723

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA10629628

rs_886062501

2 SubmittersRCV000374492 RCV003758756

NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)

SNV
Germline

Chr7:92511622

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341401

rs_139919229

5 SubmittersRCV000348562 RCV003932488 RCV000598077 RCV001507172

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

SNV
Germline

Chr7:92511683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341409

rs_565049190

5 SubmittersRCV000728937 RCV000405009 RCV001277057 RCV003970059

NM_004813.4(PEX16):c.694+11C>T

SNV
Germline

Chr11:45914305

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959875

rs_763840804

2 SubmittersRCV000281774 RCV002056202

NM_001351132.2(PEX5):c.498A>G (p.Gln166=)

SNV
Germline

Chr12:7199060

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426156

rs_756714515

3 SubmittersRCV000323599 RCV002520835 RCV003957610

NM_001351132.2(PEX5):c.552-7G>A

SNV
Germline

Chr12:7201744

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426194

rs_189631769

4 SubmittersRCV000329555 RCV000729198 RCV001080298 RCV003940187

NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)

SNV
Germline

Chr12:7209131

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6426476

rs_150761638

3 SubmittersRCV000301107 RCV000910717 RCV001200577

NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)

SNV
Germline

Chr12:7209775

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426536

rs_200215904

3 SubmittersRCV000326811 RCV001510511 RCV004748720

NM_004813.4(PEX16):c.699C>T (p.Leu233=)

SNV
Germline

Chr11:45914199

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959856

rs_781411790

2 SubmittersRCV000385457 RCV002056201

NM_004813.4(PEX16):c.360-7G>A

SNV
Germline

Chr11:45915575

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 8A (Zellweger)
PEX16-related disorder
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959989

rs_202161790

3 SubmittersRCV000343383 RCV003930287 RCV001396191

NM_004813.4(PEX16):c.348C>T (p.Val116=)

SNV
Germline

Chr11:45915714

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA10634959

rs_886048328

2 SubmittersRCV000390073 RCV002520721

NM_001351132.2(PEX5):c.754-4G>A

SNV
Germline

Chr12:7202608

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6426271

rs_111286659

4 SubmittersRCV000351623 RCV001082911 RCV000597250 RCV004955413

NM_001351132.2(PEX5):c.909T>C (p.Ala303=)

SNV
Germline

Chr12:7203494

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426311

rs_376649488

2 SubmittersRCV000278913 RCV002520836

NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)

SNV
Germline

Chr12:7209169

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 2A (Zellweger)
not specified
Peroxisome biogenesis disorder 2B
Microcephaly
PEX5-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6426487

rs_139364109

10 SubmittersRCV000729311 RCV000403373 RCV001775113 RCV002307484 RCV001049488 RCV001252798 RCV004748719 RCV002522252

NM_001351132.2(PEX5):c.1737T>C (p.Phe579=)

SNV
Germline

Chr12:7210040

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426578

rs_753159772

2 SubmittersRCV000272531 RCV003765814

NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)

SNV
Germline

Chr12:7210178

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426613

rs_371233272

3 SubmittersRCV000333533 RCV001431944 RCV003967903

NM_004813.4(PEX16):c.726G>A (p.Ser242=)

SNV
Germline

Chr11:45914172

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5959847

rs_200414298

3 SubmittersRCV000330989 RCV001411288 RCV003391073

NM_004813.4(PEX16):c.609C>T (p.His203=)

SNV
Germline

Chr11:45914401

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder
PEX16-related disorder

Criteria Provided
Conflicting Classifications

CA5959902

rs_537046144

3 SubmittersRCV000395794 RCV001484687 RCV004745331

NM_000286.3(PEX12):c.84T>C (p.Ser28=)

SNV
Germline

Chr17:35577938

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 3A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8504987

rs_200641558

3 SubmittersRCV001082684 RCV000729344

NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)

SNV
Germline

Chr12:7209709

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426525

rs_144401814

3 SubmittersRCV000304501 RCV000733444 RCV001455994

NM_001351132.2(PEX5):c.551+15C>T

SNV
Germline

Chr12:7199128

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA10643302

rs_886049825

2 SubmittersRCV000288618 RCV002056332

NM_001351132.2(PEX5):c.643-5C>T

SNV
Germline

Chr12:7202236

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA10643304

rs_886049826

3 SubmittersRCV000294324 RCV002056333 RCV003897712

NM_001351132.2(PEX5):c.967-15G>A

SNV
Germline

Chr12:7207644

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)

Criteria Provided
Conflicting Classifications

CA6426337

rs_201341037

2 SubmittersRCV001451152 RCV000404589

NM_001351132.2(PEX5):c.*81A>C

SNV
Germline

Chr12:7210304

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10643328

rs_183460108

3 SubmittersRCV000392599 RCV003128613

NM_001127649.3(PEX26):c.230+8C>T

SNV
Germline

Chr22:18078614

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10645084

rs_886057245

2 SubmittersRCV000342218 RCV002520040

NM_000286.3(PEX12):c.1002G>A (p.Arg334=)

SNV
Germline

Chr17:35575860

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Conflicting Classifications

CA8504806

rs_200283718

4 SubmittersRCV000732703 RCV001079135

NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)

SNV
Germline

Chr17:35577981

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 3A (Zellweger)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8504998

rs_193253559

3 SubmittersRCV000920088 RCV004021697

NM_001127649.3(PEX26):c.207C>T (p.Ala69=)

SNV
Germline

Chr22:18078583

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10093245

rs_375516973

3 SubmittersRCV000404709 RCV001080029 RCV000594003

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16040725

rs_369965266

3 SubmittersRCV000410037 RCV000411504 RCV001290646 RCV002523888

NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)

SNV
Unknown

Chr6:136822725

Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA16041009

rs_1057516882

2 SubmittersRCV000411102 RCV004567883

NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)

SNV
Germline

Chr6:136826407

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Connective tissue disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4017545

rs_763514968

6 SubmittersRCV000409536 RCV001387967 RCV001828373 RCV002502423 RCV002278634

NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)

SNV
Germline

Chr6:136826464

Pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA16041012

rs_62653604

3 SubmittersRCV000411360 RCV003475974

NM_000288.4(PEX7):c.633+1G>A

SNV
Germline

Chr6:136866734

Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA16041017

rs_1057516989

2 SubmittersRCV000411695 RCV001861385

NM_000288.4(PEX7):c.748-2A>G

SNV
Germline

Chr6:136872196

Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA16041019

rs_778862698

3 SubmittersRCV000409011 RCV002523862

NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)

SNV
Germline

Chr7:92489776

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041143

rs_1057517467

5 SubmittersRCV000409527 RCV000411053 RCV000598875 RCV001865276 RCV003475977 RCV004577330

NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)

SNV
Unknown

Chr7:92489803

Likely pathogenic

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

No Assertion Criteria Provided

CA16041144

rs_1057517480

1 SubmittersRCV000409825 RCV000411784

NM_000466.3(PEX1):c.3208-1G>A

SNV
Germline

Chr7:92491503

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041146

rs_1057517518

7 SubmittersRCV000409017 RCV000411432 RCV001376544 RCV000599082 RCV003409567 RCV003475988

NM_000466.3(PEX1):c.2927-2A>G

SNV
Germline

Chr7:92494398

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041147

rs_1057517531

3 SubmittersRCV000410270 RCV000412213 RCV001379134 RCV003475992

NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)

SNV
Germline

Chr7:92494538

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041148

rs_1057517481

5 SubmittersRCV000410455 RCV000411996 RCV001004319 RCV001201668 RCV003319350 RCV003475982

NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)

SNV
Germline

Chr7:92499736

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041152

rs_1057517485

5 SubmittersRCV000409416 RCV000411881 RCV001004320 RCV001213658 RCV003475984 RCV005033923

NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)

SNV
Unknown

Chr7:92499805

Likely pathogenic

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

No Assertion Criteria Provided

CA16041153

rs_1057517470

1 SubmittersRCV000409499 RCV000411020

NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)

SNV
Germline

Chr7:92503130

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041155

rs_1057517468

3 SubmittersRCV000410160 RCV000412134 RCV002523885 RCV003475978

NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter)

SNV
Unknown

Chr7:92504882

Likely pathogenic

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

No Assertion Criteria Provided

CA16041159

rs_1057517464

1 SubmittersRCV000410165 RCV000412147

NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)

SNV
Unknown

Chr7:92507032

Likely pathogenic

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

No Assertion Criteria Provided

CA16041161

rs_1057517489

1 SubmittersRCV000409232 RCV000411702

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

SNV
Germline

Chr7:92509328

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041162

rs_1057517490

3 SubmittersRCV000410364 RCV000411848 RCV003475985 RCV002523887

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

SNV
Germline

Chr7:92509328

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041163

rs_1057517490

3 SubmittersRCV000409269 RCV000411209 RCV002523889

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

SNV
Germline

Chr7:92510943

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041164

rs_1057517469

3 SubmittersRCV000409309 RCV000411742 RCV001212702 RCV003475979

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

SNV
Germline

Chr7:92511003

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341376

rs_754983126

3 SubmittersRCV000410009 RCV000412445 RCV002523884 RCV003475975

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

SNV
Germline

Chr7:92517968

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341576

rs_149806989

6 SubmittersRCV000409397 RCV000780585 RCV001376604 RCV000411910 RCV002488843 RCV003475991 RCV005425947

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

SNV
Germline

Chr7:92518256

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041173

rs_1057517479

4 SubmittersRCV000409170 RCV000410312 RCV001004523 RCV001861401 RCV004567892 RCV002502434

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

SNV
Unknown

Chr7:92518257

Likely pathogenic

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

No Assertion Criteria Provided

CA16041174

rs_1057517500

1 SubmittersRCV000409764 RCV000410357

NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)

SNV
Unknown

Chr7:92519004

Likely pathogenic

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

No Assertion Criteria Provided

CA16041175

rs_1057517487

1 SubmittersRCV000409324 RCV000411341

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

SNV
Unknown

Chr7:92522246

Likely pathogenic

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

No Assertion Criteria Provided

CA16041176

rs_1028247729

1 SubmittersRCV000411284 RCV000412347

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

SNV
Germline

Chr7:92528434

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041177

rs_766020928

3 SubmittersRCV000410653 RCV000411721 RCV002230732 RCV005044618

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

SNV
Germline

Chr7:92528434

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341711

rs_766020928

7 SubmittersRCV001174676 RCV001232745 RCV000410262 RCV000412294 RCV001250203 RCV005033925

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

SNV
Germline

Chr7:92528435

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041178

rs_1057517501

4 SubmittersRCV000409502 RCV000411873 RCV000598681 RCV001384497 RCV005033924

NM_000286.3(PEX12):c.126+1G>T

SNV
Germline

Chr17:35577895

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder type 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA8504979

rs_144259891

10 SubmittersRCV000412365 RCV000730395 RCV000589854 RCV002505997

NM_002618.4(PEX13):c.937T>G (p.Trp313Gly)

SNV
Germline

Chr2:61048495

Pathogenic

Peroxisome biogenesis disorder 11B

No Assertion Criteria Provided

CA16044181

rs_61752113

1 SubmittersRCV000416325

NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter)

SNV
Germline

Chr22:18079939

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)

No Assertion Criteria Provided

CA16044303

rs_62641229

1 SubmittersRCV000416954

NM_003630.3(PEX3):c.898C>T (p.Arg300Ter)

SNV
Germline

Chr6:143479155

Pathogenic

Peroxisome biogenesis disorder 10B

No Assertion Criteria Provided

CA4029700

rs_201179294

1 SubmittersRCV000444777

NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)

SNV
Germline

Chr6:143485201

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 10B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16609230

rs_1057523689

3 SubmittersRCV000433323 RCV001851064

NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)

SNV
Germline

Chr11:45914331

Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16619326

rs_1064794320

3 SubmittersRCV000480123 RCV002525833

NM_001351132.2(PEX5):c.552-1G>A

SNV
Germline

Chr12:7201750

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA16619587

rs_1064793563

2 SubmittersRCV000481246 RCV002526533

NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu)

SNV
Germline

Chr12:7210102

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B
not specified

Criteria Provided
Conflicting Classifications

CA6426593

rs_748956654

3 SubmittersRCV000480471 RCV001856846 RCV005407140

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_001351132.2(PEX5):c.1718+5G>A

SNV
Germline

Chr12:7209845

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA603488602

rs_1085307998

2 SubmittersRCV000489259 RCV002526044

NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)

SNV
Germline

Chr6:136869897

Conflicting classifications of pathogenicity

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
not specified

Criteria Provided
Conflicting Classifications

CA365763942

rs_1554333880

3 SubmittersRCV000502761 RCV001865618 RCV004767315

NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr17:35575853

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA8504804

rs_760739894

4 SubmittersRCV000520537 RCV000674819 RCV001378080

NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg)

SNV
Germline

Chr22:18079996

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
not specified
Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Conflicting Classifications

CA321285522

rs_61752135

4 SubmittersRCV000519883 RCV001071380 RCV004767321 RCV003476217

NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)

SNV
Germline

Chr1:145912346

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 14B

Criteria Provided
Multiple Submitters
No Conflicts

CA342120925

rs_781984979

2 SubmittersRCV000537988

NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)

SNV
Germline

Chr1:145916914

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 14B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1055560

rs_781939614

4 SubmittersRCV000525555 RCV000729272

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

SNV
Germline

Chr6:42965262

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138222058

rs_61753230

5 SubmittersRCV000802431 RCV002248804 RCV004696954

NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)

SNV
Germline

Chr7:92510952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341372

rs_144942544

15 SubmittersRCV000584993 RCV000591691 RCV000660395 RCV001391319 RCV001578749 RCV001083497 RCV003925755

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

SNV
Germline

Chr6:42969675

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364155563

rs_1554127491

2 SubmittersRCV000589755

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

SNV
Germline

Chr6:42969884

Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4340941

rs_61750428

6 SubmittersRCV000590014 RCV000818703 RCV000984292 RCV000984291 RCV002232225 RCV001783092 RCV005392144

NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)

SNV
Germline

Chr22:18078561

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Multiple Submitters
No Conflicts

CA410265173

rs_1556586479

2 SubmittersRCV000589459 RCV003767341

NM_000286.3(PEX12):c.681-2A>C

SNV
Germline

Chr17:35576183

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 3A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
PEX12-related disorder

Criteria Provided
Conflicting Classifications

CA8504857

rs_187526749

12 SubmittersRCV000668976 RCV000597979 RCV000781709 RCV005010567 RCV004553310

NM_004565.3(PEX14):c.897C>T (p.Gly299=)

SNV
Germline

Chr1:10629750

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583992

rs_747580093

2 SubmittersRCV000595957 RCV001245613

NM_002857.4(PEX19):c.30C>G (p.Val10=)

SNV
Germline

Chr1:160285095

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197513

rs_144440223

2 SubmittersRCV000596831 RCV001426166

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

SNV
Germline

Chr1:2408784

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA538231

rs_775772867

4 SubmittersRCV001087511 RCV001095873 RCV001829641 RCV000593622

NM_000287.4(PEX6):c.348C>T (p.Leu116=)

SNV
Germline

Chr6:42978803

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811634

rs_746578841

3 SubmittersRCV000591401 RCV001446792

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

SNV
Germline

Chr8:76983354

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4788647

rs_367649632

4 SubmittersRCV001279838 RCV001080311 RCV000593351 RCV003925778

NM_000466.3(PEX1):c.1725G>A (p.Leu575=)

SNV
Germline

Chr7:92507072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341315

rs_150667796

5 SubmittersRCV000593815 RCV001086000 RCV001277307 RCV003927907

NM_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_004565.3(PEX14):c.1116C>T (p.Asn372=)

SNV
Germline

Chr1:10629969

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA584036

rs_149856184

2 SubmittersRCV000593007 RCV001089183

NM_002857.4(PEX19):c.564G>A (p.Leu188=)

SNV
Germline

Chr1:160282069

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)
PEX19-related disorder

Criteria Provided
Conflicting Classifications

CA1197321

rs_149058086

3 SubmittersRCV000592976 RCV001080432 RCV003905524

NM_004565.3(PEX14):c.1107C>T (p.Gly369=)

SNV
Germline

Chr1:10629960

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA584033

rs_781098256

2 SubmittersRCV000597363 RCV001084658

NM_002618.4(PEX13):c.534G>T (p.Val178=)

SNV
Germline

Chr2:61031860

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA426411626

rs_1162525817

2 SubmittersRCV000595896 RCV003653219

NM_002618.4(PEX13):c.354T>C (p.Phe118=)

SNV
Germline

Chr2:61031680

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA1673287

rs_143378216

3 SubmittersRCV000595614 RCV001089344 RCV004553314

NM_002618.4(PEX13):c.307C>T (p.Leu103=)

SNV
Germline

Chr2:61031633

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1673273

rs_767987790

2 SubmittersRCV000597086 RCV003653220

NM_002857.4(PEX19):c.669C>T (p.Ser223=)

SNV
Germline

Chr1:160280172

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197281

rs_375907790

2 SubmittersRCV000598495 RCV001860174

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138238569

rs_1010184002

5 SubmittersRCV000597333 RCV000735223 RCV001384063 RCV003471954

NM_004813.4(PEX16):c.262G>A (p.Val88Met)

SNV
Germline

Chr11:45915800

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8B
PEX16-related disorder

Criteria Provided
Conflicting Classifications

CA5960028

rs_567165324

5 SubmittersRCV000597515 RCV001087648 RCV001250061 RCV003945398

NM_002617.4(PEX10):c.627G>A (p.Glu209=)

SNV
Germline

Chr1:2406869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA538084

rs_141430704

4 SubmittersRCV000598146 RCV000970658 RCV001097564 RCV003409861

NM_000287.4(PEX6):c.1455T>C (p.Ser485=)

SNV
Germline

Chr6:42968898

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811328

rs_749798782

2 SubmittersRCV000597049 RCV001401142

NM_004565.3(PEX14):c.299-8G>T

SNV
Germline

Chr1:10618324

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583789

rs_112851814

2 SubmittersRCV000596280 RCV001521124

NM_004565.3(PEX14):c.170-4C>A

SNV
Germline

Chr1:10599234

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA583747

rs_764907398

3 SubmittersRCV000592439 RCV002062040 RCV003962680

NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys)

SNV
Germline

Chr6:42967478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811221

rs_375288192

6 SubmittersRCV000597455 RCV001080745 RCV002532450 RCV005044885 RCV004553317

NM_002857.4(PEX19):c.87C>T (p.Phe29=)

SNV
Germline

Chr1:160283623

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197475

rs_141911166

2 SubmittersRCV000593387 RCV001087775

NM_004813.4(PEX16):c.180C>T (p.Leu60=)

SNV
Germline

Chr11:45916272

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5960071

rs_779326282

2 SubmittersRCV000596590 RCV001459174

NM_004565.3(PEX14):c.411C>T (p.Gly137=)

SNV
Germline

Chr1:10623045

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583843

rs_775297789

2 SubmittersRCV000594413 RCV003758871

NM_001351132.2(PEX5):c.1111-4C>G

SNV
Germline

Chr12:7208006

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426373

rs_376699778

3 SubmittersRCV000591338 RCV001078598 RCV003927919

NM_004565.3(PEX14):c.93G>A (p.Thr31=)

SNV
Germline

Chr1:10536221

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583712

rs_139797106

2 SubmittersRCV000597054 RCV001467244

NM_000287.4(PEX6):c.1047-4G>T

SNV
Germline

Chr6:42974090

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811462

rs_748779475

2 SubmittersRCV000596716 RCV001079046

NM_001127649.3(PEX26):c.668-5G>T

SNV
Germline

Chr22:18085107

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA10093391

rs_767742108

4 SubmittersRCV000596109 RCV005435046 RCV002065164 RCV004754488

NM_000287.4(PEX6):c.1362G>A (p.Gln454=)

SNV
Germline

Chr6:42969673

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA450365887

rs_1360001006

2 SubmittersRCV000595720 RCV002532487

NM_001127649.3(PEX26):c.99G>C (p.Pro33=)

SNV
Germline

Chr22:18078475

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA513184925

rs_1284941471

3 SubmittersRCV000595573 RCV002062059 RCV003962694

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.1531C>T (p.Leu511=)

SNV
Germline

Chr6:42968447

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811305

rs_147567606

2 SubmittersRCV000598437 RCV001397260

NM_002857.4(PEX19):c.162G>A (p.Ser54=)

SNV
Germline

Chr1:160283548

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)
PEX19-related disorder

Criteria Provided
Conflicting Classifications

CA1197463

rs_540593146

3 SubmittersRCV000596452 RCV001412677 RCV003962696

NM_000287.4(PEX6):c.2493C>T (p.Ala831=)

SNV
Germline

Chr6:42965347

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3811002

rs_775778545

3 SubmittersRCV000593283 RCV001492279 RCV005453036

NM_000287.4(PEX6):c.2667-10C>A

SNV
Germline

Chr6:42964939

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA658796765

rs_1554126803

2 SubmittersRCV000598219 RCV001854053

NM_001351132.2(PEX5):c.591G>A (p.Thr197=)

SNV
Germline

Chr12:7201790

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426199

rs_146024341

2 SubmittersRCV000597574 RCV001406498

NM_001127649.3(PEX26):c.882A>G (p.Ala294=)

SNV
Germline

Chr22:18088039

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10093441

rs_751507771

2 SubmittersRCV000598530 RCV001082778

NM_000288.4(PEX7):c.126C>T (p.Ile42=)

SNV
Germline

Chr6:136822791

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA452374740

rs_1464741803

2 SubmittersRCV000591317 RCV001479552

NM_002857.4(PEX19):c.254C>T (p.Ala85Val)

SNV
Germline

Chr1:160283036

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197428

rs_11550119

4 SubmittersRCV000591811 RCV001064828

NM_001351132.2(PEX5):c.1872C>T (p.Asp624=)

SNV
Germline

Chr12:7210175

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426609

rs_148914171

2 SubmittersRCV000596451 RCV001078635

NM_001351132.2(PEX5):c.1638C>T (p.Arg546=)

SNV
Germline

Chr12:7209760

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426532

rs_142408719

3 SubmittersRCV000591059 RCV001079091

NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)

SNV
Germline

Chr6:136869951

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
PEX7-related disorder

Criteria Provided
Conflicting Classifications

CA4017697

rs_191969418

6 SubmittersRCV000591798 RCV000765867 RCV001081418 RCV001151970 RCV004732960

NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)

SNV
Germline

Chr2:61031651

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA1673278

rs_143972531

3 SubmittersRCV000597196 RCV001078538 RCV004553331

NM_002617.4(PEX10):c.78G>A (p.Arg26=)

SNV
Germline

Chr1:2412425

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Conflicting Classifications

CA16947537

rs_987035031

2 SubmittersRCV000591718 RCV001453819

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
PEX6-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3811225

rs_146416679

8 SubmittersRCV000597689 RCV001049098 RCV001333352 RCV001834899 RCV004553332 RCV004659122

NM_000287.4(PEX6):c.1014C>T (p.Asp338=)

SNV
Germline

Chr6:42974907

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811493

rs_140806942

3 SubmittersRCV000593253 RCV001088282

NM_000287.4(PEX6):c.1335C>G (p.Leu445=)

SNV
Germline

Chr6:42969700

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811366

rs_142958800

3 SubmittersRCV000596605 RCV001079633

NM_004565.3(PEX14):c.807C>T (p.Asn269=)

SNV
Germline

Chr1:10629660

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA583968

rs_757658916

3 SubmittersRCV000594600 RCV001445878 RCV003900342

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

SNV
Germline

Chr6:42966541

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA3811137

rs_748535121

3 SubmittersRCV000596492 RCV001051856 RCV001834900

NM_001351132.2(PEX5):c.1548C>T (p.Ser516=)

SNV
Germline

Chr12:7209158

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426482

rs_143571888

2 SubmittersRCV000594556 RCV001079795

NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)

SNV
Germline

Chr1:10627288

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA583916

rs_142285791

4 SubmittersRCV000591064 RCV001083183 RCV003962715 RCV005453041

NM_002617.4(PEX10):c.601-55G>A

SNV
Germline

Chr1:2406950

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Conflicting Classifications

CA538107

rs_751098874

2 SubmittersRCV000593775 RCV001393144

NM_000286.3(PEX12):c.285G>A (p.Gly95=)

SNV
Germline

Chr17:35577433

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Conflicting Classifications

CA499903549

rs_1555549869

2 SubmittersRCV000592447 RCV001425316

NM_001127649.3(PEX26):c.815-6C>T

SNV
Germline

Chr22:18087966

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA658799484

rs_1556590594

2 SubmittersRCV000591178 RCV002532627

NM_004565.3(PEX14):c.*7G>T

SNV
Germline

Chr1:10629994

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 13A (Zellweger)
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA584042

rs_367982022

3 SubmittersRCV000592607 RCV001099359 RCV003927938

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_000318.3(PEX2):c.738A>G (p.Leu246=)

SNV
Germline

Chr8:76983441

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4788660

rs_376101275

2 SubmittersRCV000595305 RCV001078723

NM_002857.4(PEX19):c.159A>G (p.Arg53=)

SNV
Germline

Chr1:160283551

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA421363213

rs_1218867675

2 SubmittersRCV000598163 RCV002532680

NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)

SNV
Germline

Chr7:92491427

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Zellweger spectrum disorders
Peroxisome biogenesis disorder due to PEX1 defect

Criteria Provided
Conflicting Classifications

CA4340856

rs_753699011

5 SubmittersRCV000597351 RCV002476342 RCV002532681 RCV002272300

NM_002618.4(PEX13):c.24C>A (p.Pro8=)

SNV
Germline

Chr2:61017783

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1673187

rs_774943691

2 SubmittersRCV000594390 RCV001406941

NM_001127649.3(PEX26):c.441C>T (p.Asp147=)

SNV
Germline

Chr22:18083506

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA10093328

rs_770611373

3 SubmittersRCV000591121 RCV001078846 RCV003900359

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_002618.4(PEX13):c.1014A>G (p.Lys338=)

SNV
Germline

Chr2:61048572

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1673414

rs_748712609

2 SubmittersRCV000595198 RCV002065185

NM_000287.4(PEX6):c.367C>T (p.Leu123=)

SNV
Germline

Chr6:42978784

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811632

rs_758218388

2 SubmittersRCV000593767 RCV001489756

NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu)

SNV
Germline

Chr6:42965078

Conflicting classifications of pathogenicity

Inborn genetic diseases
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA364150541

rs_267608247

2 SubmittersRCV000624445 RCV001860423

NM_002618.4(PEX13):c.383G>T (p.Gly128Val)

SNV
Germline

Chr2:61031709

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 11A (Zellweger)
Condition: not provided
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA1673291

rs_554152771

5 SubmittersRCV000625910 RCV001815420 RCV004547762

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

Criteria Provided
Conflicting Classifications

CA138237883

rs_267608203

5 SubmittersRCV000656322 RCV000672728 RCV002534243 RCV003472050 RCV003488777

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

SNV
Germline

Chr7:92489304

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340751

rs_553001596

3 SubmittersRCV000660614 RCV001451234 RCV005407851

NM_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)

Criteria Provided
Conflicting Classifications

CA16942840

rs_61752094

3 SubmittersRCV000668280 RCV001221744 RCV003472095

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337983985

rs_1553231739

5 SubmittersRCV000669958 RCV001784260 RCV003472121 RCV003653256

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

SNV
Unknown

Chr1:2406483

Likely pathogenic

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

No Assertion Criteria Provided

CA337983986

rs_1553231739

1 SubmittersRCV000673106

NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)

SNV
Germline

Chr1:2406569

Likely pathogenic

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

Criteria Provided
Single Submitter

CA337984483

rs_1414973726

2 SubmittersRCV000674714 RCV001377362

NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)

SNV
Unknown

Chr1:2406606

Likely pathogenic

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

No Assertion Criteria Provided

CA337984744

rs_769251149

1 SubmittersRCV000669210

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

SNV
Unknown

Chr1:2406718

Likely pathogenic

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

Criteria Provided
Single Submitter

CA337984924

rs_1335685844

2 SubmittersRCV000670741 RCV003472130

NM_002617.4(PEX10):c.113-1G>A

SNV
Germline

Chr1:2410452

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16946818

rs_867305222

3 SubmittersRCV000668368 RCV002530744 RCV004568516

NM_002617.4(PEX10):c.913-2A>C

SNV
Germline

Chr1:2405836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA537956

rs_758250423

4 SubmittersRCV000671708 RCV001855565 RCV003472141

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

SNV
Unknown

Chr1:2406718

Likely pathogenic

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

No Assertion Criteria Provided

CA337984925

rs_1335685844

1 SubmittersRCV000668740

NM_000287.4(PEX6):c.2806+1G>A

SNV
Unknown

Chr6:42964789

Likely pathogenic

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

Criteria Provided
Single Submitter

CA3810907

rs_751900826

2 SubmittersRCV000672043 RCV004568548

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
Peroxisome biogenesis disorder 4A (Zellweger)
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

9 SubmittersRCV000666171 RCV001242506 RCV001198918 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)

Criteria Provided
Conflicting Classifications

CA138222768

rs_267608240

7 SubmittersRCV000672227 RCV000780591 RCV001311716 RCV003472146 RCV004788099

NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)

SNV
Germline

Chr6:42966050

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138222771

rs_267608239

6 SubmittersRCV000669028 RCV001201401 RCV001007606 RCV001532548 RCV003530093 RCV003472109

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

SNV
Germline

Chr6:42969802

Likely pathogenic

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

Criteria Provided
Single Submitter

CA364155964

rs_1554127533

2 SubmittersRCV000674014 RCV001861831

NM_000288.4(PEX7):c.189-2A>G

SNV
Germline

Chr6:136826317

Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365855702

rs_1554328952

2 SubmittersRCV000671094 RCV004568540

NM_000287.4(PEX6):c.2472-2A>G

SNV
Germline

Chr6:42965370

Likely pathogenic

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

Criteria Provided
Single Submitter

CA138222171

rs_267608242

2 SubmittersRCV000667079 RCV002530706

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138223536

rs_267608229

6 SubmittersRCV000665084 RCV001280661 RCV002224971 RCV003472068 RCV005034234

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

SNV
Germline

Chr6:42978663

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811614

rs_778791031

7 SubmittersRCV000664899 RCV000731346 RCV001247917 RCV001835068 RCV002530640 RCV002485520

NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)

SNV
Unknown

Chr6:42979018

Likely pathogenic

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

No Assertion Criteria Provided

CA364168892

rs_1356280167

1 SubmittersRCV000669517

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

Criteria Provided
Conflicting Classifications

CA138238795

rs_61752139

3 SubmittersRCV000673775 RCV002531343 RCV003472161

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3811017

rs_61753229

6 SubmittersRCV000670936 RCV000857244 RCV001379858 RCV003472131 RCV005034259

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_000287.4(PEX6):c.1238G>T (p.Gly413Val)

SNV
Germline

Chr6:42969797

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364155946

rs_1554127531

4 SubmittersRCV000672797 RCV001268931 RCV005034267 RCV004586868

NM_000287.4(PEX6):c.1046+1G>A

SNV
Unknown

Chr6:42974874

Likely pathogenic

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

No Assertion Criteria Provided

CA364159325

rs_1554127968

1 SubmittersRCV000669488

NM_000287.4(PEX6):c.2T>G (p.Met1Arg)

SNV
Unknown

Chr6:42979149

Likely pathogenic

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

No Assertion Criteria Provided

CA364170148

rs_1554128597

1 SubmittersRCV000670830

NM_000466.3(PEX1):c.3207+2C>A

SNV
Unknown

Chr7:92492951

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

No Assertion Criteria Provided

CA368165771

rs_1554368097

1 SubmittersRCV000674724

NM_000466.3(PEX1):c.472+1G>A

SNV
Germline

Chr7:92518140

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161974047

rs_762852144

3 SubmittersRCV000668226 RCV003338727 RCV005046878

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

SNV
Germline

Chr7:92522101

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368204649

rs_1554376597

5 SubmittersRCV000674474 RCV001377626 RCV002499189 RCV003472170

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

SNV
Germline

Chr7:92528431

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341710

rs_762679408

5 SubmittersRCV000674254 RCV001201378 RCV003472166 RCV005034275

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

SNV
Germline

Chr7:92493083

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161954483

rs_954814470

5 SubmittersRCV000669293 RCV000729582 RCV001332474 RCV002531221 RCV003472113

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

SNV
Germline

Chr7:92493122

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368167099

rs_1484321655

3 SubmittersRCV000666769 RCV001004316 RCV001377622 RCV003472081

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

SNV
Germline

Chr7:92496779

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368171328

rs_1554369234

3 SubmittersRCV000668286 RCV002530739 RCV003472097

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

SNV
Germline

Chr7:92504730

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368182701

rs_1478905473

2 SubmittersRCV000668401 RCV003594017

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

SNV
Germline

Chr7:92506251

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4341272

rs_61750409

5 SubmittersRCV000665705 RCV001193608 RCV001868206 RCV003420172 RCV003472072

NM_000466.3(PEX1):c.1587+2T>C

SNV
Unknown

Chr7:92510942

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

No Assertion Criteria Provided

CA368188660

rs_1554373578

1 SubmittersRCV000666658

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

SNV
Unknown

Chr7:92517275

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

No Assertion Criteria Provided

CA368196891

rs_756876301

1 SubmittersRCV000673475

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

SNV
Germline

Chr7:92528435

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368207556

rs_1057517501

3 SubmittersRCV000667385 RCV001091386 RCV003767954

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

SNV
Unknown

Chr7:92491271

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

No Assertion Criteria Provided

CA368163233

rs_1554367284

1 SubmittersRCV000673696

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

SNV
Germline

Chr7:92494567

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4340993

rs_61750425

4 SubmittersRCV000672142 RCV001242973 RCV001662740 RCV003472144

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

SNV
Germline

Chr7:92507020

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161966090

rs_61750407

4 SubmittersRCV000664531 RCV003594015 RCV003472062

NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)

SNV
Unknown

Chr7:92511649

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

No Assertion Criteria Provided

CA368191074

rs_1554373801

1 SubmittersRCV000666081

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

SNV
Germline

Chr7:92517946

Pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Single Submitter

CA368201163

rs_1554375599

3 SubmittersRCV000665963 RCV001229220

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

SNV
Unknown

Chr7:92518043

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

No Assertion Criteria Provided

CA368201897

rs_1554375661

1 SubmittersRCV000673127

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

SNV
Unknown

Chr7:92518043

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

No Assertion Criteria Provided

CA368201892

rs_1554375661

1 SubmittersRCV000673458

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

SNV
Germline

Chr7:92518257

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368202694

rs_1057517500

5 SubmittersRCV000670124 RCV002477500 RCV001855537 RCV004568536

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

SNV
Unknown

Chr7:92518994

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

No Assertion Criteria Provided

CA368202814

rs_866144313

1 SubmittersRCV000668706

NM_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

10 SubmittersRCV000664468 RCV000780588 RCV001053880 RCV001275871 RCV002281578 RCV003231574

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

SNV
Unknown

Chr8:76983875

Likely pathogenic

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

No Assertion Criteria Provided

CA371557640

rs_200065382

1 SubmittersRCV000669502

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

Criteria Provided
Conflicting Classifications

CA4788654

rs_749956542

5 SubmittersRCV000674153 RCV001855605 RCV003156108 RCV005431869

NM_000318.3(PEX2):c.-17-2A>G

SNV
Germline

Chr8:76984197

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA583367336

rs_1289852067

3 SubmittersRCV000672992 RCV001251181

NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)

SNV
Unknown

Chr17:35575884

Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)

No Assertion Criteria Provided

CA290068101

rs_941358133

1 SubmittersRCV000667563

NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)

SNV
Unknown

Chr17:35577054

Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399137650

rs_1555549841

2 SubmittersRCV000668008 RCV003472093

NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)

SNV
Germline

Chr17:35577258

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)
PEX12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA399138085

rs_1555549855

3 SubmittersRCV000666724 RCV003534546 RCV004547837

NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)

SNV
Germline

Chr17:35577507

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA8504947

rs_767447750

4 SubmittersRCV000666102 RCV001861749

NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)

SNV
Germline

Chr17:35576073

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA8504840

rs_747099919

3 SubmittersRCV000666647 RCV001237704

NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)

SNV
Germline

Chr17:35577973

Pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA290070309

rs_888633730

2 SubmittersRCV000665795 RCV002532046

NM_000286.3(PEX12):c.680+1G>A

SNV
Germline

Chr17:35577037

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA290069178

rs_904972651

4 SubmittersRCV000674616 RCV001861845

NM_000286.3(PEX12):c.126+2T>A

SNV
Unknown

Chr17:35577894

Likely pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder type 3B

No Assertion Criteria Provided

CA399138814

rs_1555549902

1 SubmittersRCV000671104

NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)

SNV
Germline

Chr17:35577093

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA8504880

rs_61752106

5 SubmittersRCV000671389 RCV000781711 RCV000819199

NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)

SNV
Germline

Chr17:35577114

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA8504882

rs_61752105

4 SubmittersRCV000666766 RCV001390433

NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)

SNV
Germline

Chr17:35577496

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA8504943

rs_765404768

4 SubmittersRCV000670011 RCV001855532

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_004813.4(PEX16):c.859C>T (p.Arg287Cys)

SNV
Germline

Chr11:45913847

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder
Condition: not provided
Peroxisome biogenesis disorder 8A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA5959797

rs_769772100

6 SubmittersRCV000680059 RCV001236014 RCV003133504 RCV003152611

NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)

SNV
Germline

Chr2:61031791

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1673303

rs_369851185

2 SubmittersRCV000707004 RCV001784347

NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)

SNV
Germline

Chr2:61031834

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1673305

rs_553968959

3 SubmittersRCV000697441 RCV001268567 RCV004782516

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)
Peroxisome biogenesis disorder 4B
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3811176

rs_781475201

3 SubmittersRCV000698404 RCV003472225 RCV005034311

NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)

SNV
Germline

Chr6:42968944

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364155368

rs_1561823098

5 SubmittersRCV000694665 RCV004720277 RCV004820094 RCV005034304 RCV004760722

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

SNV
Germline

Chr7:92494568

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161955790

rs_866184460

5 SubmittersRCV000704649 RCV001580539 RCV004796289 RCV003472246

NM_002618.4(PEX13):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr2:61031912

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346943974

rs_1559035738

1 SubmittersRCV000694806

NM_000287.4(PEX6):c.2667-2A>C

SNV
Germline

Chr6:42964931

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364150527

rs_267608249

1 SubmittersRCV000697638

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_001127649.3(PEX26):c.48G>T (p.Gly16=)

SNV
Germline

Chr22:18078424

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10093205

rs_764244307

2 SubmittersRCV000728127 RCV002060968

NM_002617.4(PEX10):c.378C>T (p.Pro126=)

SNV
Germline

Chr1:2408674

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Conflicting Classifications

CA538190

rs_762783424

2 SubmittersRCV000728278 RCV001437340

NM_000288.4(PEX7):c.843A>G (p.Thr281=)

SNV
Germline

Chr6:136898181

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4017781

rs_767903764

4 SubmittersRCV000728556 RCV001155828 RCV001155829 RCV004958063

NM_001351132.2(PEX5):c.129A>G (p.Gly43=)

SNV
Germline

Chr12:7190506

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426002

rs_932238098

3 SubmittersRCV000728580 RCV001456831 RCV003945776

NM_000466.3(PEX1):c.3517C>T (p.Gln1173Ter)

SNV
Germline

Chr7:92489833

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368161729

rs_1562842708

2 SubmittersRCV000728637 RCV005046985

NM_004813.4(PEX16):c.996C>T (p.Phe332=)

SNV
Germline

Chr11:45910269

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959721

rs_200546977

2 SubmittersRCV000728714 RCV002060971

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

Criteria Provided
Conflicting Classifications

CA3811409

rs_752177240

4 SubmittersRCV000728855 RCV001786416 RCV003330924 RCV004547922

NM_001127649.3(PEX26):c.667+8A>G

SNV
Germline

Chr22:18083740

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Conflicting Classifications

CA10093373

rs_200880379

4 SubmittersRCV000728930 RCV001085287 RCV001146682

NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)

SNV
Germline

Chr1:10474995

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA583658

rs_12068754

3 SubmittersRCV000728945 RCV001087548 RCV003938101

NM_001127649.3(PEX26):c.318C>G (p.Val106=)

SNV
Germline

Chr22:18079961

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA10093287

rs_142072315

3 SubmittersRCV000729073 RCV001078816 RCV003947916

NM_004565.3(PEX14):c.816G>A (p.Thr272=)

SNV
Germline

Chr1:10629669

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583971

rs_572028093

2 SubmittersRCV000729205 RCV001426559

NM_004813.4(PEX16):c.541+8G>A

SNV
Germline

Chr11:45914596

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA913190260

rs_1565081217

2 SubmittersRCV000729251 RCV002535110

NM_004813.4(PEX16):c.774C>T (p.Ser258=)

SNV
Germline

Chr11:45913932

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA221587450

rs_1031968916

2 SubmittersRCV000729309 RCV002535114

NM_000287.4(PEX6):c.759T>C (p.Asp253=)

SNV
Germline

Chr6:42978392

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811569

rs_374342179

2 SubmittersRCV000729556 RCV001405565

NM_004565.3(PEX14):c.1101C>T (p.Pro367=)

SNV
Germline

Chr1:10629954

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA584032

rs_146053705

3 SubmittersRCV000729559 RCV001415800 RCV003892616

NM_001127649.3(PEX26):c.243G>T (p.Val81=)

SNV
Germline

Chr22:18079886

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10093278

rs_772417180

2 SubmittersRCV000729569 RCV002535121

NM_000287.4(PEX6):c.219G>A (p.Gln73=)

SNV
Germline

Chr6:42978932

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811642

rs_191944205

2 SubmittersRCV000729645 RCV001089329

NM_004565.3(PEX14):c.996T>C (p.Asp332=)

SNV
Germline

Chr1:10629849

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA584015

rs_201978719

2 SubmittersRCV000729648 RCV002060978

NM_000288.4(PEX7):c.630T>C (p.Asn210=)

SNV
Germline

Chr6:136866730

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA452227852

rs_1466368201

2 SubmittersRCV000729666 RCV001467161

NM_004813.4(PEX16):c.885C>T (p.Ser295=)

SNV
Germline

Chr11:45913821

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder
PEX16-related disorder

Criteria Provided
Conflicting Classifications

CA5959787

rs_200415017

3 SubmittersRCV000729713 RCV001427814 RCV003918199

NM_002618.4(PEX13):c.408T>A (p.Ile136=)

SNV
Germline

Chr2:61031734

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)
PEX13-related disorder

Criteria Provided
Conflicting Classifications

CA1673294

rs_145776973

3 SubmittersRCV000729741 RCV001467803 RCV004547926

NM_001351132.2(PEX5):c.1848G>A (p.Gln616=)

SNV
Germline

Chr12:7210151

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426602

rs_551068158

2 SubmittersRCV000729818 RCV001403463

NM_000286.3(PEX12):c.570A>G (p.Ser190=)

SNV
Germline

Chr17:35577148

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 3A (Zellweger)
PEX12-related disorder

Criteria Provided
Conflicting Classifications

CA8504888

rs_758132842

3 SubmittersRCV000729923 RCV001079059 RCV004547927

NM_001127649.3(PEX26):c.33C>G (p.Pro11=)

SNV
Germline

Chr22:18078409

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA10093199

rs_199668827

3 SubmittersRCV000730019 RCV002060988 RCV003965517

NM_004565.3(PEX14):c.48T>C (p.Thr16=)

SNV
Germline

Chr1:10495285

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
not specified

Criteria Provided
Conflicting Classifications

CA583685

rs_779545665

3 SubmittersRCV000730109 RCV001426838 RCV003330925

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

SNV
Germline

Chr7:92491494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340868

rs_140963147

8 SubmittersRCV000730111 RCV001082990 RCV001275213 RCV001816798 RCV003953310

NM_004813.4(PEX16):c.273C>T (p.Cys91=)

SNV
Germline

Chr11:45915789

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5960027

rs_146476007

2 SubmittersRCV000730189 RCV001450374

NM_002618.4(PEX13):c.-7G>A

SNV
Germline

Chr2:61017753

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA48328079

rs_200847026

2 SubmittersRCV000730222 RCV001140448

NM_002617.4(PEX10):c.633G>C (p.Leu211=)

SNV
Germline

Chr1:2406863

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Conflicting Classifications

CA415775717

rs_1442790649

2 SubmittersRCV000730407 RCV002067107

NM_002618.4(PEX13):c.18A>G (p.Pro6=)

SNV
Germline

Chr2:61017777

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1673186

rs_769300208

2 SubmittersRCV000730443 RCV001482425

NM_004813.4(PEX16):c.87G>A (p.Val29=)

SNV
Germline

Chr11:45917725

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA473861521

rs_1565082984

2 SubmittersRCV000730661 RCV005092143

NM_001351132.2(PEX5):c.543C>T (p.Thr181=)

SNV
Germline

Chr12:7199105

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426163

rs_138205085

2 SubmittersRCV000730677 RCV001422472

NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser)

SNV
Germline

Chr6:42966360

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811105

rs_577794661

2 SubmittersRCV000730903 RCV001868959

NM_004565.3(PEX14):c.543G>A (p.Gln181=)

SNV
Germline

Chr1:10624395

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA415885995

rs_1557438039

2 SubmittersRCV000730933 RCV003758917

NM_002857.4(PEX19):c.70+7G>T

SNV
Germline

Chr1:160285048

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197504

rs_758203051

2 SubmittersRCV000730940 RCV002060997

NM_004565.3(PEX14):c.693A>G (p.Pro231=)

SNV
Germline

Chr1:10629546

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583946

rs_145899844

2 SubmittersRCV000731010 RCV001088961

NM_004813.4(PEX16):c.684G>A (p.Pro228=)

SNV
Germline

Chr11:45914326

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959877

rs_777904359

2 SubmittersRCV000731036 RCV001495031

NM_002617.4(PEX10):c.363C>T (p.Pro121=)

SNV
Germline

Chr1:2408689

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Conflicting Classifications

CA538198

rs_543982780

2 SubmittersRCV000731162 RCV001453168

NM_000318.3(PEX2):c.174G>A (p.Ala58=)

SNV
Germline

Chr8:76984005

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4788759

rs_150987080

3 SubmittersRCV000731227 RCV001492356

NM_004565.3(PEX14):c.330C>T (p.Gly110=)

SNV
Germline

Chr1:10618363

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA583805

rs_772527603

3 SubmittersRCV000731291 RCV001855758 RCV003892633

NM_002618.4(PEX13):c.54G>A (p.Pro18=)

SNV
Germline

Chr2:61017813

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA426181724

rs_1002699754

2 SubmittersRCV000731302 RCV001855655

NM_004565.3(PEX14):c.416G>A (p.Arg139Gln)

SNV
Germline

Chr1:10623050

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA583846

rs_147683525

4 SubmittersRCV000731303 RCV002477704 RCV001044283 RCV004958067

NM_001127649.3(PEX26):c.423G>A (p.Val141=)

SNV
Germline

Chr22:18083488

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA10093324

rs_749533743

2 SubmittersRCV000731392 RCV001855659

NM_004813.4(PEX16):c.695-5G>A

SNV
Germline

Chr11:45914208

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959857

rs_775367961

2 SubmittersRCV000731467 RCV001481027

NM_004813.4(PEX16):c.612G>A (p.Glu204=)

SNV
Germline

Chr11:45914398

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959900

rs_758739455

2 SubmittersRCV000731570 RCV002535219

NM_002618.4(PEX13):c.1095G>A (p.Thr365=)

SNV
Germline

Chr2:61048653

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1673433

rs_754460647

2 SubmittersRCV000731585 RCV002067123

NM_004565.3(PEX14):c.222C>T (p.Ala74=)

SNV
Germline

Chr1:10599290

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583757

rs_147043673

2 SubmittersRCV000731676 RCV001088522

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_004565.3(PEX14):c.1056C>T (p.Gly352=)

SNV
Germline

Chr1:10629909

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA17855235

rs_372035480

2 SubmittersRCV000731767 RCV002535240

NM_004565.3(PEX14):c.303C>T (p.Pro101=)

SNV
Germline

Chr1:10618336

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA583795

rs_199552789

3 SubmittersRCV000731832 RCV001477343 RCV003975281

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_004813.4(PEX16):c.27C>T (p.Leu9=)

SNV
Germline

Chr11:45917785

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA221592724

rs_913040375

2 SubmittersRCV000732083 RCV001494470

NM_000287.4(PEX6):c.807A>G (p.Gly269=)

SNV
Germline

Chr6:42978344

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811560

rs_774117516

2 SubmittersRCV000732098 RCV001855674

NM_000287.4(PEX6):c.762A>G (p.Arg254=)

SNV
Germline

Chr6:42978389

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811568

rs_777826616

2 SubmittersRCV000732144 RCV001410049

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.423G>A (p.Ala141=)

SNV
Germline

Chr1:2408629

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Conflicting Classifications

CA538180

rs_138171306

2 SubmittersRCV000732267 RCV001440369

NM_002618.4(PEX13):c.9C>T (p.Ser3=)

SNV
Germline

Chr2:61017768

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1673185

rs_745465894

2 SubmittersRCV000732567 RCV002061011

NM_000287.4(PEX6):c.1137G>A (p.Arg379=)

SNV
Germline

Chr6:42969981

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA450365845

rs_766574538

2 SubmittersRCV000732573 RCV002067134

NM_001351132.2(PEX5):c.660G>A (p.Arg220=)

SNV
Germline

Chr12:7202258

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA232471184

rs_541455903

2 SubmittersRCV000732574 RCV003497881

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_002618.4(PEX13):c.226A>G (p.Ser76Gly)

SNV
Germline

Chr2:61031552

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1673258

rs_148296743

2 SubmittersRCV000732631 RCV001080682

NM_001127649.3(PEX26):c.324G>A (p.Gln108=)

SNV
Germline

Chr22:18079967

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA512915365

rs_1569186417

2 SubmittersRCV000732884 RCV003768228

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

SNV
Germline

Chr6:42978296

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138237512

rs_757897959

4 SubmittersRCV000732962 RCV001731914 RCV001835944 RCV001474745

NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu)

SNV
Germline

Chr22:18078474

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder

Criteria Provided
Conflicting Classifications

CA10093221

rs_368118099

4 SubmittersRCV000732996 RCV001137938 RCV001351715 RCV004754547

NM_000287.4(PEX6):c.465G>C (p.Leu155=)

SNV
Germline

Chr6:42978686

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA450366730

rs_1187015124

2 SubmittersRCV000733034 RCV001452897

NM_003630.3(PEX3):c.288-1G>A

SNV
Germline

Chr6:143468121

Pathogenic/Likely pathogenic

Condition: not provided
PEX3-related disorder
Peroxisome biogenesis disorder 10A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA4029531

rs_752904598

4 SubmittersRCV000733168 RCV003396309 RCV004559642

NM_004565.3(PEX14):c.882C>G (p.Gly294=)

SNV
Germline

Chr1:10629735

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA17854980

rs_928631810

2 SubmittersRCV000733623 RCV002535340

NM_000288.4(PEX7):c.867T>C (p.Thr289=)

SNV
Germline

Chr6:136898205

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA148218739

rs_936175997

3 SubmittersRCV000733682 RCV001085736 RCV004027069

NM_000288.4(PEX7):c.339+10A>C

SNV
Germline

Chr6:136826479

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA4017557

rs_374668045

2 SubmittersRCV000733981 RCV001396207

NM_001351132.2(PEX5):c.831C>T (p.Ala277=)

SNV
Germline

Chr12:7202689

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426286

rs_747216258

2 SubmittersRCV000734045 RCV001086564

NM_000288.4(PEX7):c.171G>C (p.Gly57=)

SNV
Germline

Chr6:136825254

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata

Criteria Provided
Conflicting Classifications

CA4017506

rs_750791932

3 SubmittersRCV000734103 RCV001424832 RCV001830637

NM_001351132.2(PEX5):c.48G>A (p.Pro16=)

SNV
Germline

Chr12:7190425

Conflicting classifications of pathogenicity

Condition: not provided
PEX5-related disorder
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6425980

rs_147958315

3 SubmittersRCV000734185 RCV003965547 RCV001469755

NM_002857.4(PEX19):c.369A>G (p.Gln123=)

SNV
Germline

Chr1:160282480

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Conflicting Classifications

CA1197378

rs_749676675

2 SubmittersRCV000734191 RCV001369940

NM_001351132.2(PEX5):c.753+10T>C

SNV
Germline

Chr12:7202361

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426253

rs_373242881

3 SubmittersRCV000734195 RCV001396812 RCV003965548

NM_000287.4(PEX6):c.1206C>T (p.Ala402=)

SNV
Germline

Chr6:42969912

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811413

rs_756358409

2 SubmittersRCV000734215 RCV001439112

NM_001351132.2(PEX5):c.969G>T (p.Gly323=)

SNV
Germline

Chr12:7207661

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA478186397

rs_201244651

2 SubmittersRCV000734219 RCV005056494

NM_000318.3(PEX2):c.579G>A (p.Arg193=)

SNV
Germline

Chr8:76983600

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA461773361

rs_1395525519

2 SubmittersRCV000734260 RCV003768242

NM_000287.4(PEX6):c.363G>A (p.Gly121=)

SNV
Germline

Chr6:42978788

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA450366418

rs_1282410534

2 SubmittersRCV000734591 RCV002061020

NM_004565.3(PEX14):c.516C>T (p.Ser172=)

SNV
Germline

Chr1:10624368

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583882

rs_543843635

3 SubmittersRCV000734597 RCV001101252 RCV001512976

NM_000287.4(PEX6):c.123G>A (p.Arg41=)

SNV
Germline

Chr6:42979028

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA450366217

rs_1561831496

2 SubmittersRCV000734694 RCV003645874

NM_000288.4(PEX7):c.418-4G>A

SNV
Germline

Chr6:136846069

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 9B

Criteria Provided
Conflicting Classifications

CA4017611

rs_199552223

2 SubmittersRCV000734789 RCV001404304

NM_001351132.2(PEX5):c.1647C>T (p.Leu549=)

SNV
Germline

Chr12:7209769

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426535

rs_753512677

2 SubmittersRCV000734917 RCV001474199

NM_001351132.2(PEX5):c.551+8C>T

SNV
Germline

Chr12:7199121

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426166

rs_775578165

2 SubmittersRCV000734925 RCV002535401

NM_000286.3(PEX12):c.597G>A (p.Gln199=)

SNV
Germline

Chr17:35577121

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Conflicting Classifications

CA8504885

rs_756193716

2 SubmittersRCV000735016 RCV002535412

NM_001127649.3(PEX26):c.795G>A (p.Leu265=)

SNV
Germline

Chr22:18085239

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Conflicting Classifications

CA321290527

rs_904472324

2 SubmittersRCV000735017 RCV001855829

NM_004813.4(PEX16):c.18C>G (p.Leu6=)

SNV
Germline

Chr11:45917794

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA221592762

rs_921940265

2 SubmittersRCV000735029 RCV002067176

NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter)

SNV
Germline

Chr12:7191613

Pathogenic/Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA383712240

rs_1565673352

2 SubmittersRCV000760578 RCV000795747

NM_003630.3(PEX3):c.412G>A (p.Gly138Arg)

SNV
Germline

Chr6:143471041

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA365909968

rs_1562654527

2 SubmittersRCV001772038 RCV000778168

NM_003630.3(PEX3):c.942-8T>G

SNV
Germline

Chr6:143485144

Pathogenic

Peroxisome biogenesis disorder 10A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)

Criteria Provided
Single Submitter

CA149043447

rs_267608193

2 SubmittersRCV000006998 RCV000778169

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138238675

rs_61752140

4 SubmittersRCV000778791 RCV003472309 RCV004549851 RCV005036108

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

SNV
Germline

Chr7:92501938

Pathogenic

Zellweger spectrum disorders
Peroxisome biogenesis disorder
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4341148

rs_61750417

4 SubmittersRCV000798670 RCV000780584 RCV003472313

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

SNV
Germline

Chr7:92506246

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368184509

rs_1562857198

3 SubmittersRCV000780587 RCV001377624 RCV001570534

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

SNV
Germline

Chr7:92522247

Pathogenic

Condition: not provided
Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368205303

rs_1585260993

3 SubmittersRCV001091385 RCV001796215 RCV005614447

NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)

SNV
Germline

Chr6:42966545

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA138223442

rs_201306028

2 SubmittersRCV000796889 RCV003472350

NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)

SNV
Germline

Chr8:76983682

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

CA371557216

rs_1586069639

1 SubmittersRCV000820647

NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr8:76983947

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371557804

rs_1586070043

3 SubmittersRCV000805043 RCV005049698

NM_000288.4(PEX7):c.130+1G>A

SNV
Germline

Chr6:136822796

Pathogenic

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA148640691

rs_267608253

4 SubmittersRCV000792527 RCV001004175

NM_000287.4(PEX6):c.2094+1G>A

SNV
Germline

Chr6:42966524

Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364152575

rs_1581760572

3 SubmittersRCV000826126 RCV003473522

NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser)

SNV
Germline

Chr6:42966297

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364152215

rs_1244339215

3 SubmittersRCV000857243 RCV002538893 RCV005047129

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

SNV
Germline

Chr8:76983287

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4788637

rs_544763390

4 SubmittersRCV000970645 RCV001578803 RCV001276113 RCV003905995

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_001351132.2(PEX5):c.1800G>A (p.Ser600=)

SNV
Germline

Chr12:7210103

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426594

rs_370306007

3 SubmittersRCV000903111 RCV001109187 RCV003975755

NM_004565.3(PEX14):c.861G>T (p.Thr287=)

SNV
Germline

Chr1:10629714

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583984

rs_371329619

2 SubmittersRCV001095809 RCV002544458

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_004565.3(PEX14):c.766G>A (p.Val256Met)

SNV
Germline

Chr1:10629619

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder, complementation group K
Peroxisome biogenesis disorder 13A (Zellweger)
PEX14-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA583964

rs_143378690

4 SubmittersRCV000983951 RCV001101254 RCV003953394 RCV004792598

NM_000287.4(PEX6):c.235G>A (p.Ala79Thr)

SNV
Germline

Chr6:42978916

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 4A (Zellweger)
Inborn genetic diseases
PEX6-related disorder

Criteria Provided
Conflicting Classifications

CA138238588

rs_61752141

4 SubmittersRCV000978017 RCV001163759 RCV002550544 RCV004553515

NM_000288.4(PEX7):c.903+8A>G

SNV
Germline

Chr6:136898249

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
PEX7-related disorder

Criteria Provided
Conflicting Classifications

CA4017789

rs_779919482

4 SubmittersRCV000978842 RCV001155830 RCV004543654

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

SNV
Germline

Chr7:92518210

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161974140

rs_201415996

5 SubmittersRCV001030786 RCV001004522 RCV001869414 RCV001784534

NM_000288.4(PEX7):c.116A>C (p.His39Pro)

SNV
Germline

Chr6:136822781

Conflicting classifications of pathogenicity

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
not specified

Criteria Provided
Conflicting Classifications

CA148640686

rs_61753237

3 SubmittersRCV001004174 RCV003473544 RCV004702573

NM_000288.4(PEX7):c.188+1G>A

SNV
Germline

Chr6:136825272

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata

Criteria Provided
Multiple Submitters
No Conflicts

CA148641045

rs_267608254

5 SubmittersRCV001004177 RCV002549235 RCV005036272 RCV005606748

NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr6:136866692

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA4017662

rs_764924345

2 SubmittersRCV001004180 RCV001234064

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

SNV
Germline

Chr7:92513867

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368192451

rs_1585248089

1 SubmittersRCV001004517

NM_000466.3(PEX1):c.180G>A (p.Trp60Ter)

SNV
Germline

Chr7:92522195

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368205062

rs_1408895107

1 SubmittersRCV001004524

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

SNV
Germline

Chr7:92522246

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161978977

rs_1028247729

3 SubmittersRCV001004525 RCV001378209 RCV002290989 RCV004569849

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

SNV
Germline

Chr7:92511579

Pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368190525

rs_1585244586

2 SubmittersRCV001030044 RCV002552037

NM_002857.4(PEX19):c.667A>G (p.Ser223Gly)

SNV
Germline

Chr1:160280174

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 12A (Zellweger)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1197283

rs_778154365

2 SubmittersRCV001066713 RCV003160550

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_000288.4(PEX7):c.128C>T (p.Ala43Val)

SNV
Germline

Chr6:136822793

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Connective tissue disorder
Condition: not provided
Inborn genetic diseases
PEX7-related disorder

Criteria Provided
Conflicting Classifications

CA4017486

rs_780369944

6 SubmittersRCV001054440 RCV001274735 RCV002276603 RCV003480933 RCV003339446 RCV004733131

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

SNV
Germline

Chr6:42964861

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3810920

rs_62641232

7 SubmittersRCV001049060 RCV002479299 RCV001274622 RCV001823180 RCV003156137 RCV003473637 RCV005241422

NM_004565.3(PEX14):c.36+1G>T

SNV
Germline

Chr1:10475003

Likely pathogenic

Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Single Submitter

CA338357226

rs_1641167602

1 SubmittersRCV001068867

NM_000288.4(PEX7):c.418-1G>C

SNV
Germline

Chr6:136846072

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA4017613

rs_773406384

1 SubmittersRCV001046459

NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)

SNV
Germline

Chr1:10474992

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K
PEX14-related disorder

Criteria Provided
Conflicting Classifications

CA583657

rs_201979629

3 SubmittersRCV001097493 RCV002067743 RCV003953465

NM_004565.3(PEX14):c.912C>T (p.Asp304=)

SNV
Germline

Chr1:10629765

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA416034732

rs_1202283239

2 SubmittersRCV001097601 RCV002069648

NM_004565.3(PEX14):c.1128G>C (p.Arg376=)

SNV
Germline

Chr1:10629981

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA584040

rs_772300180

2 SubmittersRCV001097602 RCV002067746

NM_004565.3(PEX14):c.170-13C>T

SNV
Germline

Chr1:10599225

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583746

rs_182967518

2 SubmittersRCV001097495 RCV001520917

NM_004565.3(PEX14):c.488-14C>T

SNV
Germline

Chr1:10624326

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Conflicting Classifications

CA583872

rs_200684088

2 SubmittersRCV001101250 RCV002069698

NM_002617.4(PEX10):c.112+11G>T

SNV
Germline

Chr1:2412380

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA520680063

rs_1322541651

2 SubmittersRCV001095874 RCV003650601

NM_004813.4(PEX16):c.672C>T (p.Tyr224=)

SNV
Germline

Chr11:45914338

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5959881

rs_746173483

2 SubmittersRCV001105495 RCV002069736

NM_004813.4(PEX16):c.149-13C>G

SNV
Germline

Chr11:45916316

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA5960080

rs_369471815

2 SubmittersRCV001108812 RCV001413213

NM_001351132.2(PEX5):c.48G>C (p.Pro16=)

SNV
Germline

Chr12:7190425

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6425981

rs_147958315

3 SubmittersRCV001114714 RCV002069849 RCV003983838

NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)

SNV
Germline

Chr12:7208622

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426429

rs_778715159

2 SubmittersRCV001113431 RCV001459094

NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)

SNV
Germline

Chr12:7209155

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426481

rs_762815657

2 SubmittersRCV001114828 RCV002556250

NM_001351132.2(PEX5):c.317-6T>C

SNV
Germline

Chr12:7191563

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Inborn genetic diseases
PEX5-related disorder

Criteria Provided
Conflicting Classifications

CA6426112

rs_755945291

4 SubmittersRCV001114716 RCV001476902 RCV002556248 RCV003928713

NM_001351132.2(PEX5):c.1395-14T>C

SNV
Germline

Chr12:7208991

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA1139662493

rs_1945174737

2 SubmittersRCV001113432 RCV002069829

NM_003630.3(PEX3):c.332-9T>A

SNV
Germline

Chr6:143470952

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 10A (Zellweger)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4029548

rs_774963514

2 SubmittersRCV001156181 RCV002032439

NM_000287.4(PEX6):c.2601G>T (p.Leu867=)

SNV
Germline

Chr6:42965140

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA450253216

rs_1769712635

2 SubmittersRCV001163369 RCV002067985

NM_000287.4(PEX6):c.2547C>T (p.Asn849=)

SNV
Germline

Chr6:42965293

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA450253275

rs_1171568759

2 SubmittersRCV001163370 RCV001402174

NM_000287.4(PEX6):c.681G>A (p.Gln227=)

SNV
Germline

Chr6:42978470

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA450366431

rs_1770406319

2 SubmittersRCV001163469 RCV001470791

NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)

SNV
Germline

Chr6:49435617

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8B
not specified

Criteria Provided
Conflicting Classifications

CA3846688

rs_541001298

6 SubmittersRCV001160810 RCV002557373 RCV001250072 RCV004032848

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_000318.3(PEX2):c.*1174A>G

SNV
Germline

Chr8:76982087

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179988109

rs_562263817

2 SubmittersRCV001163463 RCV003433065

NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)

SNV
Germline

Chr8:76983655

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 5A (Zellweger)
See cases

Criteria Provided
Conflicting Classifications

CA4788691

rs_770427885

3 SubmittersRCV001163867 RCV002252321

NM_000287.4(PEX6):c.1367+10G>A

SNV
Germline

Chr6:42969658

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Conflicting Classifications

CA3811356

rs_776610051

2 SubmittersRCV001158732 RCV001453595

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

SNV
Germline

Chr7:92489437

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340768

rs_745612436

2 SubmittersRCV001160446 RCV002070981

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

SNV
Germline

Chr7:92494404

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4340960

rs_778618662

2 SubmittersRCV001164104 RCV001394600

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

SNV
Germline

Chr7:92504916

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1139660136

rs_1792111444

3 SubmittersRCV001160558 RCV002483910 RCV003759000

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

SNV
Germline

Chr7:92506356

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA161965655

rs_143041528

2 SubmittersRCV001160559 RCV002070986

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

SNV
Germline

Chr7:92507139

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 1A (Zellweger)
Zellweger spectrum disorders

Criteria Provided
Conflicting Classifications

CA4341327

rs_757960956

2 SubmittersRCV001162172 RCV002071012

NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)

SNV
Germline

Chr22:18083639

Pathogenic

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Condition: not provided
Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA10093357

rs_61752136

7 SubmittersRCV001192671 RCV001390132 RCV002307697 RCV003473729

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.2663G>C (p.Arg888Pro)

SNV
Germline

Chr6:42965078

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 4A (Zellweger)
Heimler syndrome 2
not specified
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Heimler syndrome 2

Criteria Provided
Conflicting Classifications

CA138221658

rs_267608247

4 SubmittersRCV001197230 RCV003473734 RCV004526812 RCV005040006

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

SNV
Germline

Chr6:42978608

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811606

rs_368560418

4 SubmittersRCV001223288 RCV004738198 RCV001833933 RCV003132291

NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter)

SNV
Germline

Chr6:42966623

Pathogenic

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA364152868

rs_1769818844

2 SubmittersRCV001212521 RCV004789478

NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter)

SNV
Germline

Chr6:42974079

Pathogenic

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA138230769

rs_267608212

2 SubmittersRCV001210412 RCV004789476

NM_004813.4(PEX16):c.592C>T (p.Arg198Trp)

SNV
Germline

Chr11:45914418

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5959912

rs_774218187

2 SubmittersRCV001201679 RCV005463282

NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr12:7191610

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383712208

rs_1941140792

1 SubmittersRCV001208551

NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter)

SNV
Germline

Chr12:7202307

Pathogenic

Peroxisome biogenesis disorder 2B
PEX5-related disorder

Criteria Provided
Single Submitter

CA6426245

rs_777733574

2 SubmittersRCV001213622 RCV004749624

NM_000287.4(PEX6):c.2363-2A>C

SNV
Germline

Chr6:42965791

Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364151756

rs_1769772582

2 SubmittersRCV001215764 RCV003473766

NM_002618.4(PEX13):c.939G>A (p.Trp313Ter)

SNV
Germline

Chr2:61048497

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346949582

rs_1428782325

1 SubmittersRCV001237439

NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter)

SNV
Germline

Chr6:42974059

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364158401

rs_1478799269

2 SubmittersRCV001226510 RCV004796379

NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr22:18083558

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

CA410267674

rs_781370363

1 SubmittersRCV001231938

NM_002617.4(PEX10):c.601-3C>T

SNV
Germline

Chr1:2406898

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337985805

rs_369643163

1 SubmittersRCV001242136

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

SNV
Germline

Chr6:42966627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3811146

rs_267608230

5 SubmittersRCV001248070 RCV004697090 RCV001836248 RCV002480855 RCV003473835

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

SNV
Germline

Chr6:42968413

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

CA4341198

rs_141510219

7 SubmittersRCV001247525 RCV001250066 RCV003481031 RCV004034895 RCV003393917

NM_000287.4(PEX6):c.1688+1G>T

SNV
Germline

Chr6:42968289

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364153987

rs_112298166

1 SubmittersRCV001236261

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

SNV
Germline

Chr7:92491505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4340872

rs_763767937

3 SubmittersRCV001237503 RCV004727025

NM_000287.4(PEX6):c.2667-2A>G

SNV
Germline

Chr6:42964931

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA138221524

rs_267608249

1 SubmittersRCV001246113

NM_000287.4(PEX6):c.611C>G (p.Ser204Ter)

SNV
Germline

Chr6:42978540

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3811598

rs_773056086

2 SubmittersRCV001250079 RCV004798893

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

SNV
Germline

Chr6:42978268

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138237421

rs_267608207

4 SubmittersRCV001250531 RCV005040100 RCV002570424 RCV004570641

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

SNV
Germline

Chr6:42965261

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3810989

rs_61753231

6 SubmittersRCV001265583 RCV001309121 RCV004699248 RCV001830065 RCV003473843 RCV005038022

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

SNV
Germline

Chr6:42969799

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA450366124

rs_1196012985

3 SubmittersRCV001280381 RCV002486073 RCV001871606

NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)

SNV
Germline

Chr6:136826364

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Condition: not provided
Inborn genetic diseases
PEX7-related disorder

Criteria Provided
Conflicting Classifications

CA4017532

rs_560350898

5 SubmittersRCV001470243 RCV001810638 RCV002447255 RCV004733231

NM_002618.4(PEX13):c.589C>T (p.Arg197Trp)

SNV
Germline

Chr2:61031915

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 11A (Zellweger)
Inborn genetic diseases
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B

Criteria Provided
Conflicting Classifications

CA48342477

rs_903847229

3 SubmittersRCV001295763 RCV002538460 RCV002486120

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

SNV
Germline

Chr7:92517617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341522

rs_751506204

4 SubmittersRCV001296754 RCV003898288 RCV005394910

NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)

SNV
Germline

Chr6:136826461

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4017554

rs_368225510

3 SubmittersRCV001324643 RCV001830992 RCV002456450

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.803C>G (p.Thr268Ser)

SNV
Germline

Chr7:92517712

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341536

rs_780119112

4 SubmittersRCV001316857 RCV003898302 RCV005394937

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

SNV
Germline

Chr1:2408833

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337989072

rs_531987102

2 SubmittersRCV003475123 RCV001904736

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

SNV
Germline

Chr7:92517794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4341552

rs_753823218

3 SubmittersRCV001339992 RCV002476567

NM_003630.3(PEX3):c.844A>C (p.Thr282Pro)

SNV
Germline

Chr6:143479101

Likely pathogenic

Peroxisome biogenesis disorder 10A (Zellweger)

Criteria Provided
Single Submitter

CA365886049

rs_1473197986

1 SubmittersRCV001376168

NM_002857.4(PEX19):c.346+2T>C

SNV
Germline

Chr1:160282942

Likely pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

CA343262745

rs_1657837348

1 SubmittersRCV001377207

NM_002857.4(PEX19):c.346+1G>A

SNV
Germline

Chr1:160282943

Likely pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

CA1197405

rs_75072667

1 SubmittersRCV001379402

NM_002857.4(PEX19):c.181-2A>G

SNV
Germline

Chr1:160283111

Likely pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

CA343264123

rs_2101804905

1 SubmittersRCV001377337

NM_002618.4(PEX13):c.787+1G>A

SNV
Germline

Chr2:61032114

Likely pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346945076

rs_2104803776

1 SubmittersRCV001377147

NM_000288.4(PEX7):c.131-1G>A

SNV
Germline

Chr6:136825213

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365855572

rs_2115129048

1 SubmittersRCV001379182

NM_000287.4(PEX6):c.2666+1G>T

SNV
Germline

Chr6:42965074

Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364150532

rs_2114236937

2 SubmittersRCV001377910 RCV003473907

NM_000287.4(PEX6):c.1689-1G>A

SNV
Germline

Chr6:42967564

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364153944

rs_267608223

2 SubmittersRCV001377541 RCV005040235

NM_000287.4(PEX6):c.1367+1G>A

SNV
Germline

Chr6:42969667

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364155530

rs_1769988075

1 SubmittersRCV001378049

NM_004813.4(PEX16):c.887+2T>G

SNV
Germline

Chr11:45913817

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380225657

rs_2134691627

1 SubmittersRCV001379404

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)

Criteria Provided
Multiple Submitters
No Conflicts

CA337985354

rs_1295555837

2 SubmittersRCV001382957 RCV003473942

NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)

SNV
Germline

Chr6:136822777

Pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365855408

rs_1774102216

1 SubmittersRCV001380524

NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter)

SNV
Germline

Chr6:42967454

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364153586

rs_1769875600

1 SubmittersRCV001385401

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

SNV
Germline

Chr6:42978404

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364162342

rs_1770400284

2 SubmittersRCV001387078 RCV003473976

NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)

SNV
Germline

Chr6:42978424

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138237724

rs_61753215

3 SubmittersRCV001381388 RCV005038178

NM_000287.4(PEX6):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr6:42978445

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA138237763

rs_779526175

1 SubmittersRCV001388881

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

SNV
Germline

Chr7:92493123

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368167101

rs_1791439311

3 SubmittersRCV001380782 RCV003473928 RCV003984857

NM_000318.3(PEX2):c.115C>T (p.Gln39Ter)

SNV
Germline

Chr8:76984064

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

CA179988280

rs_61752118

1 SubmittersRCV001383604

NM_004813.4(PEX16):c.115C>T (p.Arg39Ter)

SNV
Germline

Chr11:45917491

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380230321

rs_2134699162

1 SubmittersRCV001385073

NM_000286.3(PEX12):c.895A>T (p.Lys299Ter)

SNV
Germline

Chr17:35575967

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399137150

rs_2142228982

1 SubmittersRCV001383266

NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)

SNV
Germline

Chr17:35577387

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA290069578

rs_1056238409

2 SubmittersRCV001388910

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

SNV
Germline

Chr7:92522247

Likely pathogenic

Peroxisome biogenesis disorder
Zellweger spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA368205304

rs_1585260993

2 SubmittersRCV001420907 RCV001859336

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

SNV
Germline

Chr7:92492994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161954341

rs_1009877821

3 SubmittersRCV001496742 RCV001578741 RCV001578742 RCV001578740

NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)

SNV
Germline

Chr8:76983893

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371557681

rs_2132044384

4 SubmittersRCV001573354 RCV002568470

NM_000318.3(PEX2):c.666A>G (p.Ser222=)

SNV
Germline

Chr8:76983513

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA461773262

rs_1806901488

2 SubmittersRCV001578655 RCV001578656

NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter)

SNV
Germline

Chr7:92501647

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368176345

rs_1306607552

2 SubmittersRCV001580756 RCV003474010

NM_001351132.2(PEX5):c.687G>T (p.Leu229=)

SNV
Germline

Chr12:7202285

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Conflicting Classifications

CA6426239

rs_751973364

2 SubmittersRCV001726864 RCV005057551

NM_002857.4(PEX19):c.180+1G>T

SNV
Germline

Chr1:160283529

Likely pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

CA343264213

rs_1320716582

1 SubmittersRCV001782602

NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr)

SNV
Germline

Chr22:18079992

Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Single Submitter

CA410265906

rs_2123647622

1 SubmittersRCV001823684

NM_004813.4(PEX16):c.460+5G>A

SNV
Germline

Chr11:45915463

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 8A (Zellweger)

Criteria Provided
Conflicting Classifications

CA913189281

rs_2134695257

2 SubmittersRCV001869831 RCV001824215

NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr6:136845651

Pathogenic/Likely pathogenic

Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata

Criteria Provided
Multiple Submitters
No Conflicts

CA365856801

rs_2115170536

4 SubmittersRCV001825096 RCV002034680 RCV005038348 RCV005606974

NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)

SNV
Germline

Chr6:136846143

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA365857271

rs_1173171051

2 SubmittersRCV002012339

NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)

SNV
Germline

Chr2:61031693

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B

Criteria Provided
Multiple Submitters
No Conflicts

CA346942303

rs_2104803395

2 SubmittersRCV001920585 RCV002285029

NM_002857.4(PEX19):c.161C>T (p.Ser54Leu)

SNV
Germline

Chr1:160283549

Pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA343264398

rs_1657873534

2 SubmittersRCV002034201 RCV005406281

NM_000286.3(PEX12):c.126+1G>A

SNV
Germline

Chr17:35577895

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA8504980

rs_144259891

1 SubmittersRCV001965297

NM_004813.4(PEX16):c.888-2A>C

SNV
Germline

Chr11:45910964

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380224726

rs_2086772786

1 SubmittersRCV002021992

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

SNV
Germline

Chr8:76984088

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

CA179988285

rs_149287302

1 SubmittersRCV001960587

NM_002617.4(PEX10):c.211G>T (p.Glu71Ter)

SNV
Germline

Chr1:2408841

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337989103

rs_1291325133

1 SubmittersRCV001960614

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

SNV
Germline

Chr7:92518994

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA161974656

rs_866144313

3 SubmittersRCV001999185 RCV002486589 RCV003475275

NM_000318.3(PEX2):c.635A>G (p.Asn212Ser)

SNV
Germline

Chr8:76983544

Conflicting classifications of pathogenicity

Inborn genetic diseases
Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Conflicting Classifications

CA4788675

rs_764386648

2 SubmittersRCV003289222 RCV001930629

NM_000287.4(PEX6):c.2579G>C (p.Arg860Pro)

SNV
Germline

Chr6:42965261

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 4B

Criteria Provided
Conflicting Classifications

CA364150869

rs_61753231

2 SubmittersRCV001884410 RCV004813196

NM_004813.4(PEX16):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr11:45914180

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380226817

rs_2134692559

1 SubmittersRCV001921085

NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter)

SNV
Germline

Chr6:42967478

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364153666

rs_375288192

2 SubmittersRCV001932286 RCV003475125

NM_001351132.2(PEX5):c.317-2A>G

SNV
Germline

Chr12:7191567

Likely pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383711833

rs_2135903939

1 SubmittersRCV002014359

NM_002617.4(PEX10):c.727C>T (p.Gln243Ter)

SNV
Germline

Chr1:2406769

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337985253

rs_2100422652

1 SubmittersRCV001946688

NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter)

SNV
Germline

Chr6:42964874

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364150362

rs_2114236416

1 SubmittersRCV001905894

NM_003630.3(PEX3):c.17G>A (p.Trp6Ter)

SNV
Germline

Chr6:143451059

Pathogenic

Condition: not provided
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA365902038

rs_1243154971

2 SubmittersRCV001972702 RCV003479376

NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter)

SNV
Germline

Chr17:35576067

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399137362

rs_1429126106

1 SubmittersRCV001932496

NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr1:145916830

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 14B
PEX11B-related disorder

Criteria Provided
Conflicting Classifications

CA1055574

rs_782365743

3 SubmittersRCV001967592 RCV005603750 RCV003395298

NM_000288.4(PEX7):c.804-2A>C

SNV
Germline

Chr6:136898140

Pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA4017779

rs_774676095

1 SubmittersRCV002006105

NM_002617.4(PEX10):c.747G>A (p.Trp249Ter)

SNV
Germline

Chr1:2406749

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337985106

rs_2100422532

1 SubmittersRCV001935421

NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter)

SNV
Germline

Chr6:42969962

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364156230

rs_2114248288

1 SubmittersRCV001921537

NM_000286.3(PEX12):c.518G>A (p.Trp173Ter)

SNV
Germline

Chr17:35577200

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA399137956

rs_923109489

2 SubmittersRCV001898428 RCV005016764

NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)

SNV
Germline

Chr12:7208533

Pathogenic

Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
Rhizomelic chondrodysplasia punctata type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA6426409

rs_777735499

2 SubmittersRCV002037839 RCV005006310

NM_000288.4(PEX7):c.130+2T>G

SNV
Germline

Chr6:136822797

Pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365855489

rs_2115122957

1 SubmittersRCV002000126

NM_001351132.2(PEX5):c.966+1G>C

SNV
Germline

Chr12:7203552

Likely pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383727513

rs_2136176386

1 SubmittersRCV002000238

NM_000287.4(PEX6):c.1817G>A (p.Arg606Gln)

SNV
Germline

Chr6:42967435

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3811212

rs_780239941

2 SubmittersRCV001964624 RCV002560556

NM_002618.4(PEX13):c.46C>T (p.Arg16Ter)

SNV
Germline

Chr2:61017805

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346936941

rs_1178588746

1 SubmittersRCV001907969

NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter)

SNV
Germline

Chr12:7190496

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383708074

rs_2135879026

1 SubmittersRCV001960744

NM_000287.4(PEX6):c.1234-2A>G

SNV
Germline

Chr6:42969803

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364155970

rs_2114247797

1 SubmittersRCV002009367

NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter)

SNV
Germline

Chr12:7208530

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383732927

rs_1300934931

1 SubmittersRCV001953424

NM_004813.4(PEX16):c.451C>T (p.Gln151Ter)

SNV
Germline

Chr11:45915477

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380228186

rs_1218545995

1 SubmittersRCV001953436

NM_000287.4(PEX6):c.680A>G (p.Gln227Arg)

SNV
Germline

Chr6:42978471

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3811587

rs_757479364

2 SubmittersRCV001913070 RCV004955777

NM_000318.3(PEX2):c.386T>A (p.Leu129Ter)

SNV
Germline

Chr8:76983793

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

CA371557456

rs_1224224276

1 SubmittersRCV001950406

NM_004813.4(PEX16):c.737G>A (p.Trp246Ter)

SNV
Germline

Chr11:45914161

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380226711

rs_2086807269

1 SubmittersRCV001946580

NM_000288.4(PEX7):c.340-1G>T

SNV
Germline

Chr6:136845614

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA4017583

rs_780751870

2 SubmittersRCV002003038

NM_004813.4(PEX16):c.694+1G>A

SNV
Germline

Chr11:45914315

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380226899

rs_2134692847

1 SubmittersRCV002014184

NM_001351132.2(PEX5):c.1561-2A>G

SNV
Germline

Chr12:7209681

Likely pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383737554

rs_2136254229

1 SubmittersRCV002017089

NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter)

SNV
Germline

Chr12:7201782

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA232470857

rs_890363450

1 SubmittersRCV001951290

NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)

SNV
Germline

Chr8:76984022

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA371557972

rs_1224562361

2 SubmittersRCV001941162

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

SNV
Germline

Chr6:42965153

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364150806

rs_2114237186

1 SubmittersRCV002029320

NM_003846.3(PEX11B):c.2T>G (p.Met1Arg)

SNV
Germline

Chr1:145918687

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 14B

Criteria Provided
Conflicting Classifications

CA1055460

rs_782342783

2 SubmittersRCV002047186 RCV005040419

NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter)

SNV
Germline

Chr12:7209696

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383737698

rs_2136254746

1 SubmittersRCV001952086

NM_004813.4(PEX16):c.112+2T>G

SNV
Germline

Chr11:45917698

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380230404

rs_1590798080

1 SubmittersRCV002018533

NM_001127649.3(PEX26):c.667+2T>C

SNV
Germline

Chr22:18083734

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA321288866

rs_267608191

2 SubmittersRCV002018562 RCV002509745

NM_000318.3(PEX2):c.10A>T (p.Arg4Ter)

SNV
Germline

Chr8:76984169

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

CA371558291

rs_1297517393

1 SubmittersRCV001962432

NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr)

SNV
Germline

Chr6:136826387

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365855863

rs_61753240

1 SubmittersRCV001988512

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

SNV
Germline

Chr6:42964862

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3810921

rs_374549180

3 SubmittersRCV002021081 RCV005042690

NM_000287.4(PEX6):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:42979149

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364170153

rs_1554128597

1 SubmittersRCV001886330

NM_000286.3(PEX12):c.342G>A (p.Trp114Ter)

SNV
Germline

Chr17:35577376

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399138337

rs_2142230890

1 SubmittersRCV001918534

NM_002617.4(PEX10):c.1A>T (p.Met1Leu)

SNV
Germline

Chr1:2412502

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337990818

rs_886041314

1 SubmittersRCV001920345

NM_001127649.3(PEX26):c.668-2A>G

SNV
Germline

Chr22:18085110

Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

CA410268451

rs_2123657331

1 SubmittersRCV002012478

NM_002617.4(PEX10):c.621C>T (p.Pro207=)

SNV
Germline

Chr1:2406875

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder, complementation group 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16943086

rs_140107510

2 SubmittersRCV002193471 RCV003491051

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

SNV
Germline

Chr6:42965078

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364150543

rs_267608247

5 SubmittersRCV002244512 RCV003093952 RCV003324006 RCV003223433

NM_002617.4(PEX10):c.827G>C (p.Cys276Ser)

SNV
Germline

Chr1:2406569

Pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Single Submitter

CA337984477

rs_1414973726

1 SubmittersRCV002250185

NM_002617.4(PEX10):c.52G>C (p.Asp18His)

SNV
Germline

Chr1:2412451

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337990582

rs_61750432

2 SubmittersRCV002250186 RCV002295359

NM_003846.3(PEX11B):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:145918688

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 14B

Criteria Provided
Multiple Submitters
No Conflicts

CA29817484

rs_782262926

3 SubmittersRCV002250187

NM_000466.3(PEX1):c.129+1G>A

SNV
Germline

Chr7:92528306

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA368207294

rs_2116298327

1 SubmittersRCV002266283

NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter)

SNV
Germline

Chr12:7201751

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA383721040

rs_1419213790

3 SubmittersRCV002273017 RCV005002815

NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter)

SNV
Germline

Chr6:42965358

Likely pathogenic

Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Single Submitter

CA138222169

rs_267608243

1 SubmittersRCV002277753

NM_000287.4(PEX6):c.929C>T (p.Ser310Leu)

SNV
Germline

Chr6:42974992

Likely pathogenic

Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Single Submitter

CA364160062

rs_2150236110

1 SubmittersRCV002277754

NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr2:61031717

Pathogenic

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA346942460

rs_1680453822

2 SubmittersRCV002283360 RCV003774931

NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)

SNV
Germline

Chr1:2408510

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA538140

rs_749637005

2 SubmittersRCV002306503 RCV003534855

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

SNV
Unknown

Chr7:92517416

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368198079

rs_140990231

1 SubmittersRCV002306633

NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)

SNV
Unknown

Chr1:2410429

Likely pathogenic

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

Criteria Provided
Single Submitter

CA337989459

rs_2522292110

1 SubmittersRCV002306705

NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)

SNV
Unknown

Chr7:92489905

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368162316

rs_2484613763

1 SubmittersRCV002308004

NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)

SNV
Unknown

Chr7:92502073

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368178807

rs_2484662041

1 SubmittersRCV002308078

NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)

SNV
Unknown

Chr7:92522122

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368204730

rs_2484712710

1 SubmittersRCV002308145

NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)

SNV
Unknown

Chr7:92506308

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368185103

rs_2484673578

1 SubmittersRCV002308149

NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)

SNV
Unknown

Chr6:42975031

Likely pathogenic

Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Single Submitter

CA364160336

rs_1435802052

1 SubmittersRCV002309320

NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)

SNV
Unknown

Chr7:92494526

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368168457

rs_2484638196

1 SubmittersRCV002306888

NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)

SNV
Unknown

Chr7:92517856

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368200648

rs_759048090

1 SubmittersRCV002306952

NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)

SNV
Unknown

Chr7:92491412

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368164187

rs_2484621408

1 SubmittersRCV002307331

NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)

SNV
Unknown

Chr7:92517341

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368197478

rs_2484701919

1 SubmittersRCV002310093

NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)

SNV
Germline

Chr7:92503068

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368181269

rs_758268792

2 SubmittersRCV002310100 RCV005032237

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

SNV
Germline

Chr7:92522170

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368204940

rs_1469341456

4 SubmittersRCV002310139 RCV005042801 RCV003475336 RCV003594184

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

SNV
Unknown

Chr7:92506331

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368185387

rs_1792186595

1 SubmittersRCV002310227

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

SNV
Unknown

Chr7:92491399

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368164077

rs_2484621318

1 SubmittersRCV002310229

NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)

SNV
Unknown

Chr7:92511039

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368190395

rs_2484685958

1 SubmittersRCV002310278

NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)

SNV
Unknown

Chr7:92511700

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368191643

rs_2484687812

1 SubmittersRCV002310301

NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)

SNV
Unknown

Chr7:92517799

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368200322

rs_1792868421

1 SubmittersRCV002310464

NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)

SNV
Unknown

Chr7:92506272

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368184726

rs_2484673420

1 SubmittersRCV002310558

NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)

SNV
Unknown

Chr7:92506996

Likely pathogenic

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

Criteria Provided
Single Submitter

CA368187112

rs_2484676110

1 SubmittersRCV002308443

NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)

SNV
Germline

Chr6:42965076

Pathogenic

Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Single Submitter

CA364150537

rs_2481198087

1 SubmittersRCV002468761

NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)

SNV
Germline

Chr22:18079993

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Conflicting Classifications

CA10093293

rs_61752134

3 SubmittersRCV003064643 RCV003475499

NM_000287.4(PEX6):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:42979150

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364170157

rs_1212487109

2 SubmittersRCV003070892 RCV005399072

NM_001351132.2(PEX5):c.754-2A>C

SNV
Germline

Chr12:7202610

Likely pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383723806

rs_1591759567

1 SubmittersRCV003076785

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_002617.4(PEX10):c.749G>A (p.Arg250Lys)

SNV
Germline

Chr1:2406747

Conflicting classifications of pathogenicity

Inborn genetic diseases
Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Conflicting Classifications

CA538050

rs_372509245

2 SubmittersRCV003071575 RCV003081372

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

Criteria Provided
Multiple Submitters
No Conflicts

CA179988274

rs_1011185031

3 SubmittersRCV003087553 RCV005045264

NM_000287.4(PEX6):c.2026G>A (p.Ala676Thr)

SNV
Germline

Chr6:42966593

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
PEX6-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3811141

rs_576399709

3 SubmittersRCV003092848 RCV004550401 RCV004790368

NM_000288.4(PEX7):c.911A>T (p.Asp304Val)

SNV
Germline

Chr6:136913465

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 9B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA365767216

rs_751429361

2 SubmittersRCV002637931 RCV004798023

NM_001127649.3(PEX26):c.91C>T (p.Arg31Trp)

SNV
Germline

Chr22:18078467

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10093220

rs_775656539

2 SubmittersRCV002628720 RCV004961138

NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)

SNV
Germline

Chr6:42969985

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364156314

rs_2481236055

2 SubmittersRCV002510467

NM_001351132.2(PEX5):c.847-2A>G

SNV
Germline

Chr12:7203430

Likely pathogenic

Condition: not provided
Peroxisome biogenesis disorder 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA383726177

rs_2540182543

2 SubmittersRCV003235778 RCV003121401

NM_001351132.2(PEX5):c.753+2T>C

SNV
Germline

Chr12:7202353

Likely pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383723642

rs_1468724704

1 SubmittersRCV003106950

NM_002618.4(PEX13):c.913+1G>T

SNV
Germline

Chr2:61045852

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346948910

rs_1330624821

1 SubmittersRCV002572525

NM_004813.4(PEX16):c.860G>A (p.Arg287His)

SNV
Germline

Chr11:45913846

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA380225820

rs_1355804755

2 SubmittersRCV002625702

NM_004813.4(PEX16):c.829C>T (p.Arg277Trp)

SNV
Germline

Chr11:45913877

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 8B

Criteria Provided
Conflicting Classifications

CA16044063

rs_1381800210

2 SubmittersRCV002662962 RCV003989780

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

SNV
Germline

Chr1:2406719

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337984929

rs_869312935

2 SubmittersRCV002706604 RCV003475416

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

SNV
Germline

Chr7:92511688

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368191489

rs_2484687761

3 SubmittersRCV004571247 RCV005034411 RCV002794871

NM_004813.4(PEX16):c.888-1G>C

SNV
Germline

Chr11:45910963

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA5959770

rs_778478085

1 SubmittersRCV002775019

NM_002617.4(PEX10):c.113-1G>C

SNV
Germline

Chr1:2410452

Likely pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337989553

rs_867305222

1 SubmittersRCV002796931

NM_001351132.2(PEX5):c.552-10C>T

SNV
Germline

Chr12:7201741

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA383720932

rs_2540124973

2 SubmittersRCV002824338 RCV003134506

NM_000287.4(PEX6):c.1479+1G>A

SNV
Germline

Chr6:42968873

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364155130

rs_2481228543

1 SubmittersRCV002825431

NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)

SNV
Germline

Chr6:42965322

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364151080

rs_2481200159

1 SubmittersRCV002832807

NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter)

SNV
Germline

Chr12:7199062

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383717730

rs_2540040738

1 SubmittersRCV002812136

NM_004813.4(PEX16):c.535C>T (p.Gln179Ter)

SNV
Germline

Chr11:45914610

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380227242

rs_1447178623

1 SubmittersRCV002851073

NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)

SNV
Germline

Chr17:35577339

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399138258

rs_2509170081

1 SubmittersRCV002838593

NM_000287.4(PEX6):c.2363-2A>G

SNV
Germline

Chr6:42965791

Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364151755

rs_1769772582

2 SubmittersRCV002838233 RCV003475432

NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr6:42978496

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364162977

rs_2481277519

1 SubmittersRCV002880725

NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)

SNV
Germline

Chr2:61031959

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346944140

rs_2467508461

1 SubmittersRCV002898766

NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)

SNV
Germline

Chr6:42978836

Pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3811636

rs_745382616

2 SubmittersRCV002876925 RCV003475446

NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr12:7190453

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383707575

rs_2539799070

1 SubmittersRCV002877141

NM_004813.4(PEX16):c.865C>G (p.Pro289Ala)

SNV
Germline

Chr11:45913841

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5959795

rs_780955218

2 SubmittersRCV002913432 RCV003229925

NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)

SNV
Germline

Chr6:42974928

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
PEX6-related disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364159661

rs_896144215

3 SubmittersRCV003007712 RCV004725450 RCV003475460

NM_000287.4(PEX6):c.1046+1G>T

SNV
Germline

Chr6:42974874

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364159321

rs_1554127968

1 SubmittersRCV002994730

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

SNV
Germline

Chr7:92504753

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368182924

rs_2484668233

2 SubmittersRCV003010320 RCV005034580

NM_002617.4(PEX10):c.601-61G>A

SNV
Germline

Chr1:2406956

Likely pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337986042

rs_2522261938

1 SubmittersRCV003016545

NM_000287.4(PEX6):c.2472-1G>A

SNV
Germline

Chr6:42965369

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364151249

rs_2481200515

1 SubmittersRCV003014547

NM_002857.4(PEX19):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr1:160282107

Pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

CA343260179

rs_1480182464

1 SubmittersRCV003011548

NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)

SNV
Germline

Chr17:35577175

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA8504892

rs_192653658

2 SubmittersRCV003046219

NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)

SNV
Germline

Chr6:42978459

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364162707

rs_2481277081

1 SubmittersRCV003029266

NM_000287.4(PEX6):c.1367+2T>C

SNV
Germline

Chr6:42969666

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364155524

rs_2481232940

1 SubmittersRCV003017460

NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)

SNV
Germline

Chr6:42978405

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364162362

rs_1183167782

1 SubmittersRCV003034649

NM_003846.3(PEX11B):c.338G>A (p.Arg113His)

SNV
Germline

Chr1:145916853

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 14B
Radial aplasia-thrombocytopenia syndrome

Criteria Provided
Conflicting Classifications

CA342123175

rs_1553753971

2 SubmittersRCV003030091 RCV004731311

NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)

SNV
Germline

Chr6:42967462

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364153613

rs_2481217571

1 SubmittersRCV003037955

NM_002618.4(PEX13):c.93-1G>A

SNV
Germline

Chr2:61031418

Likely pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346940814

rs_1168492424

1 SubmittersRCV003024285

NM_001127649.3(PEX26):c.757A>T (p.Lys253Ter)

SNV
Germline

Chr22:18085201

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

CA410268642

rs_2517673461

1 SubmittersRCV003032845

NM_003846.3(PEX11B):c.172+1G>A

SNV
Germline

Chr1:145917700

Conflicting classifications of pathogenicity

Condition: not provided
Peroxisome biogenesis disorder 14B

Criteria Provided
Conflicting Classifications

CA29817054

rs_1036892634

3 SubmittersRCV003024821 RCV005034590

NM_002857.4(PEX19):c.70+2T>G

SNV
Germline

Chr1:160285053

Likely pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

CA343265739

rs_113227300

1 SubmittersRCV003047131

NM_004813.4(PEX16):c.312G>A (p.Trp104Ter)

SNV
Germline

Chr11:45915750

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380228510

rs_2494905042

1 SubmittersRCV003057397

NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr8:76983704

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

CA371557260

rs_2487451984

1 SubmittersRCV003046683

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_003630.3(PEX3):c.685G>T (p.Gly229Ter)

SNV
Germline

Chr6:143472266

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA365912450

rs_2537199055

1 SubmittersRCV003155779

NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)

SNV
Unknown

Chr7:92518031

Likely pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

Criteria Provided
Single Submitter

CA368201817

rs_2116247732

1 SubmittersRCV003223550

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

SNV
Germline

Chr7:92496778

Pathogenic

Peroxisome biogenesis disorder 1A (Zellweger)

Criteria Provided
Single Submitter

CA368171305

rs_1791673946

1 SubmittersRCV003227552

NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)

SNV
Germline

Chr11:45914331

Likely pathogenic

Peroxisome biogenesis disorder 8B

Criteria Provided
Single Submitter

CA380226926

rs_1064794320

1 SubmittersRCV003229529

NM_003630.3(PEX3):c.331+1G>C

SNV
Germline

Chr6:143468166

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA365909203

rs_2537193194

1 SubmittersRCV003230991

NM_001351132.2(PEX5):c.147+4A>G

SNV
Unknown

Chr12:7190528

Likely pathogenic

Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)

Criteria Provided
Single Submitter

CA6426010

rs_749342175

1 SubmittersRCV003333369 RCV003333367 RCV003333368

NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)

SNV
Germline

Chr1:145917749

Likely pathogenic

Peroxisome biogenesis disorder 14B

Criteria Provided
Single Submitter

CA342124215

rs_1553754148

1 SubmittersRCV003340829

NM_003630.3(PEX3):c.144C>A (p.Tyr48Ter)

SNV
Germline

Chr6:143459155

Likely pathogenic

Peroxisome biogenesis disorder 10A (Zellweger)

Criteria Provided
Single Submitter

CA365905172

rs_150841396

1 SubmittersRCV003388694

NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)

SNV
Unknown

Chr1:2408852

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Single Submitter

CA337989135

rs_2522280632

1 SubmittersRCV003476786

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

SNV
Unknown

Chr1:2406620

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Single Submitter

CA337984860

rs_2522257720

1 SubmittersRCV003476790

NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)

SNV
Unknown

Chr1:2408452

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Single Submitter

CA337986791

rs_1169822437

1 SubmittersRCV003476792

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

Criteria Provided
Multiple Submitters
No Conflicts

CA538051

rs_571178917

2 SubmittersRCV003476794 RCV003779067

NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)

SNV
Germline

Chr17:35577578

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA399138777

rs_2509170684

2 SubmittersRCV003476800

NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)

SNV
Germline

Chr8:76983996

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA371557915

rs_1806926984

2 SubmittersRCV003476806

NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)

SNV
Unknown

Chr22:18083533

Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Single Submitter

CA410267582

rs_1926706805

1 SubmittersRCV003476816

NM_001127649.3(PEX26):c.814+1G>A

SNV
Unknown

Chr22:18085259

Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Single Submitter

CA410268846

rs_2517673596

1 SubmittersRCV003476818

NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)

SNV
Unknown

Chr22:18083459

Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Single Submitter

CA410267161

rs_2517670768

1 SubmittersRCV003476820

NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)

SNV
Germline

Chr22:18083501

Pathogenic

Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA410267410

rs_2517670893

2 SubmittersRCV003779069 RCV003476821

NM_001127649.3(PEX26):c.230+1G>A

SNV
Unknown

Chr22:18078607

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Single Submitter

CA410265410

rs_267608190

1 SubmittersRCV003476822

NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)

SNV
Unknown

Chr22:18079973

Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Single Submitter

CA410265801

rs_1926485817

1 SubmittersRCV003476824

NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)

SNV
Germline

Chr6:42974885

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder
Heimler syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364159382

rs_2481257723

2 SubmittersRCV003645963 RCV003476842

NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)

SNV
Unknown

Chr6:136845636

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365856738

rs_1774582485

1 SubmittersRCV003476858

NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)

SNV
Germline

Chr6:136866649

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA365762844

rs_753283873

2 SubmittersRCV003476859

NM_000288.4(PEX7):c.634-2A>G

SNV
Unknown

Chr6:136869888

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365763920

rs_2548095304

1 SubmittersRCV003476861

NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)

SNV
Unknown

Chr6:136826354

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365855789

rs_2548072047

1 SubmittersRCV003476862

NM_000288.4(PEX7):c.803+1G>A

SNV
Germline

Chr6:136872254

Likely pathogenic

Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA365764500

rs_2548096639

2 SubmittersRCV003476865 RCV005036817

NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)

SNV
Unknown

Chr6:136826414

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365855920

rs_1774193359

1 SubmittersRCV003476867

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

SNV
Germline

Chr7:92489369

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368159802

rs_1393663701

3 SubmittersRCV003476744 RCV003759875 RCV005047599

NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)

SNV
Unknown

Chr1:2406515

Pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Single Submitter

CA537990

rs_61752096

1 SubmittersRCV003476783

NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)

SNV
Unknown

Chr1:2410439

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Single Submitter

CA337989505

rs_2522292254

1 SubmittersRCV003476785

NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)

SNV
Germline

Chr7:92491423

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA161953128

rs_1042891094

1 SubmittersRCV003479817

NM_001351132.2(PEX5):c.846+1G>A

SNV
Germline

Chr12:7202705

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA383724915

rs_2540160367

1 SubmittersRCV003486488

NM_003846.3(PEX11B):c.11G>A (p.Trp4Ter)

SNV
Germline

Chr1:145918678

Likely pathogenic

Peroxisome biogenesis disorder 14B

No Assertion Criteria Provided

1 SubmittersRCV004673904

NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)

SNV
Germline

Chr6:42969759

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364155820

rs_1381041583

1 SubmittersRCV003530454

NM_002617.4(PEX10):c.198C>G (p.Tyr66Ter)

SNV
Germline

Chr1:2408854

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337989142

rs_2522280663

1 SubmittersRCV003537532

NM_004813.4(PEX16):c.226-2A>C

SNV
Germline

Chr11:45915838

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380228969

rs_2494905864

1 SubmittersRCV003530653

NM_000288.4(PEX7):c.747+1G>A

SNV
Germline

Chr6:136870004

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA148200986

rs_267608256

1 SubmittersRCV003536403

NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr12:7202313

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383722987

rs_1425522784

1 SubmittersRCV003499021

NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)

SNV
Germline

Chr2:61032002

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)
PEX13-related disorder

Criteria Provided
Single Submitter

CA1673331

rs_146554084

2 SubmittersRCV003539023 RCV004554253

NM_004813.4(PEX16):c.311G>A (p.Trp104Ter)

SNV
Germline

Chr11:45915751

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA5960020

rs_765872761

1 SubmittersRCV003530837

NM_002618.4(PEX13):c.744C>G (p.Tyr248Ter)

SNV
Germline

Chr2:61032070

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346944752

rs_759431249

1 SubmittersRCV003537983

NM_004813.4(PEX16):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr11:45914415

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA5959911

rs_770726448

1 SubmittersRCV003530784

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

SNV
Germline

Chr1:2412500

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337990813

rs_1393899190

1 SubmittersRCV003535141

NM_000287.4(PEX6):c.2095-2A>G

SNV
Germline

Chr6:42966449

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA138223278

rs_267608234

1 SubmittersRCV003530931

NM_000287.4(PEX6):c.883-2A>G

SNV
Germline

Chr6:42975040

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA138232106

rs_267608208

1 SubmittersRCV003530932

NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)

SNV
Germline

Chr8:76983677

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Multiple Submitters
No Conflicts

CA371557204

rs_2487451701

2 SubmittersRCV003535181

NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)

SNV
Germline

Chr17:35576087

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399137413

rs_2509168202

1 SubmittersRCV003535211

NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)

SNV
Germline

Chr6:42966835

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364153214

rs_2481212042

1 SubmittersRCV003531056

NM_002618.4(PEX13):c.92+1G>A

SNV
Germline

Chr2:61017852

Likely pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346937409

rs_371266088

1 SubmittersRCV003536652

NM_002617.4(PEX10):c.1A>C (p.Met1Leu)

SNV
Germline

Chr1:2412502

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337990825

rs_886041314

1 SubmittersRCV003536862

NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)

SNV
Germline

Chr1:10536237

Pathogenic

Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Single Submitter

CA583714

rs_370090221

1 SubmittersRCV003593762

NM_000287.4(PEX6):c.2471+1G>A

SNV
Germline

Chr6:42965680

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364151277

rs_2481202424

1 SubmittersRCV003531165

NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter)

SNV
Germline

Chr12:7201754

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383721114

rs_2540125931

1 SubmittersRCV003499386

NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)

SNV
Germline

Chr6:42965742

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364151525

rs_2481203023

1 SubmittersRCV003529883

NM_004813.4(PEX16):c.729G>A (p.Trp243Ter)

SNV
Germline

Chr11:45914169

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380226751

rs_2494894653

1 SubmittersRCV003531377

NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)

SNV
Germline

Chr8:76983861

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

CA371557606

rs_2487452658

1 SubmittersRCV003538340

NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)

SNV
Germline

Chr2:61031922

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346943993

rs_2467508404

1 SubmittersRCV003538040

NM_004813.4(PEX16):c.149-2A>G

SNV
Germline

Chr11:45916305

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380229280

rs_2494908941

1 SubmittersRCV003529837

NM_000287.4(PEX6):c.217C>T (p.Gln73Ter)

SNV
Germline

Chr6:42978934

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364168029

rs_2481282209

1 SubmittersRCV003529843

NM_002617.4(PEX10):c.622G>T (p.Gly208Ter)

SNV
Germline

Chr1:2406874

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337985708

rs_138489241

1 SubmittersRCV003649529

NM_001351132.2(PEX5):c.670G>T (p.Glu224Ter)

SNV
Germline

Chr12:7202268

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383722421

rs_767347186

1 SubmittersRCV003603204

NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)

SNV
Germline

Chr1:2406497

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337984078

rs_1643006514

1 SubmittersRCV003649501

NM_001351132.2(PEX5):c.967-1G>A

SNV
Germline

Chr12:7207658

Likely pathogenic

Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
Rhizomelic chondrodysplasia punctata type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA383729672

rs_2136226194

2 SubmittersRCV003603416 RCV005013082

NM_002857.4(PEX19):c.594+1G>C

SNV
Germline

Chr1:160282038

Likely pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

CA343259663

rs_2525310842

1 SubmittersRCV003649681

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

SNV
Germline

Chr7:92517564

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA368198818

rs_2484702728

2 SubmittersRCV003760871 RCV005047742

NM_000288.4(PEX7):c.818C>G (p.Ser273Ter)

SNV
Germline

Chr6:136898156

Pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365766558

rs_1306724935

1 SubmittersRCV003651128

NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)

SNV
Germline

Chr6:42967502

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364153755

rs_2481217985

1 SubmittersRCV003646315

NM_000288.4(PEX7):c.747+2T>A

SNV
Germline

Chr6:136870005

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

CA365764165

rs_2548095423

1 SubmittersRCV003651109

NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)

SNV
Germline

Chr17:35577149

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)
PEX12-related disorder

Criteria Provided
Single Submitter

CA399137843

rs_2509169676

2 SubmittersRCV003651174 RCV004554281

NM_001351132.2(PEX5):c.753+1G>A

SNV
Germline

Chr12:7202352

Likely pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383723616

rs_2540148926

1 SubmittersRCV003604482

NM_002618.4(PEX13):c.801G>A (p.Trp267Ter)

SNV
Germline

Chr2:61045739

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

CA346948096

rs_2467527058

1 SubmittersRCV003651251

NM_000287.4(PEX6):c.1A>T (p.Met1Leu)

SNV
Germline

Chr6:42979150

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364170155

rs_1212487109

2 SubmittersRCV003646476 RCV005047756

NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)

SNV
Germline

Chr6:42979064

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364169296

rs_2481283458

1 SubmittersRCV003646506

NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)

SNV
Germline

Chr17:35577263

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399138099

rs_2509169869

1 SubmittersRCV003651238

NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter)

SNV
Germline

Chr12:7209122

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383735532

rs_2540296604

1 SubmittersRCV003604474

NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)

SNV
Germline

Chr11:45913889

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380226091

rs_2494892546

1 SubmittersRCV003646551

NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)

SNV
Germline

Chr6:42978480

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364162865

rs_2481277352

1 SubmittersRCV003646537

NM_000287.4(PEX6):c.1884+1G>A

SNV
Germline

Chr6:42967367

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364153340

rs_2481216669

1 SubmittersRCV003646744

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

SNV
Germline

Chr6:42965153

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364150809

rs_2114237186

1 SubmittersRCV003646685

NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr11:45915824

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380228888

rs_1244471687

1 SubmittersRCV003646682

NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)

SNV
Germline

Chr8:76983894

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

CA371557684

rs_202204148

1 SubmittersRCV003653837

NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)

SNV
Germline

Chr1:160282056

Pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

CA343259774

rs_2525310933

1 SubmittersRCV003653746

NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)

SNV
Germline

Chr17:35575972

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399137161

rs_768427035

1 SubmittersRCV003653826

NM_000287.4(PEX6):c.1885-1G>A

SNV
Germline

Chr6:42966859

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364153298

rs_1227840515

2 SubmittersRCV003646713

NM_001351132.2(PEX5):c.147+2T>G

SNV
Germline

Chr12:7190526

Likely pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

CA383708354

rs_2539802789

1 SubmittersRCV003602710

NM_002617.4(PEX10):c.134G>A (p.Trp45Ter)

SNV
Germline

Chr1:2410430

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

CA337989465

rs_2522292124

1 SubmittersRCV003650103

NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)

SNV
Germline

Chr22:18079899

Conflicting classifications of pathogenicity

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
not specified

Criteria Provided
Conflicting Classifications

CA410265613

rs_2517666052

2 SubmittersRCV003783750 RCV005063166

NM_001127649.3(PEX26):c.297G>A (p.Trp99Ter)

SNV
Germline

Chr22:18079940

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

CA410265696

rs_2517666120

1 SubmittersRCV003807723

NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr22:18079941

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

CA321285437

rs_745763987

1 SubmittersRCV003797440

NM_001127649.3(PEX26):c.468T>G (p.Tyr156Ter)

SNV
Germline

Chr22:18083533

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

CA410267583

rs_1926706805

1 SubmittersRCV003800446

NM_001127649.3(PEX26):c.372-2A>G

SNV
Germline

Chr22:18083435

Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

CA410267005

rs_2517670720

1 SubmittersRCV003804855

NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)

SNV
Germline

Chr6:42968474

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364154589

rs_2481225669

1 SubmittersRCV003814308

NM_000286.3(PEX12):c.126+1G>C

SNV
Germline

Chr17:35577895

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399138816

rs_144259891

1 SubmittersRCV003828630

NM_004565.3(PEX14):c.298+1G>C

SNV
Germline

Chr1:10599367

Likely pathogenic

Peroxisome biogenesis disorder, complementation group K

Criteria Provided
Single Submitter

CA338690561

rs_1391484758

1 SubmittersRCV003823950

NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)

SNV
Germline

Chr12:7209700

Pathogenic/Likely pathogenic

Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA383737743

rs_61752138

3 SubmittersRCV003839293 RCV004587570 RCV005013232

NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)

SNV
Germline

Chr6:42965256

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA364150853

rs_2481199616

1 SubmittersRCV003829623

NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)

SNV
Germline

Chr6:42969772

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA138227708

rs_897158533

1 SubmittersRCV003824599

NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)

SNV
Germline

Chr11:45914633

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380227327

rs_2086814554

1 SubmittersRCV003859811

NM_000286.3(PEX12):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr17:35577946

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

CA399138926

rs_2509171496

1 SubmittersRCV003859839

NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)

SNV
Germline

Chr11:45914184

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA380226842

rs_2494894758

1 SubmittersRCV003860307

NM_004813.4(PEX16):c.359+1G>A

SNV
Germline

Chr11:45915702

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

CA5960013

rs_530880623

1 SubmittersRCV003873896

NM_000287.4(PEX6):c.290T>G (p.Val97Gly)

SNV
Germline

Chr6:42978861

Pathogenic

Peroxisome biogenesis disorder 4B

Criteria Provided
Single Submitter

CA364167352

rs_2481281479

1 SubmittersRCV003989996

NM_003630.3(PEX3):c.74G>T (p.Gly25Val)

SNV
Germline

Chr6:143459085

Likely pathogenic

Peroxisome biogenesis disorder 10A (Zellweger)

Criteria Provided
Single Submitter

CA365904661

rs_1411756701

1 SubmittersRCV003990120

NM_000287.4(PEX6):c.1262G>A (p.Trp421Ter)

SNV
Germline

Chr6:42969773

Likely pathogenic

Peroxisome biogenesis disorder 4A (Zellweger)

Criteria Provided
Single Submitter

rs_1769993888

1 SubmittersRCV004576160

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2522256455

2 SubmittersRCV004574499 RCV005100917

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

SNV
Unknown

Chr1:2405835

Likely pathogenic

Peroxisome biogenesis disorder 6A (Zellweger)

Criteria Provided
Single Submitter

rs_752506584

1 SubmittersRCV004574500

NM_000318.3(PEX2):c.640C>T (p.Gln214Ter)

SNV
Unknown

Chr8:76983539

Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

rs_2487451078

1 SubmittersRCV004574505

NM_000318.3(PEX2):c.732C>A (p.Cys244Ter)

SNV
Unknown

Chr8:76983447

Likely pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

rs_142121434

1 SubmittersRCV004574507

NM_000288.4(PEX7):c.612T>A (p.Cys204Ter)

SNV
Unknown

Chr6:136866712

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

rs_1775078845

1 SubmittersRCV004574520

NM_000288.4(PEX7):c.418-2A>G

SNV
Unknown

Chr6:136846071

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

rs_2548082631

1 SubmittersRCV004574522

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

SNV
Germline

Chr1:2412500

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690761 RCV005017208

NM_000288.4(PEX7):c.283T>G (p.Trp95Gly)

SNV
Germline

Chr6:136826413

Pathogenic

Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004689492 RCV005038781

NM_002617.4(PEX10):c.194-1G>A

SNV
Germline

Chr1:2408859

Likely pathogenic

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

No Assertion Criteria Provided

1 SubmittersRCV004776488

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

SNV
Germline

Chr1:2408860

Likely pathogenic

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

No Assertion Criteria Provided

2 SubmittersRCV005610732 RCV004776489

NM_002617.4(PEX10):c.209G>A (p.Gly70Glu)

SNV
Germline

Chr1:2408843

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004797573

NM_001127649.3(PEX26):c.449A>T (p.Asn150Ile)

SNV
Germline

Chr22:18083514

Likely pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Single Submitter

1 SubmittersRCV004821013

NM_001351132.2(PEX5):c.1296C>G (p.Tyr432Ter)

SNV
Germline

Chr12:7208571

Likely pathogenic

Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005011579

NM_000286.3(PEX12):c.140C>A (p.Ser47Ter)

SNV
Germline

Chr17:35577578

Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

1 SubmittersRCV005010203

NM_000286.3(PEX12):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:35578021

Likely pathogenic

Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

1 SubmittersRCV005010205

NM_002618.4(PEX13):c.35G>A (p.Trp12Ter)

SNV
Germline

Chr2:61017794

Likely pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B

Criteria Provided
Single Submitter

1 SubmittersRCV005032371

NM_002618.4(PEX13):c.744C>A (p.Tyr248Ter)

SNV
Germline

Chr2:61032070

Likely pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B

Criteria Provided
Single Submitter

1 SubmittersRCV005026670

NM_000318.3(PEX2):c.570C>A (p.Tyr190Ter)

SNV
Germline

Chr8:76983609

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005041420

NM_000287.4(PEX6):c.2301-1G>T

SNV
Germline

Chr6:42966106

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039763

NM_000287.4(PEX6):c.1961+1G>A

SNV
Germline

Chr6:42966781

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039765

NM_000287.4(PEX6):c.2T>A (p.Met1Lys)

SNV
Germline

Chr6:42979149

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039771

NM_000288.4(PEX7):c.398G>A (p.Trp133Ter)

SNV
Germline

Chr6:136845673

Likely pathogenic

Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005037977

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

SNV
Germline

Chr7:92504730

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005035933

NM_000466.3(PEX1):c.1769T>G (p.Leu590Arg)

SNV
Germline

Chr7:92507028

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005048101

NM_000466.3(PEX1):c.1239+2T>A

SNV
Germline

Chr7:92517274

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005035936

NM_000466.3(PEX1):c.274-2A>T

SNV
Germline

Chr7:92519080

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005048106

NM_000287.4(PEX6):c.3G>T (p.Met1Ile)

SNV
Germline

Chr6:42979148

Pathogenic

Peroxisome biogenesis disorder 4B

Criteria Provided
Single Submitter

1 SubmittersRCV005053554

NM_000288.4(PEX7):c.678G>A (p.Trp226Ter)

SNV
Germline

Chr6:136869934

Pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

1 SubmittersRCV005076727

NM_001351132.2(PEX5):c.982G>T (p.Glu328Ter)

SNV
Germline

Chr12:7207674

Pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005123104

NM_000286.3(PEX12):c.808C>T (p.Gln270Ter)

SNV
Germline

Chr17:35576054

Pathogenic

Peroxisome biogenesis disorder 3A (Zellweger)

Criteria Provided
Single Submitter

1 SubmittersRCV005117717

NM_000318.3(PEX2):c.37A>T (p.Arg13Ter)

SNV
Germline

Chr8:76984142

Pathogenic

Peroxisome biogenesis disorder 5A (Zellweger)

Criteria Provided
Single Submitter

1 SubmittersRCV005117725

NM_000287.4(PEX6):c.1367+2T>A

SNV
Germline

Chr6:42969666

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005121519

NM_002618.4(PEX13):c.294T>G (p.Tyr98Ter)

SNV
Germline

Chr2:61031620

Pathogenic

Peroxisome biogenesis disorder 11A (Zellweger)

Criteria Provided
Single Submitter

1 SubmittersRCV005130539

NM_000288.4(PEX7):c.803+1G>C

SNV
Germline

Chr6:136872254

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

1 SubmittersRCV005116899

NM_002617.4(PEX10):c.55G>T (p.Glu19Ter)

SNV
Germline

Chr1:2412448

Pathogenic

Peroxisome biogenesis disorder, complementation group 7

Criteria Provided
Single Submitter

1 SubmittersRCV005126574

NM_000287.4(PEX6):c.704C>A (p.Ser235Ter)

SNV
Germline

Chr6:42978447

Pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005126639

NM_000288.4(PEX7):c.339+1G>A

SNV
Germline

Chr6:136826470

Likely pathogenic

Peroxisome biogenesis disorder 9B

Criteria Provided
Single Submitter

1 SubmittersRCV005142986

NM_002857.4(PEX19):c.181-1G>A

SNV
Germline

Chr1:160283110

Likely pathogenic

Peroxisome biogenesis disorder 12A (Zellweger)

Criteria Provided
Single Submitter

1 SubmittersRCV005142437

NM_001351132.2(PEX5):c.148-2A>T

SNV
Germline

Chr12:7190886

Likely pathogenic

Peroxisome biogenesis disorder 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005170351

NM_001127649.3(PEX26):c.3G>A (p.Met1Ile)

SNV
Germline

Chr22:18078379

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

1 SubmittersRCV005223646

NM_001127649.3(PEX26):c.371+1G>T

SNV
Germline

Chr22:18080015

Likely pathogenic

Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 7A (Zellweger)

Criteria Provided
Single Submitter

1 SubmittersRCV005218950

NM_001127649.3(PEX26):c.214G>T (p.Glu72Ter)

SNV
Germline

Chr22:18078590

Pathogenic

Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B

Criteria Provided
Single Submitter

1 SubmittersRCV005212445

NM_001127649.3(PEX26):c.131T>C (p.Leu44Pro)

SNV
Germline

Chr22:18078507

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005236914

NM_001351132.2(PEX5):c.1799C>G (p.Ser600Trp)

SNV
Germline

Chr12:7210102

Likely pathogenic

Peroxisome biogenesis disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005409267