Pex12 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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539 records found for search term Pex12

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8560094	CV22810	insertion	PEX12, 1-BP INS, 744T	Peroxisome biogenesis disorder 3A [RCV000008213]	pathogenic				Human		name
8560093	CV22809	insertion	PEX12, 4-BP INS, 733GCCT	Peroxisome biogenesis disorder 3A [RCV000008212]	pathogenic				Human		name
8560095	CV22811	deletion	PEX12, 4-BP DEL, 684TAGT	Peroxisome biogenesis disorder 3A [RCV000008214]	pathogenic				Human		name
405265774	CV3220885	single nucleotide variant	NM_000286.3(PEX12):c.-5A>G	PEX12-related disorder [RCV004554383]	likely benign	17	35578026	35578026	Human		name , trait , alternate_id
9693183	CV177933	single nucleotide variant	NM_000286.3(PEX12):c.-26G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002516088]\|Peroxisome biogenesis disorder type 3B [RCV000666199]\|not provided [RCV000153677]	uncertain significance	17	35578047	35578047	Human	2	name
28901118	CV877269	single nucleotide variant	NM_000286.3(PEX12):c.*39G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124642]	uncertain significance	17	35575743	35575743	Human	1	name
28901121	CV877270	single nucleotide variant	NM_000286.3(PEX12):c.*38C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124643]	uncertain significance	17	35575744	35575744	Human	1	name
11664108	CV328126	single nucleotide variant	NM_000286.3(PEX12):c.*474A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000402687]	uncertain significance	17	35575308	35575308	Human	1	name
11652706	CV328138	single nucleotide variant	NM_000286.3(PEX12):c.*433T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000306734]	uncertain significance	17	35575349	35575349	Human	1	name
11622704	CV328140	single nucleotide variant	NM_000286.3(PEX12):c.*380G>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000363712]	uncertain significance	17	35575402	35575402	Human	1	name
11657736	CV328143	single nucleotide variant	NM_000286.3(PEX12):c.-340G>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000343840]	uncertain significance	17	35578361	35578361	Human	1	name
11662311	CV337985	single nucleotide variant	NM_000286.3(PEX12):c.*922T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000385038]	uncertain significance	17	35574860	35574860	Human	1	name
11661640	CV337986	single nucleotide variant	NM_000286.3(PEX12):c.*778G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000378599]	uncertain significance	17	35575004	35575004	Human	1	name
11664241	CV337990	single nucleotide variant	NM_000286.3(PEX12):c.*532A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000404041]	uncertain significance	17	35575250	35575250	Human	1	name
11621631	CV337995	single nucleotide variant	NM_000286.3(PEX12):c.*517A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000350857]\|not provided [RCV004709588]	benign	17	35575265	35575265	Human	11	name
11621631	CV337995	single nucleotide variant	NM_000286.3(PEX12):c.*517A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000350857]\|not provided [RCV004709588]	benign	17	35575265	35575266	Human	11	name
11618092	CV337999	single nucleotide variant	NM_000286.3(PEX12):c.*297T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000310307]	benign\|likely benign	17	35575485	35575485	Human	1	name
11622366	CV338002	single nucleotide variant	NM_000286.3(PEX12):c.*166C>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000359262]\|not provided [RCV001718674]	benign\|likely benign	17	35575616	35575616	Human	1	name
11662600	CV338014	single nucleotide variant	NM_000286.3(PEX12):c.-145C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000387761]	uncertain significance	17	35578166	35578166	Human	1	name
11616586	CV338015	single nucleotide variant	NM_000286.3(PEX12):c.-147C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000295884]	uncertain significance	17	35578168	35578168	Human	1	name
11619093	CV344172	single nucleotide variant	NM_000286.3(PEX12):c.*836G>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000321572]\|not provided [RCV004709587]	benign	17	35574946	35574946	Human	1	name
11620203	CV344181	single nucleotide variant	NM_000286.3(PEX12):c.*636T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000334272]	benign\|likely benign	17	35575146	35575146	Human	1	name
11621536	CV344184	single nucleotide variant	NM_000286.3(PEX12):c.-138T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000349593]	uncertain significance	17	35578159	35578159	Human	1	name
11664425	CV344193	single nucleotide variant	NM_000286.3(PEX12):c.-405C>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000405680]	uncertain significance	17	35578426	35578426	Human	1	name
11617931	CV344194	single nucleotide variant	NM_000286.3(PEX12):c.-427G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000308785]	uncertain significance	17	35578448	35578448	Human	1	name
11622498	CV344197	single nucleotide variant	NM_000286.3(PEX12):c.-534C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000360828]\|not provided [RCV001683292]	benign\|likely benign	17	35578555	35578555	Human	1	name
11627328	CV345581	single nucleotide variant	NM_000286.3(PEX12):c.*569T>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000280569]	uncertain significance	17	35575213	35575213	Human	1	name
11653650	CV345583	single nucleotide variant	NM_000286.3(PEX12):c.*519A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000312481]	uncertain significance	17	35575263	35575263	Human	1	name
11646537	CV345586	single nucleotide variant	NM_000286.3(PEX12):c.*335T>C	Peroxisome biogenesis disorder 1A (Zellweger) [RCV000271524]	uncertain significance	17	35575447	35575447	Human	1	name
11650344	CV345588	single nucleotide variant	NM_000286.3(PEX12):c.-108A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000292518]	uncertain significance	17	35578129	35578129	Human	1	name
11630322	CV345589	single nucleotide variant	NM_000286.3(PEX12):c.-428T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000347251]\|not provided [RCV001653570]	benign	17	35578449	35578449	Human	1	name
11632290	CV345592	single nucleotide variant	NM_000286.3(PEX12):c.-434A>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000404260]	uncertain significance	17	35578455	35578455	Human	1	name
11628497	CV345593	single nucleotide variant	NM_000286.3(PEX12):c.-495C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000303670]	uncertain significance	17	35578516	35578516	Human	1	name
28903268	CV877261	single nucleotide variant	NM_000286.3(PEX12):c.*923G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001125568]	uncertain significance	17	35574859	35574859	Human	1	name
28903272	CV877262	single nucleotide variant	NM_000286.3(PEX12):c.*783A>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001125569]	uncertain significance	17	35574999	35574999	Human	1	name
28907550	CV877263	single nucleotide variant	NM_000286.3(PEX12):c.*781T>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127659]	benign	17	35575001	35575001	Human	1	name
28907552	CV877264	single nucleotide variant	NM_000286.3(PEX12):c.*708G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127660]	uncertain significance	17	35575074	35575074	Human	1	name
28907553	CV877265	single nucleotide variant	NM_000286.3(PEX12):c.*520A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127661]	uncertain significance	17	35575262	35575262	Human	1	name
28898396	CV877266	single nucleotide variant	NM_000286.3(PEX12):c.*509T>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001123563]	likely benign	17	35575273	35575273	Human	1	name
28898400	CV877267	single nucleotide variant	NM_000286.3(PEX12):c.*411A>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001123564]	uncertain significance	17	35575371	35575371	Human	1	name
28901115	CV877268	single nucleotide variant	NM_000286.3(PEX12):c.*109A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124641]	uncertain significance	17	35575673	35575673	Human	1	name
28907700	CV877273	single nucleotide variant	NM_000286.3(PEX12):c.-358G>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127749]	uncertain significance	17	35578379	35578379	Human	1	name
28907703	CV877274	single nucleotide variant	NM_000286.3(PEX12):c.-360G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127750]	uncertain significance	17	35578381	35578381	Human	1	name
151716435	CV1345970	single nucleotide variant	NM_000286.3(PEX12):c.126+1G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001965297]	pathogenic	17	35577895	35577895	Human	1	name
151750006	CV1430412	single nucleotide variant	NM_000286.3(PEX12):c.126+3A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002006766]	uncertain significance	17	35577893	35577893	Human	1	name
151804504	CV1456962	single nucleotide variant	NM_000286.3(PEX12):c.127-3T>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001877677]	uncertain significance	17	35577594	35577594	Human	1	name
151713744	CV1473110	single nucleotide variant	NM_000286.3(PEX12):c.126+6G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001889911]	uncertain significance	17	35577890	35577890	Human	1	name
156298924	CV2075766	single nucleotide variant	NM_000286.3(PEX12):c.680+3A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002857072]	uncertain significance	17	35577035	35577035	Human	1	name
156054666	CV2101927	single nucleotide variant	NM_000286.3(PEX12):c.680+8C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002886282]	likely benign	17	35577030	35577030	Human	1	name
156265994	CV2125316	single nucleotide variant	NM_000286.3(PEX12):c.681-5A>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002934055]	likely benign	17	35576186	35576186	Human	1	name
156125123	CV2144722	single nucleotide variant	NM_000286.3(PEX12):c.127-6C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003003139]	likely benign	17	35577597	35577597	Human	1	name
405085308	CV2903745	single nucleotide variant	NM_000286.3(PEX12):c.127-7G>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003535531]	likely benign	17	35577598	35577598	Human	1	name
405007114	CV3117575	single nucleotide variant	NM_000286.3(PEX12):c.126+1G>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003828630]	pathogenic	17	35577895	35577895	Human	1	name
405291098	CV3215331	single nucleotide variant	NM_000286.3(PEX12):c.680+6G>A	PEX12-related disorder [RCV004552724]	likely benign	17	35577032	35577032	Human		name , trait , alternate_id
12738663	CV358427	single nucleotide variant	NM_000286.3(PEX12):c.126+1G>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000412365]\|Peroxisome biogenesis disorder [RCV000589854]\|Peroxisome biogenesis disorder type 3B [RCV002505997]\|not provided [RCV000730395]	pathogenic\|likely pathogenic	17	35577895	35577895	Human	3	name
13519529	CV489029	single nucleotide variant	NM_000286.3(PEX12):c.681-2A>C	PEX12-related disorder [RCV004553310]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000668976]\|Peroxisome biogenesis disorder [RCV000781709]\|Peroxisome biogenesis disorder type 3B [RCV005010567]\|not provided [RCV000597979]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	35576183	35576183	Human	3	name , trait , alternate_id
13789654	CV548088	single nucleotide variant	NM_000286.3(PEX12):c.680+1G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001861845]\|Peroxisome biogenesis disorder type 3B [RCV000674616]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	35577037	35577037	Human	2	name
13784650	CV548097	single nucleotide variant	NM_000286.3(PEX12):c.126+2T>A	Peroxisome biogenesis disorder type 3B [RCV000671104]	likely pathogenic	17	35577894	35577894	Human	1	name
15116735	CV744959	single nucleotide variant	NM_000286.3(PEX12):c.126+8A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002065618]	likely benign	17	35577888	35577888	Human	1	name
127329640	CV1147050	single nucleotide variant	NM_000286.3(PEX12):c.681-15C>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001487563]	likely benign	17	35576196	35576196	Human	1	name
152028114	CV1576311	single nucleotide variant	NM_000286.3(PEX12):c.127-19T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002105125]	likely benign	17	35577610	35577610	Human	1	name
152102160	CV1591010	single nucleotide variant	NM_000286.3(PEX12):c.680+18C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002195687]	likely benign	17	35577020	35577020	Human	1	name
152092655	CV1596196	single nucleotide variant	NM_000286.3(PEX12):c.680+10T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002077921]	likely benign	17	35577028	35577028	Human	1	name
152036396	CV1617594	single nucleotide variant	NM_000286.3(PEX12):c.127-12A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002125401]	likely benign	17	35577603	35577603	Human	1	name
156351461	CV1870097	single nucleotide variant	NM_000286.3(PEX12):c.680+12A>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003064883]	likely benign	17	35577026	35577026	Human	1	name
156205135	CV1905850	single nucleotide variant	NM_000286.3(PEX12):c.127-20A>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003084370]	likely benign	17	35577611	35577611	Human	1	name
156036803	CV2089435	single nucleotide variant	NM_000286.3(PEX12):c.680+19C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002867279]	likely benign	17	35577019	35577019	Human	1	name
156245369	CV2149087	single nucleotide variant	NM_000286.3(PEX12):c.126+18G>A	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003008249]	likely benign	17	35577878	35577878	Human	1	name
405148992	CV2927779	single nucleotide variant	NM_000286.3(PEX12):c.126+17T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003538304]	likely benign	17	35577879	35577879	Human	1	name
404986872	CV3135419	single nucleotide variant	NM_000286.3(PEX12):c.680+11A>G	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003826714]	likely benign	17	35577027	35577027	Human	1	name
597895015	CV3773392	single nucleotide variant	NM_000286.3(PEX12):c.127-16C>T	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005111299]	likely benign	17	35577607	35577607	Human	1	name
597869320	CV3784070	single nucleotide variant	NM_000286.3(PEX12):c.681-11T>C	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005122374]	likely benign	17	35576192	35576192	Human	1	name
13788128	CV549740	single nucleotide variant	NM_000286.3(PEX12):c.680+26T>C	not provided [RCV000676168]	likely benign	17	35577012	35577012	Human		name
150415456	CV1178148	single nucleotide variant	NM_000286.3(PEX12):c.126+123A>C	not provided [RCV001548585]	likely benign	17	35577773	35577773	Human		name
150427947	CV1188522	duplication	NM_000286.3(PEX12):c.681-321dup	not provided [RCV001561603]	likely benign	17	35576487	35576488	Human		name
150430149	CV1232024	deletion	NM_000286.3(PEX12):c.681-307del	not provided [RCV001641286]	benign	17	35576488	35576488	Human		name
150480752	CV1239644	single nucleotide variant	NM_000286.3(PEX12):c.680+171T>C	not provided [RCV001652807]	benign	17	35576867	35576867	Human		name
11612987	CV344170	deletion	NM_000286.3(PEX12):c.880_883del	Peroxisome biogenesis disorder 1A (Zellweger) [RCV000264131]	benign	17	35574899	35574902	Human	1	name
11649277	CV344173	microsatellite	NM_000286.3(PEX12):c.*767CTAAT[1]	Peroxisome biogenesis disorder 1A (Zellweger) [RCV000286510]	uncertain significance	17	35575006	35575010	Human		name
11620541	CV344182	deletion	NM_000286.3(PEX12):c.550_552del	Peroxisome biogenesis disorder 1A (Zellweger) [RCV000337909]	likely benign	17	35575230	35575232	Human	1	name
11631249	CV345578	deletion	NM_000286.3(PEX12):c.569_570del	Peroxisome biogenesis disorder 1A (Zellweger) [RCV000372610]	likely benign	17	35575212	35575213	Human	1	name
156205848	CV2179305	deletion	NM_000286.3(PEX12):c.680_680+12del	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003024618]	pathogenic	17	35577026	35577038	Human	1	name
127295852	CV1126159	single nucleotide variant	NM_000286.3(PEX12):c.6T>C (p.Ala2=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001477183]	likely benign	17	35578016	35578016	Human	1	name
127316602	CV1147056	single nucleotide variant	NM_000286.3(PEX12):c.9G>A (p.Glu3=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001503063]	likely benign	17	35578013	35578013	Human	1	name
8639700	CV98682	deletion	NM_000286.3(PEX12):c.681-3_681-2del	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001083380]\|not provided [RCV000676167]\|not specified [RCV000078562]	benign\|likely benign	17	35576183	35576184	Human	1	name
127231181	CV1082944	deletion	NM_000286.3(PEX12):c.127-11_127-2del	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001395168]	likely benign	17	35577593	35577602	Human	1	name
127238436	CV1082945	single nucleotide variant	NM_000286.3(PEX12):c.18T>C (p.Ala6=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001392474]	likely benign	17	35578004	35578004	Human	1	name
405094635	CV2920071	deletion	NM_000286.3(PEX12):c.4del (p.Ala2fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536789]	pathogenic	17	35578018	35578018	Human	1	name
405147745	CV2928907	single nucleotide variant	NM_000286.3(PEX12):c.27A>G (p.Thr9=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003538153]	likely benign	17	35577995	35577995	Human	1	name
127295375	CV1126157	single nucleotide variant	NM_000286.3(PEX12):c.93A>C (p.Thr31=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001459725]	likely benign	17	35577929	35577929	Human	1	name
127304575	CV1126158	single nucleotide variant	NM_000286.3(PEX12):c.75A>G (p.Ala25=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001462296]	likely benign	17	35577947	35577947	Human	1	name
152081260	CV1546711	single nucleotide variant	NM_000286.3(PEX12):c.42C>G (p.Ala14=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002130843]	likely benign	17	35577980	35577980	Human	1	name
152134687	CV1576569	single nucleotide variant	NM_000286.3(PEX12):c.51G>A (p.Gln17=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002119540]	likely benign	17	35577971	35577971	Human	1	name
152165513	CV1611368	deletion	NM_000286.3(PEX12):c.681-21_681-19del	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002141731]	likely benign	17	35576200	35576202	Human	1	name
152097025	CV1628003	single nucleotide variant	NM_000286.3(PEX12):c.60C>T (p.Ile20=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002195055]	likely benign	17	35577962	35577962	Human	1	name
155940336	CV2142883	single nucleotide variant	NM_000286.3(PEX12):c.66G>A (p.Glu22=)	PEX12-related disorder [RCV004741367]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002994011]	likely benign	17	35577956	35577956	Human	1	name , trait , alternate_id
156215840	CV2176620	single nucleotide variant	NM_000286.3(PEX12):c.33T>C (p.Ala11=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003024994]	likely benign	17	35577989	35577989	Human	1	name
405088613	CV2859263	single nucleotide variant	NM_000286.3(PEX12):c.69G>A (p.Val23=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536265]	likely benign	17	35577953	35577953	Human	1	name
405087682	CV2861246	single nucleotide variant	NM_000286.3(PEX12):c.30T>C (p.Ala10=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536100]	likely benign	17	35577992	35577992	Human	1	name
405146437	CV2911439	deletion	NM_000286.3(PEX12):c.681-15_681-13del	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003538012]	likely benign	17	35576194	35576196	Human	1	name
405020867	CV2977388	single nucleotide variant	NM_000286.3(PEX12):c.54A>G (p.Pro18=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003650853]	likely benign	17	35577968	35577968	Human	1	name
11618814	CV328141	single nucleotide variant	NM_000286.3(PEX12):c.84T>C (p.Ser28=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001082684]\|not provided [RCV000729344]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	35577938	35577938	Human	1	name
597715888	CV3708927	single nucleotide variant	NM_000286.3(PEX12):c.1A>G (p.Met1Val)	Peroxisome biogenesis disorder type 3B [RCV005010205]	likely pathogenic	17	35578021	35578021	Human	1	name
597944296	CV3776558	single nucleotide variant	NM_000286.3(PEX12):c.42C>T (p.Ala14=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005119414]	likely benign	17	35577980	35577980	Human	1	name
13515464	CV492778	single nucleotide variant	NM_000286.3(PEX12):c.8A>G (p.Glu3Gly)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001867975]\|not provided [RCV000594312]	uncertain significance	17	35578014	35578014	Human	1	name
26884916	CV845243	single nucleotide variant	NM_000286.3(PEX12):c.9G>C (p.Glu3Asp)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001065126]	uncertain significance	17	35578013	35578013	Human	1	name
127284150	CV1104729	single nucleotide variant	NM_000286.3(PEX12):c.291T>C (p.Thr97=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001449019]	likely benign	17	35577427	35577427	Human	1	name
127302263	CV1126155	single nucleotide variant	NM_000286.3(PEX12):c.210C>G (p.Leu70=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001454406]	likely benign	17	35577508	35577508	Human	1	name
127304453	CV1126156	single nucleotide variant	NM_000286.3(PEX12):c.156T>C (p.Tyr52=)	PEX12-related disorder [RCV004740696]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001454969]	likely benign	17	35577562	35577562	Human	1	name , trait , alternate_id
127334279	CV1147054	single nucleotide variant	NM_000286.3(PEX12):c.288C>T (p.Asp96=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001490736]	likely benign	17	35577430	35577430	Human	1	name
127300150	CV1147055	single nucleotide variant	NM_000286.3(PEX12):c.225G>A (p.Leu75=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001498531]	likely benign	17	35577493	35577493	Human	1	name
151854217	CV1344295	single nucleotide variant	NM_000286.3(PEX12):c.16G>A (p.Ala6Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001923188]	uncertain significance	17	35578006	35578006	Human	1	name
151885693	CV1432171	indel	NM_000286.3(PEX12):c.680_680+1delinsCA	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002037812]	pathogenic	17	35577037	35577038	Human		name
151716620	CV1472833	single nucleotide variant	NM_000286.3(PEX12):c.13G>A (p.Gly5Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002039435]	uncertain significance	17	35578009	35578009	Human	1	name
152142862	CV1533267	single nucleotide variant	NM_000286.3(PEX12):c.193C>T (p.Leu65=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002156996]	likely benign	17	35577525	35577525	Human	1	name
152049740	CV1540373	single nucleotide variant	NM_000286.3(PEX12):c.271A>C (p.Arg91=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002108799]	likely benign	17	35577447	35577447	Human	1	name
152071055	CV1570207	single nucleotide variant	NM_000286.3(PEX12):c.276T>C (p.Ile92=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002191788]	likely benign	17	35577442	35577442	Human	1	name
152067127	CV1579123	single nucleotide variant	NM_000286.3(PEX12):c.150C>A (p.Thr50=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002074602]	likely benign	17	35577568	35577568	Human	1	name
152127830	CV1581210	single nucleotide variant	NM_000286.3(PEX12):c.114G>A (p.Gln38=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002099071]	likely benign	17	35577908	35577908	Human	1	name
152063095	CV1594621	single nucleotide variant	NM_000286.3(PEX12):c.223C>T (p.Leu75=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002110368]	likely benign	17	35577495	35577495	Human	1	name
152132271	CV1604740	single nucleotide variant	NM_000286.3(PEX12):c.192T>C (p.Thr64=)	PEX12-related disorder [RCV004553641]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002099648]	likely benign	17	35577526	35577526	Human	1	name , trait , alternate_id
156403961	CV1871969	single nucleotide variant	NM_000286.3(PEX12):c.258T>C (p.Phe86=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003052724]	likely benign	17	35577460	35577460	Human	1	name
156320944	CV1873087	single nucleotide variant	NM_000286.3(PEX12):c.291T>G (p.Thr97=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003063059]	likely benign	17	35577427	35577427	Human	1	name
156410429	CV1885887	single nucleotide variant	NM_000286.3(PEX12):c.138A>G (p.Glu46=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003072067]	likely benign	17	35577580	35577580	Human	1	name
401754736	CV2719945	single nucleotide variant	NM_000286.3(PEX12):c.21C>G (p.His7Gln)	Inborn genetic diseases [RCV003278118]	uncertain significance	17	35578001	35578001	Human	1	name
405095306	CV2916451	single nucleotide variant	NM_000286.3(PEX12):c.207G>T (p.Leu69=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536797]	likely benign	17	35577511	35577511	Human	1	name
405013213	CV2953175	single nucleotide variant	NM_000286.3(PEX12):c.273A>G (p.Arg91=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649554]	likely benign	17	35577445	35577445	Human	1	name
405014289	CV2966901	single nucleotide variant	NM_000286.3(PEX12):c.105C>T (p.Pro35=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649649]	likely benign	17	35577917	35577917	Human	1	name
405022256	CV2985789	single nucleotide variant	NM_000286.3(PEX12):c.255C>T (p.Asn85=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651005]	likely benign	17	35577463	35577463	Human	1	name
405043060	CV3026360	single nucleotide variant	NM_000286.3(PEX12):c.163T>C (p.Leu55=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653875]	likely benign	17	35577555	35577555	Human	1	name
597919138	CV3737928	single nucleotide variant	NM_000286.3(PEX12):c.252A>G (p.Glu84=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005074527]	likely benign	17	35577466	35577466	Human	1	name
13522993	CV492947	single nucleotide variant	NM_000286.3(PEX12):c.285G>A (p.Gly95=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001425316]\|not provided [RCV000592447]	likely benign\|uncertain significance	17	35577433	35577433	Human	1	name
13786395	CV548108	deletion	NM_000286.3(PEX12):c.1_2del (p.Met1fs)	Peroxisome biogenesis disorder type 3B [RCV000672791]	likely pathogenic	17	35578020	35578021	Human	1	name
15142583	CV771442	single nucleotide variant	NM_000286.3(PEX12):c.261C>T (p.Tyr87=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001498474]	likely benign	17	35577457	35577457	Human	1	name
15143672	CV771443	single nucleotide variant	NM_000286.3(PEX12):c.189T>C (p.Phe63=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000944283]	likely benign	17	35577529	35577529	Human	1	name
15131009	CV785541	single nucleotide variant	NM_000286.3(PEX12):c.186C>T (p.Ile62=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001427922]	likely benign	17	35577532	35577532	Human	1	name
26904449	CV845242	deletion	NM_000286.3(PEX12):c.31del (p.Ala11fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001050835]	pathogenic	17	35577991	35577991	Human	1	name
38457240	CV958090	single nucleotide variant	NM_000286.3(PEX12):c.216A>G (p.Gln72=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001246015]	likely benign\|uncertain significance	17	35577502	35577502	Human	1	name
38470519	CV958091	single nucleotide variant	NM_000286.3(PEX12):c.20A>G (p.His7Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001248425]	uncertain significance	17	35578002	35578002	Human	1	name
127267512	CV1064152	deletion	NM_000286.3(PEX12):c.174del (p.Trp58fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001381954]	pathogenic	17	35577544	35577544	Human	1	name
127282239	CV1082938	single nucleotide variant	NM_000286.3(PEX12):c.906T>C (p.Thr302=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001411011]	likely benign	17	35575956	35575956	Human	1	name
127244645	CV1082939	single nucleotide variant	NM_000286.3(PEX12):c.885C>T (p.Pro295=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001398591]	likely benign	17	35575977	35575977	Human	1	name
127240525	CV1082940	single nucleotide variant	NM_000286.3(PEX12):c.861C>T (p.His287=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001397789]	likely benign	17	35576001	35576001	Human	1	name
127264873	CV1082941	single nucleotide variant	NM_000286.3(PEX12):c.576G>C (p.Leu192=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001403431]	likely benign	17	35577142	35577142	Human	1	name
127248662	CV1082942	single nucleotide variant	NM_000286.3(PEX12):c.396G>A (p.Lys132=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001399447]	likely benign	17	35577322	35577322	Human	1	name
127280317	CV1082943	single nucleotide variant	NM_000286.3(PEX12):c.388C>T (p.Leu130=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001409713]	likely benign	17	35577330	35577330	Human	1	name
127276508	CV1104724	single nucleotide variant	NM_000286.3(PEX12):c.834C>T (p.Ala278=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001432848]	likely benign	17	35576028	35576028	Human	1	name
127278572	CV1104725	single nucleotide variant	NM_000286.3(PEX12):c.826T>C (p.Leu276=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001445151]	likely benign	17	35576036	35576036	Human	1	name
127275881	CV1104726	single nucleotide variant	NM_000286.3(PEX12):c.765A>G (p.Val255=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001443536]	likely benign	17	35576097	35576097	Human	1	name
127277717	CV1104727	single nucleotide variant	NM_000286.3(PEX12):c.450C>A (p.Ser150=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001444588]	likely benign	17	35577268	35577268	Human	1	name
127232765	CV1104728	single nucleotide variant	NM_000286.3(PEX12):c.360G>C (p.Leu120=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001421437]	likely benign	17	35577358	35577358	Human	1	name
127291012	CV1126153	single nucleotide variant	NM_000286.3(PEX12):c.795C>T (p.Tyr265=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001451390]	likely benign	17	35576067	35576067	Human	1	name
127291266	CV1126154	single nucleotide variant	NM_000286.3(PEX12):c.409C>T (p.Leu137=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001451451]	likely benign	17	35577309	35577309	Human	1	name
127304106	CV1147046	single nucleotide variant	NM_000286.3(PEX12):c.912C>T (p.Cys304=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001479397]	likely benign	17	35575950	35575950	Human	1	name
127337393	CV1147047	single nucleotide variant	NM_000286.3(PEX12):c.888C>G (p.Leu296=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001492823]	likely benign	17	35575974	35575974	Human	1	name
127302258	CV1147048	single nucleotide variant	NM_000286.3(PEX12):c.783T>C (p.Leu261=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001499043]	likely benign	17	35576079	35576079	Human	1	name
127307482	CV1147049	single nucleotide variant	NM_000286.3(PEX12):c.714A>G (p.Lys238=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001480320]	likely benign	17	35576148	35576148	Human	1	name
127285826	CV1147051	single nucleotide variant	NM_000286.3(PEX12):c.669A>G (p.Gln223=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001493738]	likely benign	17	35577049	35577049	Human	1	name
127328757	CV1147052	single nucleotide variant	NM_000286.3(PEX12):c.495T>C (p.Phe165=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001486950]	likely benign	17	35577223	35577223	Human	1	name
127293842	CV1147053	single nucleotide variant	NM_000286.3(PEX12):c.375T>C (p.Tyr125=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001496864]	likely benign	17	35577343	35577343	Human	1	name
150486644	CV1262608	duplication	NM_000286.3(PEX12):c.681-276_681-274dup	not provided [RCV001687005]	benign	17	35576454	35576455	Human		name
151710687	CV1377065	single nucleotide variant	NM_000286.3(PEX12):c.55T>C (p.Ser19Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001889318]	uncertain significance	17	35577967	35577967	Human	1	name
151789850	CV1392982	duplication	NM_000286.3(PEX12):c.222dup (p.Leu75fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001931308]	pathogenic	17	35577495	35577496	Human	1	name
151772858	CV1401098	single nucleotide variant	NM_000286.3(PEX12):c.307T>C (p.Leu103=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002045415]	likely benign	17	35577411	35577411	Human	1	name
151794075	CV1420525	single nucleotide variant	NM_000286.3(PEX12):c.43G>A (p.Asp15Asn)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002027489]	uncertain significance	17	35577979	35577979	Human	1	name
151772176	CV1427558	single nucleotide variant	NM_000286.3(PEX12):c.53C>T (p.Pro18Leu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001915088]	uncertain significance	17	35577969	35577969	Human	1	name
151764292	CV1447636	single nucleotide variant	NM_000286.3(PEX12):c.94G>A (p.Ala32Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001895696]	uncertain significance	17	35577928	35577928	Human	1	name
151850286	CV1448310	deletion	NM_000286.3(PEX12):c.116del (p.His39fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001957889]	pathogenic	17	35577906	35577906	Human	1	name
151889656	CV1479764	single nucleotide variant	NM_000286.3(PEX12):c.46G>A (p.Asp16Asn)	Inborn genetic diseases [RCV004953249]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001888225]	uncertain significance	17	35577976	35577976	Human	2	name
151753142	CV1501125	single nucleotide variant	NM_000286.3(PEX12):c.73G>C (p.Ala25Pro)	Inborn genetic diseases [RCV002569331]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001969403]	uncertain significance	17	35577949	35577949	Human	2	name
152084609	CV1525513	single nucleotide variant	NM_000286.3(PEX12):c.699C>T (p.Asn233=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002131266]	likely benign	17	35576163	35576163	Human	1	name
152078272	CV1531466	single nucleotide variant	NM_000286.3(PEX12):c.315T>C (p.Ser105=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002210890]	likely benign	17	35577403	35577403	Human	1	name
152127343	CV1533994	single nucleotide variant	NM_000286.3(PEX12):c.706C>T (p.Leu236=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002136485]	likely benign	17	35576156	35576156	Human	1	name
152068878	CV1535243	single nucleotide variant	NM_000286.3(PEX12):c.705T>C (p.Ala235=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002091311]	likely benign	17	35576157	35576157	Human	1	name
152087620	CV1536438	single nucleotide variant	NM_000286.3(PEX12):c.420G>A (p.Glu140=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002171395]	likely benign	17	35577298	35577298	Human	1	name
152088752	CV1541418	single nucleotide variant	NM_000286.3(PEX12):c.777G>A (p.Gln259=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002171548]	likely benign	17	35576085	35576085	Human	1	name
152121535	CV1547590	single nucleotide variant	NM_000286.3(PEX12):c.915A>T (p.Pro305=)	PEX12-related disorder [RCV004729088]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002081618]	likely benign	17	35575947	35575947	Human	1	name , trait , alternate_id
152139996	CV1549774	single nucleotide variant	NM_000286.3(PEX12):c.888C>T (p.Leu296=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002156637]	likely benign	17	35575974	35575974	Human	1	name
152138777	CV1565228	single nucleotide variant	NM_000286.3(PEX12):c.645A>G (p.Pro215=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002083876]	likely benign	17	35577073	35577073	Human	1	name
152083366	CV1565264	single nucleotide variant	NM_000286.3(PEX12):c.864A>G (p.Leu288=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002093148]	likely benign	17	35575998	35575998	Human	1	name
152069086	CV1566741	single nucleotide variant	NM_000286.3(PEX12):c.348T>C (p.Ser116=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002111202]	likely benign	17	35577370	35577370	Human	1	name
152126712	CV1582385	single nucleotide variant	NM_000286.3(PEX12):c.936G>A (p.Val312=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002198774]	likely benign	17	35575926	35575926	Human	1	name
152086383	CV1608354	single nucleotide variant	NM_000286.3(PEX12):c.582G>A (p.Arg194=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002212097]	likely benign	17	35577136	35577136	Human	1	name
152063317	CV1612059	single nucleotide variant	NM_000286.3(PEX12):c.547C>T (p.Leu183=)	PEX12-related disorder [RCV004553815]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002128615]	likely benign	17	35577171	35577171	Human	1	name , trait , alternate_id
152056834	CV1618720	single nucleotide variant	NM_000286.3(PEX12):c.567C>T (p.His189=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002127882]	likely benign	17	35577151	35577151	Human	1	name
152113169	CV1623820	single nucleotide variant	NM_000286.3(PEX12):c.969G>A (p.Val323=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002134751]	likely benign	17	35575893	35575893	Human	1	name
152078309	CV1627010	single nucleotide variant	NM_000286.3(PEX12):c.474T>C (p.Ala158=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002112412]	likely benign	17	35577244	35577244	Human	1	name
152098123	CV1627011	single nucleotide variant	NM_000286.3(PEX12):c.345A>G (p.Lys115=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002095137]	likely benign	17	35577373	35577373	Human	1	name
152143320	CV1651462	single nucleotide variant	NM_000286.3(PEX12):c.492A>G (p.Pro164=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002138450]\|not provided [RCV003418395]	likely benign	17	35577226	35577226	Human	1	name
152160476	CV1655747	single nucleotide variant	NM_000286.3(PEX12):c.351T>C (p.Ile117=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002203345]	likely benign	17	35577367	35577367	Human	1	name
152056132	CV1662824	single nucleotide variant	NM_000286.3(PEX12):c.708G>A (p.Leu236=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002146253]	likely benign	17	35576154	35576154	Human	1	name
152135475	CV1664225	single nucleotide variant	NM_000286.3(PEX12):c.574C>T (p.Leu192=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002156078]	likely benign	17	35577144	35577144	Human	1	name
9693182	CV177289	single nucleotide variant	NM_000286.3(PEX12):c.59T>C (p.Ile20Thr)	not provided [RCV000153676]	uncertain significance	17	35577963	35577963	Human		name
156252321	CV1883909	single nucleotide variant	NM_000286.3(PEX12):c.531A>G (p.Gln177=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003086148]	uncertain significance	17	35577187	35577187	Human	1	name
156375416	CV1899419	single nucleotide variant	NM_000286.3(PEX12):c.399G>T (p.Leu133=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003092821]	likely benign	17	35577319	35577319	Human	1	name
156317229	CV1910460	single nucleotide variant	NM_000286.3(PEX12):c.633G>A (p.Leu211=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002600017]	likely benign	17	35577085	35577085	Human	1	name
156444389	CV1938252	single nucleotide variant	NM_000286.3(PEX12):c.51G>C (p.Gln17His)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003115313]	uncertain significance	17	35577971	35577971	Human	1	name
156444561	CV1948286	single nucleotide variant	NM_000286.3(PEX12):c.723G>A (p.Gly241=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003115485]	likely benign	17	35576139	35576139	Human	1	name
156131417	CV1962726	single nucleotide variant	NM_000286.3(PEX12):c.29C>T (p.Ala10Val)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002572245]	uncertain significance	17	35577993	35577993	Human	1	name
156310925	CV2000078	single nucleotide variant	NM_000286.3(PEX12):c.939T>C (p.Asn313=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002671630]	likely benign	17	35575923	35575923	Human	1	name
156027156	CV2004667	single nucleotide variant	NM_000286.3(PEX12):c.987G>A (p.Val329=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002658503]	likely benign	17	35575875	35575875	Human	1	name
156102171	CV2009853	single nucleotide variant	NM_000286.3(PEX12):c.414A>G (p.Arg138=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002706712]	likely benign	17	35577304	35577304	Human	1	name
156234815	CV2021501	single nucleotide variant	NM_000286.3(PEX12):c.44A>C (p.Asp15Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002745445]	uncertain significance	17	35577978	35577978	Human	1	name
155952585	CV2058848	single nucleotide variant	NM_000286.3(PEX12):c.972T>C (p.Phe324=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002816348]	likely benign	17	35575890	35575890	Human	1	name
156147606	CV2078757	single nucleotide variant	NM_000286.3(PEX12):c.321T>C (p.Gly107=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002872209]	likely benign	17	35577397	35577397	Human	1	name
156250839	CV2082585	single nucleotide variant	NM_000286.3(PEX12):c.936G>T (p.Val312=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002876934]	likely benign	17	35575926	35575926	Human	1	name
155947953	CV2087686	single nucleotide variant	NM_000286.3(PEX12):c.693G>A (p.Lys231=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002880334]	likely benign	17	35576169	35576169	Human	1	name
156152843	CV2098547	single nucleotide variant	NM_000286.3(PEX12):c.675C>T (p.Ala225=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002890712]	likely benign	17	35577043	35577043	Human	1	name
155941429	CV2114903	single nucleotide variant	NM_000286.3(PEX12):c.966T>C (p.Tyr322=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002904499]	likely benign	17	35575896	35575896	Human	1	name
155920217	CV2148895	deletion	NM_000286.3(PEX12):c.286del (p.Asp96fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002991867]	pathogenic	17	35577432	35577432	Human	1	name
155984164	CV2163319	single nucleotide variant	NM_000286.3(PEX12):c.583C>T (p.Leu195=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003034018]	likely benign	17	35577135	35577135	Human	1	name
156069020	CV2167164	single nucleotide variant	NM_000286.3(PEX12):c.921T>C (p.Cys307=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003019981]	likely benign	17	35575941	35575941	Human	1	name
156087275	CV2184562	single nucleotide variant	NM_000286.3(PEX12):c.372C>G (p.Pro124=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003054233]	likely benign	17	35577346	35577346	Human	1	name
405090033	CV2856650	single nucleotide variant	NM_000286.3(PEX12):c.744T>C (p.Ser248=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536385]	likely benign	17	35576118	35576118	Human	1	name
405087137	CV2857531	single nucleotide variant	NM_000286.3(PEX12):c.846A>G (p.Pro282=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536060]	likely benign	17	35576016	35576016	Human	1	name
405088976	CV2866160	single nucleotide variant	NM_000286.3(PEX12):c.957C>G (p.Thr319=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536296]	likely benign	17	35575905	35575905	Human	1	name
405090693	CV2866985	single nucleotide variant	NM_000286.3(PEX12):c.462A>G (p.Arg154=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536439]	likely benign	17	35577256	35577256	Human	1	name
405141691	CV2878678	single nucleotide variant	NM_000286.3(PEX12):c.483A>G (p.Ala161=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003537551]	likely benign	17	35577235	35577235	Human	1	name
405156428	CV2883731	single nucleotide variant	NM_000286.3(PEX12):c.915A>C (p.Pro305=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003539304]	likely benign	17	35575947	35575947	Human	1	name
405081550	CV2894992	single nucleotide variant	NM_000286.3(PEX12):c.816C>G (p.Thr272=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003535203]	likely benign	17	35576046	35576046	Human	1	name
405093523	CV2915525	single nucleotide variant	NM_000286.3(PEX12):c.945T>A (p.Thr315=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536685]	likely benign	17	35575917	35575917	Human	1	name
405014098	CV2956064	single nucleotide variant	NM_000286.3(PEX12):c.624A>T (p.Ile208=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649630]	likely benign	17	35577094	35577094	Human	1	name
405014924	CV2968536	single nucleotide variant	NM_000286.3(PEX12):c.573A>G (p.Pro191=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649719]	likely benign	17	35577145	35577145	Human	1	name
405014808	CV2971997	single nucleotide variant	NM_000286.3(PEX12):c.684T>C (p.Val228=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649706]	likely benign	17	35576178	35576178	Human	1	name
405022900	CV2989509	single nucleotide variant	NM_000286.3(PEX12):c.804A>G (p.Glu268=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651074]	likely benign	17	35576058	35576058	Human	1	name
405031356	CV2996153	single nucleotide variant	NM_000286.3(PEX12):c.963C>G (p.Gly321=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003652301]	likely benign	17	35575899	35575899	Human	1	name
405040992	CV3007376	single nucleotide variant	NM_000286.3(PEX12):c.978C>T (p.Tyr326=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653680]	likely benign	17	35575884	35575884	Human	1	name
405033957	CV3015272	single nucleotide variant	NM_000286.3(PEX12):c.498G>A (p.Val166=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003652551]	likely benign	17	35577220	35577220	Human	1	name
405036132	CV3017354	single nucleotide variant	NM_000286.3(PEX12):c.564T>C (p.His188=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003652768]	likely benign	17	35577154	35577154	Human	1	name
405042765	CV3025378	single nucleotide variant	NM_000286.3(PEX12):c.324C>T (p.Leu108=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653792]	likely benign	17	35577394	35577394	Human	1	name
405043031	CV3029787	single nucleotide variant	NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653873]	uncertain significance	17	35577939	35577939	Human	1	name
405027419	CV3061247	deletion	NM_000286.3(PEX12):c.122del (p.Val41fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651457]	pathogenic	17	35577900	35577900	Human	1	name
405028340	CV3065459	single nucleotide variant	NM_000286.3(PEX12):c.819C>T (p.Ile273=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651581]	likely benign	17	35576043	35576043	Human	1	name
405031283	CV3078750	single nucleotide variant	NM_000286.3(PEX12):c.486C>T (p.Ala162=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651809]	likely benign	17	35577232	35577232	Human	1	name
405192044	CV3157151	single nucleotide variant	NM_000286.3(PEX12):c.76C>T (p.Gln26Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003859839]	pathogenic	17	35577946	35577946	Human	1	name
11623604	CV338010	single nucleotide variant	NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)	Inborn genetic diseases [RCV004021697]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000920088]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	35577981	35577981	Human	2	name
405870958	CV3399072	duplication	NM_000286.3(PEX12):c.220dup (p.Tyr74fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV004574503]	likely pathogenic	17	35577497	35577498	Human	1	name
597920487	CV3765127	single nucleotide variant	NM_000286.3(PEX12):c.831T>C (p.Thr277=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005115144]	likely benign	17	35576031	35576031	Human	1	name
597943937	CV3765938	single nucleotide variant	NM_000286.3(PEX12):c.933G>A (p.Arg311=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005119316]	likely benign	17	35575929	35575929	Human	1	name
597950976	CV3769385	single nucleotide variant	NM_000286.3(PEX12):c.540A>T (p.Arg180=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005120944]	likely benign	17	35577178	35577178	Human	1	name
597913918	CV3778778	single nucleotide variant	NM_000286.3(PEX12):c.507C>T (p.Ala169=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005129123]	likely benign	17	35577211	35577211	Human	1	name
597916852	CV3851660	single nucleotide variant	NM_000286.3(PEX12):c.312T>G (p.Ala104=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005204421]	likely benign	17	35577406	35577406	Human	1	name
597901009	CV3855133	single nucleotide variant	NM_000286.3(PEX12):c.486C>G (p.Ala162=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005202041]	likely benign	17	35577232	35577232	Human	1	name
13789123	CV548082	single nucleotide variant	NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002532046]\|Peroxisome biogenesis disorder type 3B [RCV000665795]	pathogenic\|likely pathogenic	17	35577973	35577973	Human	2	name
13832896	CV584121	single nucleotide variant	NM_000286.3(PEX12):c.441C>T (p.Pro147=)	not provided [RCV000727989]	uncertain significance	17	35577277	35577277	Human		name
13834413	CV585659	single nucleotide variant	NM_000286.3(PEX12):c.570A>G (p.Ser190=)	PEX12-related disorder [RCV004547927]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001079059]\|not provided [RCV000729923]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	35577148	35577148	Human	1	name , trait , alternate_id
13835457	CV586716	single nucleotide variant	NM_000286.3(PEX12):c.86T>G (p.Leu29Ter)	not provided [RCV000731271]	pathogenic	17	35577936	35577936	Human		name
13838346	CV589648	single nucleotide variant	NM_000286.3(PEX12):c.597G>A (p.Gln199=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002535412]\|not provided [RCV000735016]	likely benign\|uncertain significance	17	35577121	35577121	Human	1	name
15162195	CV704097	single nucleotide variant	NM_000286.3(PEX12):c.867C>T (p.Asp289=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000947811]\|Peroxisome biogenesis disorder type 3B [RCV002502911]	benign	17	35575995	35575995	Human	2	name
15181655	CV727115	single nucleotide variant	NM_000286.3(PEX12):c.849A>G (p.Pro283=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002065504]	likely benign	17	35576013	35576013	Human	1	name
15149970	CV755787	single nucleotide variant	NM_000286.3(PEX12):c.543C>T (p.Tyr181=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000923386]	likely benign	17	35577175	35577175	Human	1	name
15167368	CV755788	single nucleotide variant	NM_000286.3(PEX12):c.447T>C (p.Ser149=)	PEX12-related disorder [RCV004551870]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000927074]	likely benign	17	35577271	35577271	Human	1	name , trait , alternate_id
15188046	CV771441	single nucleotide variant	NM_000286.3(PEX12):c.408C>T (p.Ser136=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001405145]	likely benign	17	35577310	35577310	Human	1	name
15136452	CV785540	single nucleotide variant	NM_000286.3(PEX12):c.666G>A (p.Gln222=)	PEX12-related disorder [RCV004553521]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000982114]\|not provided [RCV003992427]	likely benign	17	35577052	35577052	Human	1	name , trait , alternate_id
126923569	CV1050209	single nucleotide variant	NM_000286.3(PEX12):c.236G>C (p.Ser79Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001365994]	uncertain significance	17	35577482	35577482	Human	1	name
127277754	CV1082936	single nucleotide variant	NM_000286.3(PEX12):c.1062C>G (p.Leu354=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001408031]\|not provided [RCV004706107]	likely benign	17	35575800	35575800	Human	1	name
127280825	CV1082937	single nucleotide variant	NM_000286.3(PEX12):c.1014T>G (p.Ala338=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001410069]	likely benign	17	35575848	35575848	Human	1	name
151727852	CV1242021	duplication	NM_000286.3(PEX12):c.308dup (p.Leu103fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001844387]	pathogenic	17	35577409	35577410	Human	1	name
151759038	CV1340624	single nucleotide variant	NM_000286.3(PEX12):c.145C>G (p.Pro49Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001913764]	uncertain significance	17	35577573	35577573	Human	1	name
151890744	CV1350631	single nucleotide variant	NM_000286.3(PEX12):c.272G>C (p.Arg91Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002038892]	uncertain significance	17	35577446	35577446	Human	1	name
151885253	CV1350762	single nucleotide variant	NM_000286.3(PEX12):c.101G>A (p.Arg34Lys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001887317]	uncertain significance	17	35577921	35577921	Human	1	name
151868236	CV1366849	deletion	NM_000286.3(PEX12):c.842del (p.Thr281fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001939441]	pathogenic\|likely pathogenic	17	35576020	35576020	Human	1	name
151751340	CV1426726	single nucleotide variant	NM_000286.3(PEX12):c.191C>T (p.Thr64Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002006893]	uncertain significance	17	35577527	35577527	Human	1	name
151834443	CV1429070	single nucleotide variant	NM_000286.3(PEX12):c.166T>C (p.Trp56Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001994040]	uncertain significance	17	35577552	35577552	Human	1	name
151780475	CV1458131	deletion	NM_000286.3(PEX12):c.511del (p.Glu171fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001951022]	pathogenic\|likely pathogenic	17	35577207	35577207	Human	1	name
151737769	CV1463893	single nucleotide variant	NM_000286.3(PEX12):c.106G>C (p.Ala36Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001911613]\|Peroxisome biogenesis disorder type 3B [RCV005253928]	uncertain significance	17	35577916	35577916	Human	2	name
151828601	CV1465411	single nucleotide variant	NM_000286.3(PEX12):c.244T>C (p.Phe82Leu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002014085]	uncertain significance	17	35577474	35577474	Human	1	name
151795739	CV1471065	single nucleotide variant	NM_000286.3(PEX12):c.174G>T (p.Trp58Cys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001952462]	uncertain significance	17	35577544	35577544	Human	1	name
151808768	CV1500814	deletion	NM_000286.3(PEX12):c.471del (p.Ala158fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001974575]	pathogenic	17	35577247	35577247	Human	1	name
152147397	CV1608197	single nucleotide variant	NM_000286.3(PEX12):c.1032T>C (p.Tyr344=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002178931]	likely benign	17	35575830	35575830	Human	1	name
9693181	CV177932	single nucleotide variant	NM_000286.3(PEX12):c.117T>G (p.His39Gln)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001850102]\|not provided [RCV000153675]	uncertain significance	17	35577905	35577905	Human	1	name
156380790	CV1871616	deletion	NM_000286.3(PEX12):c.887del (p.Leu296fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003050466]	pathogenic	17	35575975	35575975	Human	1	name
156408210	CV1873321	single nucleotide variant	NM_000286.3(PEX12):c.233C>T (p.Thr78Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003071173]	uncertain significance	17	35577485	35577485	Human	1	name
156021023	CV1882308	single nucleotide variant	NM_000286.3(PEX12):c.103C>A (p.Pro35Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003077620]	uncertain significance	17	35577919	35577919	Human	1	name
156066268	CV1888812	single nucleotide variant	NM_000286.3(PEX12):c.220T>C (p.Tyr74His)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003079387]	uncertain significance	17	35577498	35577498	Human	1	name
156032111	CV1910886	single nucleotide variant	NM_000286.3(PEX12):c.116A>G (p.His39Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002619897]	uncertain significance	17	35577906	35577906	Human	1	name
156404861	CV1919069	single nucleotide variant	NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002585515]	uncertain significance	17	35577898	35577898	Human	1	name
156395533	CV1927970	duplication	NM_000286.3(PEX12):c.541dup (p.Tyr181fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002654874]	pathogenic	17	35577176	35577177	Human	1	name
156215200	CV1997396	duplication	NM_000286.3(PEX12):c.348dup (p.Ile117fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002667002]	pathogenic	17	35577369	35577370	Human	1	name
155935134	CV2023846	single nucleotide variant	NM_000286.3(PEX12):c.143A>T (p.Asn48Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002774815]	uncertain significance	17	35577575	35577575	Human	1	name
155935323	CV2035398	single nucleotide variant	NM_000286.3(PEX12):c.218A>G (p.His73Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002751412]	uncertain significance	17	35577500	35577500	Human	1	name
156000525	CV2045532	single nucleotide variant	NM_000286.3(PEX12):c.1051C>T (p.Leu351=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002756179]	likely benign	17	35575811	35575811	Human	1	name
156068324	CV2050801	deletion	NM_000286.3(PEX12):c.669del (p.Gln223fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002797324]	pathogenic	17	35577049	35577049	Human	1	name
156272153	CV2056020	deletion	NM_000286.3(PEX12):c.725del (p.Gly242fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002806700]	pathogenic	17	35576137	35576137	Human	1	name
156159313	CV2073978	single nucleotide variant	NM_000286.3(PEX12):c.238G>A (p.Ala80Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002851149]	uncertain significance	17	35577480	35577480	Human	1	name
156053220	CV2093596	deletion	NM_000286.3(PEX12):c.808del (p.Gln270fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002867852]\|Peroxisome biogenesis disorder type 3B [RCV005008774]	pathogenic\|likely pathogenic	17	35576054	35576054	Human	2	name
156152028	CV2125044	duplication	NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002928936]	pathogenic	17	35578000	35578001	Human	1	name
156066882	CV2176103	deletion	NM_000286.3(PEX12):c.459del (p.Lys153fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003053594]	pathogenic	17	35577259	35577259	Human	1	name
8560099	CV22815	microsatellite	NM_000286.3(PEX12):c.26_27del (p.Thr9fs)	Peroxisomal biogenesis disorder 3b [RCV000008218]	pathogenic	17	35577995	35577996	Human		name
8560101	CV22817	single nucleotide variant	NM_000286.3(PEX12):c.273A>T (p.Arg91Ser)	Peroxisomal biogenesis disorder 3b [RCV000008220]	pathogenic	17	35577445	35577445	Human	1	name
401877593	CV2779876	single nucleotide variant	NM_000286.3(PEX12):c.211C>A (p.Gln71Lys)	Inborn genetic diseases [RCV003348478]	uncertain significance	17	35577507	35577507	Human	1	name
401950371	CV2834808	deletion	NM_000286.3(PEX12):c.363del (p.Leu122fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476796]	likely pathogenic	17	35577355	35577355	Human	1	name
401950374	CV2834811	duplication	NM_000286.3(PEX12):c.329dup (p.Gln111fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476799]	likely pathogenic	17	35577388	35577389	Human	1	name
401950375	CV2834812	single nucleotide variant	NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476800]	pathogenic\|likely pathogenic	17	35577578	35577578	Human	1	name
405083118	CV2895800	single nucleotide variant	NM_000286.3(PEX12):c.1065C>T (p.Tyr355=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003535346]	likely benign	17	35575797	35575797	Human	1	name
405023721	CV2987115	duplication	NM_000286.3(PEX12):c.816dup (p.Ile273fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651116]	pathogenic	17	35576045	35576046	Human	1	name
405024496	CV2991074	duplication	NM_000286.3(PEX12):c.698dup (p.Asn233fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651186]	pathogenic	17	35576163	35576164	Human	1	name
405041683	CV3024940	single nucleotide variant	NM_000286.3(PEX12):c.1038A>G (p.Thr346=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653750]	likely benign	17	35575824	35575824	Human	1	name
405030665	CV3070534	single nucleotide variant	NM_000286.3(PEX12):c.1008C>T (p.His336=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651792]	likely benign	17	35575854	35575854	Human	1	name
404976946	CV3123702	single nucleotide variant	NM_000286.3(PEX12):c.1020C>T (p.Pro340=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003825128]	likely benign	17	35575842	35575842	Human	1	name
11613242	CV338007	single nucleotide variant	NM_000286.3(PEX12):c.1002G>A (p.Arg334=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001079135]\|not provided [RCV000732703]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	35575860	35575860	Human	1	name
597768944	CV3708924	duplication	NM_000286.3(PEX12):c.704dup (p.Leu236fs)	Peroxisome biogenesis disorder type 3B [RCV005020164]	likely pathogenic	17	35576157	35576158	Human	1	name
597715860	CV3708925	indel	NM_000286.3(PEX12):c.678_680+1delinsAAGT	Peroxisome biogenesis disorder type 3B [RCV005010202]	likely pathogenic	17	35577037	35577040	Human		name
597715871	CV3708926	single nucleotide variant	NM_000286.3(PEX12):c.140C>A (p.Ser47Ter)	Peroxisome biogenesis disorder type 3B [RCV005010203]	likely pathogenic	17	35577578	35577578	Human	1	name
597870343	CV3768159	deletion	NM_000286.3(PEX12):c.483del (p.Ala162fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005122538]	pathogenic	17	35577235	35577235	Human	1	name
13786604	CV548058	deletion	NM_000286.3(PEX12):c.644del (p.Pro215fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653257]\|Peroxisome biogenesis disorder type 3B [RCV000672949]	pathogenic\|likely pathogenic	17	35577074	35577074	Human	2	name
13789649	CV548074	single nucleotide variant	NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001861749]\|Peroxisome biogenesis disorder type 3B [RCV000666102]	pathogenic\|likely pathogenic	17	35577507	35577507	Human	2	name
13792414	CV548081	deletion	NM_000286.3(PEX12):c.781del (p.Asp262fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001385892]\|Peroxisome biogenesis disorder type 3B [RCV000668677]	pathogenic\|likely pathogenic	17	35576081	35576081	Human	2	name
13782749	CV548344	duplication	NM_000286.3(PEX12):c.744dup (p.Thr249fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001333351]\|Peroxisome biogenesis disorder [RCV001174916]\|Peroxisome biogenesis disorder type 3B [RCV000669254]\|not provided [RCV001008292]	pathogenic\|likely pathogenic	17	35576117	35576118	Human	3	name
13783368	CV548359	single nucleotide variant	NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001855532]\|Peroxisome biogenesis disorder type 3B [RCV000670011]	pathogenic\|likely pathogenic	17	35577496	35577496	Human	2	name
13782661	CV548818	deletion	NM_000286.3(PEX12):c.771del (p.Leu258fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653255]\|Peroxisome biogenesis disorder type 3B [RCV000669146]	pathogenic\|likely pathogenic	17	35576091	35576091	Human	2	name
13832331	CV582825	deletion	NM_000286.3(PEX12):c.535del (p.Leu179fs)	not provided [RCV000723018]	uncertain significance	17	35577183	35577183	Human		name
13833330	CV584560	single nucleotide variant	NM_000286.3(PEX12):c.295A>G (p.Lys99Glu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001862151]\|not provided [RCV000728553]	uncertain significance	17	35577423	35577423	Human	1	name
15159254	CV740692	single nucleotide variant	NM_000286.3(PEX12):c.1068C>T (p.Ser356=)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000902898]	likely benign	17	35575794	35575794	Human	1	name
26919281	CV845241	single nucleotide variant	NM_000286.3(PEX12):c.200A>G (p.Asp67Gly)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001058798]	uncertain significance	17	35577518	35577518	Human	1	name
38492205	CV928237	single nucleotide variant	NM_000286.3(PEX12):c.237T>A (p.Ser79Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001223397]	uncertain significance	17	35577481	35577481	Human	1	name
38483331	CV937898	single nucleotide variant	NM_000286.3(PEX12):c.203T>A (p.Leu68His)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001207603]	uncertain significance	17	35577515	35577515	Human	1	name
38499763	CV958089	single nucleotide variant	NM_000286.3(PEX12):c.294C>A (p.His98Gln)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001245050]	uncertain significance	17	35577424	35577424	Human	1	name
8639698	CV98680	single nucleotide variant	NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)	PEX12-related disorder [RCV004549498]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001082581]\|Peroxisome biogenesis disorder type 3B [RCV000989844]\|Peroxisome biogenesis disorder type 3B [RCV002498379]\|not provided [RCV000514867]\|not specified [RCV000078560 ... (more) ]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	35577920	35577920	Human	2	name , trait , alternate_id
126734351	CV997508	single nucleotide variant	NM_000286.3(PEX12):c.263G>C (p.Gly88Ala)	Inborn genetic diseases [RCV003294193]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001294901]	uncertain significance	17	35577455	35577455	Human	2	name
126752452	CV997509	single nucleotide variant	NM_000286.3(PEX12):c.245T>G (p.Phe82Cys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001297731]	uncertain significance	17	35577473	35577473	Human	1	name
126747263	CV997510	single nucleotide variant	NM_000286.3(PEX12):c.239C>T (p.Ala80Val)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001296702]	uncertain significance	17	35577479	35577479	Human	1	name
126730148	CV1021626	single nucleotide variant	NM_000286.3(PEX12):c.608T>C (p.Leu203Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001333350]	uncertain significance	17	35577110	35577110	Human	1	name
126774232	CV1033236	single nucleotide variant	NM_000286.3(PEX12):c.903G>C (p.Lys301Asn)	Inborn genetic diseases [RCV003169690]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001346987]	uncertain significance	17	35575959	35575959	Human	2	name
126913625	CV1050208	single nucleotide variant	NM_000286.3(PEX12):c.319G>C (p.Gly107Arg)	PEX12-related disorder [RCV004728684]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001370175]	uncertain significance	17	35577399	35577399	Human	1	name , trait , alternate_id
127239504	CV1064149	single nucleotide variant	NM_000286.3(PEX12):c.895A>T (p.Lys299Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001383266]	pathogenic	17	35575967	35575967	Human	1	name
127267209	CV1064150	single nucleotide variant	NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001388910]	pathogenic\|likely pathogenic	17	35577387	35577387	Human	1	name
150540683	CV1296077	single nucleotide variant	NM_000286.3(PEX12):c.907G>A (p.Val303Met)	Inborn genetic diseases [RCV005382172]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002544024]\|not provided [RCV001760546]	uncertain significance	17	35575955	35575955	Human	2	name
150540684	CV1296078	single nucleotide variant	NM_000286.3(PEX12):c.398T>A (p.Leu133Gln)	not provided [RCV001760547]	uncertain significance	17	35577320	35577320	Human		name
150543682	CV1309718	single nucleotide variant	NM_000286.3(PEX12):c.853C>T (p.Pro285Ser)	not provided [RCV003237468]	likely pathogenic	17	35576009	35576009	Human		name
151758079	CV1340478	single nucleotide variant	NM_000286.3(PEX12):c.877G>A (p.Asp293Asn)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001913661]	uncertain significance	17	35575985	35575985	Human	1	name
151889850	CV1350358	single nucleotide variant	NM_000286.3(PEX12):c.431C>T (p.Ser144Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002038684]	uncertain significance	17	35577287	35577287	Human	1	name
151847968	CV1352833	single nucleotide variant	NM_000286.3(PEX12):c.932G>A (p.Arg311Gln)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001922380]\|not provided [RCV005429367]	uncertain significance	17	35575930	35575930	Human	1	name
151733514	CV1355730	single nucleotide variant	NM_000286.3(PEX12):c.745A>G (p.Thr249Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001984445]	uncertain significance	17	35576117	35576117	Human	1	name
151750148	CV1360723	single nucleotide variant	NM_000286.3(PEX12):c.628G>T (p.Ala210Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001894251]	uncertain significance	17	35577090	35577090	Human	1	name
151760052	CV1361826	single nucleotide variant	NM_000286.3(PEX12):c.799T>C (p.Ser267Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001928405]	uncertain significance	17	35576063	35576063	Human	1	name
151877970	CV1368958	single nucleotide variant	NM_000286.3(PEX12):c.671C>G (p.Pro224Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001999171]	uncertain significance	17	35577047	35577047	Human	1	name
151865398	CV1371002	single nucleotide variant	NM_000286.3(PEX12):c.391G>A (p.Glu131Lys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001884470]	uncertain significance	17	35577327	35577327	Human	1	name
151860973	CV1374150	single nucleotide variant	NM_000286.3(PEX12):c.913C>G (p.Pro305Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001938538]	uncertain significance	17	35575949	35575949	Human	1	name
151820052	CV1378319	single nucleotide variant	NM_000286.3(PEX12):c.946G>C (p.Val316Leu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002029803]	uncertain significance	17	35575916	35575916	Human	1	name
151781666	CV1381208	single nucleotide variant	NM_000286.3(PEX12):c.908T>C (p.Val303Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001875413]	uncertain significance	17	35575954	35575954	Human	1	name
151838209	CV1382718	single nucleotide variant	NM_000286.3(PEX12):c.944C>A (p.Thr315Asn)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002031512]	uncertain significance	17	35575918	35575918	Human	1	name
151803161	CV1401329	single nucleotide variant	NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001932496]	pathogenic	17	35576067	35576067	Human	1	name
151858968	CV1403613	single nucleotide variant	NM_000286.3(PEX12):c.373T>C (p.Tyr125His)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001996885]	uncertain significance	17	35577345	35577345	Human	1	name
151892950	CV1411691	single nucleotide variant	NM_000286.3(PEX12):c.424G>A (p.Glu142Lys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001944639]	uncertain significance	17	35577294	35577294	Human	1	name
151863942	CV1416392	single nucleotide variant	NM_000286.3(PEX12):c.724G>A (p.Gly242Ser)	Inborn genetic diseases [RCV002563547]\|PEX12-related disorder [RCV004552131]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001997499]	uncertain significance	17	35576138	35576138	Human	2	name , trait , alternate_id
151874899	CV1418951	single nucleotide variant	NM_000286.3(PEX12):c.485C>G (p.Ala162Gly)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001906945]	uncertain significance	17	35577233	35577233	Human	1	name
151793426	CV1422432	single nucleotide variant	NM_000286.3(PEX12):c.734T>C (p.Leu245Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001898396]	uncertain significance	17	35576128	35576128	Human	1	name
151793766	CV1422549	single nucleotide variant	NM_000286.3(PEX12):c.518G>A (p.Trp173Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001898428]\|Peroxisome biogenesis disorder type 3B [RCV005016764]	pathogenic\|likely pathogenic	17	35577200	35577200	Human	2	name
151871668	CV1429775	single nucleotide variant	NM_000286.3(PEX12):c.354G>A (p.Met118Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002019031]	uncertain significance	17	35577364	35577364	Human	1	name
151805083	CV1444296	deletion	NM_000286.3(PEX12):c.51_54del (p.Gln17fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001918071]	pathogenic	17	35577968	35577971	Human	1	name
151792968	CV1447004	single nucleotide variant	NM_000286.3(PEX12):c.461G>A (p.Arg154Gln)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001876682]	uncertain significance	17	35577257	35577257	Human	1	name
151850471	CV1452106	single nucleotide variant	NM_000286.3(PEX12):c.551G>A (p.Gly184Glu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002016510]	uncertain significance	17	35577167	35577167	Human	1	name
151822117	CV1452504	single nucleotide variant	NM_000286.3(PEX12):c.761G>C (p.Gly254Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002049901]	uncertain significance	17	35576101	35576101	Human	1	name
151884707	CV1452730	single nucleotide variant	NM_000286.3(PEX12):c.967G>C (p.Val323Leu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002037607]	uncertain significance	17	35575895	35575895	Human	1	name
151869929	CV1454036	single nucleotide variant	NM_000286.3(PEX12):c.899T>C (p.Met300Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001925066]	uncertain significance	17	35575963	35575963	Human	1	name
151733429	CV1456514	single nucleotide variant	NM_000286.3(PEX12):c.301C>G (p.Gln101Glu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002041437]	uncertain significance	17	35577417	35577417	Human	1	name
151828266	CV1462010	single nucleotide variant	NM_000286.3(PEX12):c.435T>G (p.Ile145Met)	Inborn genetic diseases [RCV004956018]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001993453]	uncertain significance	17	35577283	35577283	Human	2	name
151818334	CV1463970	single nucleotide variant	NM_000286.3(PEX12):c.382G>A (p.Val128Met)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001933895]	uncertain significance	17	35577336	35577336	Human	1	name
151872970	CV1467165	single nucleotide variant	NM_000286.3(PEX12):c.940G>C (p.Asp314His)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001925453]	uncertain significance	17	35575922	35575922	Human	1	name
151783796	CV1474491	single nucleotide variant	NM_000286.3(PEX12):c.847C>T (p.Pro283Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001930687]	uncertain significance	17	35576015	35576015	Human	1	name
151808314	CV1474783	single nucleotide variant	NM_000286.3(PEX12):c.514G>A (p.Gly172Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001932949]	uncertain significance	17	35577204	35577204	Human	1	name
151889251	CV1479591	single nucleotide variant	NM_000286.3(PEX12):c.892C>T (p.Pro298Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001888138]	uncertain significance	17	35575970	35575970	Human	1	name
151849415	CV1480490	single nucleotide variant	NM_000286.3(PEX12):c.913C>T (p.Pro305Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001903887]	uncertain significance	17	35575949	35575949	Human	1	name
151810243	CV1506490	single nucleotide variant	NM_000286.3(PEX12):c.342G>A (p.Trp114Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001918534]	pathogenic	17	35577376	35577376	Human	1	name
151742780	CV1507461	single nucleotide variant	NM_000286.3(PEX12):c.616C>A (p.Gln206Lys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001968309]	uncertain significance	17	35577102	35577102	Human	1	name
151735459	CV1508849	single nucleotide variant	NM_000286.3(PEX12):c.860A>T (p.His287Leu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002021757]	uncertain significance	17	35576002	35576002	Human	1	name
151874372	CV1510387	single nucleotide variant	NM_000286.3(PEX12):c.505G>A (p.Ala169Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001940209]	uncertain significance	17	35577213	35577213	Human	1	name
151874417	CV1511497	single nucleotide variant	NM_000286.3(PEX12):c.413G>T (p.Arg138Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001960867]	uncertain significance	17	35577305	35577305	Human	1	name
151867470	CV1516482	single nucleotide variant	NM_000286.3(PEX12):c.830C>T (p.Thr277Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001980886]	uncertain significance	17	35576032	35576032	Human	1	name
155671503	CV1776001	single nucleotide variant	NM_000286.3(PEX12):c.437A>G (p.His146Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002297431]	uncertain significance	17	35577281	35577281	Human	1	name
156048837	CV1868897	single nucleotide variant	NM_000286.3(PEX12):c.857T>C (p.Val286Ala)	Inborn genetic diseases [RCV003052926]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003066751]	uncertain significance	17	35576005	35576005	Human	2	name
155949437	CV1869396	single nucleotide variant	NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003074058]	uncertain significance	17	35576081	35576081	Human	1	name
156392325	CV1869583	single nucleotide variant	NM_000286.3(PEX12):c.979C>T (p.Arg327Cys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003051464]	uncertain significance	17	35575883	35575883	Human	1	name
155946053	CV1875552	single nucleotide variant	NM_000286.3(PEX12):c.415G>A (p.Glu139Lys)	Inborn genetic diseases [RCV004960934]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003073853]	uncertain significance	17	35577303	35577303	Human	2	name
156258252	CV1875555	single nucleotide variant	NM_000286.3(PEX12):c.428A>G (p.Tyr143Cys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003060268]	uncertain significance	17	35577290	35577290	Human	1	name
156118885	CV1877656	single nucleotide variant	NM_000286.3(PEX12):c.947T>G (p.Val316Gly)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003081352]	uncertain significance	17	35575915	35575915	Human	1	name
156377434	CV1878852	single nucleotide variant	NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)	Inborn genetic diseases [RCV003358066]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003066859]	uncertain significance	17	35575990	35575990	Human	2	name
10045120	CV188879	single nucleotide variant	NM_000286.3(PEX12):c.616C>T (p.Gln206Ter)	not provided [RCV000171253]	likely pathogenic	17	35577102	35577102	Human		name
10044985	CV188880	single nucleotide variant	NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)	PEX12-related disorder [RCV004552945]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000679868]\|Peroxisome biogenesis disorder type 3B [RCV000675037]\|not provided [RCV000171254]	pathogenic\|likely pathogenic\|no classifications from unflagged records	17	35577384	35577384	Human	2	name , trait , alternate_id
156030826	CV1893612	single nucleotide variant	NM_000286.3(PEX12):c.546C>G (p.Ile182Met)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003078093]	uncertain significance	17	35577172	35577172	Human	1	name
155932333	CV1919628	single nucleotide variant	NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002615070]	uncertain significance	17	35576035	35576035	Human	1	name
156373175	CV1921046	single nucleotide variant	NM_000286.3(PEX12):c.361G>T (p.Val121Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002603354]	uncertain significance	17	35577357	35577357	Human	1	name
156183573	CV1924609	single nucleotide variant	NM_000286.3(PEX12):c.535C>T (p.Leu179Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002625125]	uncertain significance	17	35577183	35577183	Human	1	name
156381057	CV1927561	single nucleotide variant	NM_000286.3(PEX12):c.889T>G (p.Leu297Val)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002634272]	uncertain significance	17	35575973	35575973	Human	1	name
10051446	CV193407	single nucleotide variant	NM_000286.3(PEX12):c.931C>T (p.Arg311Trp)	Inborn genetic diseases [RCV002516722]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002516723]\|not provided [RCV000177030]	uncertain significance	17	35575931	35575931	Human	2	name
156100673	CV1981951	single nucleotide variant	NM_000286.3(PEX12):c.939T>A (p.Asn313Lys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002622201]	uncertain significance	17	35575923	35575923	Human	1	name
156397835	CV1990755	single nucleotide variant	NM_000286.3(PEX12):c.886C>G (p.Leu296Val)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002605310]	uncertain significance	17	35575976	35575976	Human	1	name
156372590	CV2003575	single nucleotide variant	NM_000286.3(PEX12):c.727G>T (p.Val243Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002653026]	uncertain significance	17	35576135	35576135	Human	1	name
156254434	CV2003652	single nucleotide variant	NM_000286.3(PEX12):c.349A>C (p.Ile117Leu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002627558]	uncertain significance	17	35577369	35577369	Human	1	name
156227921	CV2019516	single nucleotide variant	NM_000286.3(PEX12):c.822G>C (p.Lys274Asn)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002701250]	uncertain significance	17	35576040	35576040	Human	1	name
156044122	CV2026517	single nucleotide variant	NM_000286.3(PEX12):c.760G>A (p.Gly254Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002736291]	uncertain significance	17	35576102	35576102	Human	1	name
155938614	CV2041481	single nucleotide variant	NM_000286.3(PEX12):c.302A>G (p.Gln101Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002775045]	uncertain significance	17	35577416	35577416	Human	1	name
155998060	CV2045375	single nucleotide variant	NM_000286.3(PEX12):c.886C>T (p.Leu296Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002756064]	uncertain significance	17	35575976	35575976	Human	1	name
156280715	CV2049951	single nucleotide variant	NM_000286.3(PEX12):c.599T>C (p.Leu200Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002806981]	uncertain significance	17	35577119	35577119	Human	1	name
156049110	CV2059977	single nucleotide variant	NM_000286.3(PEX12):c.541T>C (p.Tyr181His)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002796705]	uncertain significance	17	35577177	35577177	Human	1	name
155927404	CV2070909	single nucleotide variant	NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002838593]	pathogenic	17	35577339	35577339	Human	1	name
156314778	CV2074783	single nucleotide variant	NM_000286.3(PEX12):c.641A>G (p.Lys214Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002834334]	uncertain significance	17	35577077	35577077	Human	1	name
156223265	CV2080467	single nucleotide variant	NM_000286.3(PEX12):c.544A>C (p.Ile182Leu)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002875952]	uncertain significance	17	35577174	35577174	Human	1	name
156158027	CV2094994	single nucleotide variant	NM_000286.3(PEX12):c.740T>C (p.Leu247Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002890879]	uncertain significance	17	35576122	35576122	Human	1	name
156158433	CV2095020	single nucleotide variant	NM_000286.3(PEX12):c.980G>A (p.Arg327His)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002890894]	uncertain significance	17	35575882	35575882	Human	1	name
156221695	CV2107352	single nucleotide variant	NM_000286.3(PEX12):c.635A>G (p.Glu212Gly)	PEX12-related disorder [RCV004548400]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002918592]	likely benign\|uncertain significance	17	35577083	35577083	Human	1	name , trait , alternate_id
156099372	CV2132208	single nucleotide variant	NM_000286.3(PEX12):c.727G>A (p.Val243Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003002154]	uncertain significance	17	35576135	35576135	Human	1	name
155999375	CV2149220	single nucleotide variant	NM_000286.3(PEX12):c.844C>G (p.Pro282Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002996943]	uncertain significance	17	35576018	35576018	Human	1	name
156259827	CV2159443	single nucleotide variant	NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003026622]	uncertain significance	17	35577344	35577344	Human	1	name
156314465	CV2160709	single nucleotide variant	NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003046219]	pathogenic\|likely pathogenic	17	35577175	35577175	Human	1	name
155949448	CV2164820	single nucleotide variant	NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003032351]	uncertain significance	17	35577194	35577194	Human	1	name
156272542	CV2187493	single nucleotide variant	NM_000286.3(PEX12):c.398T>C (p.Leu133Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003044503]	uncertain significance	17	35577320	35577320	Human	1	name
8560096	CV22812	single nucleotide variant	NM_000286.3(PEX12):c.691A>T (p.Lys231Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000008215]	pathogenic	17	35576171	35576171	Human	1	name
8560097	CV22813	single nucleotide variant	NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)	Peroxisomal biogenesis disorder 3b [RCV000032926]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000008216]\|Peroxisome biogenesis disorder [RCV001193474]\|Peroxisome biogenesis disorder type 3B [RCV000666018]	pathogenic	17	35577180	35577180	Human	3	name
8560098	CV22814	single nucleotide variant	NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)	Peroxisomal biogenesis disorder 3b [RCV000008217]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000625796]\|Peroxisome biogenesis disorder [RCV002281700]\|Peroxisome biogenesis disorder type 3B [RCV005394138]\|not provided [RCV000415755]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	35575903	35575903	Human	3	name
8560102	CV22818	single nucleotide variant	NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)	Peroxisomal biogenesis disorder 3b [RCV000008221]\|Peroxisome biogenesis disorder type 3B [RCV000675048]	pathogenic\|uncertain significance	17	35575913	35575913	Human	1	name
11632902	CV264766	duplication	NM_000286.3(PEX12):c.51_54dup (p.Ser19fs)	not provided [RCV000295850]	pathogenic	17	35577967	35577968	Human		name
11577464	CV267626	single nucleotide variant	NM_000286.3(PEX12):c.349A>G (p.Ile117Val)	Peroxisome biogenesis disorder 1A (Zellweger) [RCV000260746]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002521897]\|Peroxisome biogenesis disorder type 3B [RCV000667830]\|not provided [RCV000379331]	uncertain significance	17	35577369	35577369	Human	3	name
401749780	CV2694747	single nucleotide variant	NM_000286.3(PEX12):c.845C>T (p.Pro282Leu)	Inborn genetic diseases [RCV003253422]	uncertain significance	17	35576017	35576017	Human	1	name
11636809	CV269779	single nucleotide variant	NM_000286.3(PEX12):c.452G>A (p.Arg151His)	Inborn genetic diseases [RCV002521937]\|PEX12-related disorder [RCV004547702]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001080036]\|not provided [RCV000275125]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	35577266	35577266	Human	2	name , trait , alternate_id
11580142	CV271584	single nucleotide variant	NM_000286.3(PEX12):c.722G>T (p.Gly241Val)	PEX12-related disorder [RCV004549596]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001083308]\|not provided [RCV000287024]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	35576140	35576140	Human	1	name , trait , alternate_id
11640757	CV273787	single nucleotide variant	NM_000286.3(PEX12):c.763G>A (p.Val255Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001850453]\|not provided [RCV000343654]	uncertain significance	17	35576099	35576099	Human	1	name
405081610	CV2905162	single nucleotide variant	NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003535211]	pathogenic	17	35576087	35576087	Human	1	name
405094546	CV2909209	single nucleotide variant	NM_000286.3(PEX12):c.586G>C (p.Ala196Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536777]	uncertain significance	17	35577132	35577132	Human	1	name
405023895	CV2994399	single nucleotide variant	NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)	PEX12-related disorder [RCV004554281]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651174]	pathogenic\|likely pathogenic	17	35577149	35577149	Human	1	name , trait , alternate_id
405024585	CV2998667	single nucleotide variant	NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651238]	pathogenic	17	35577263	35577263	Human	1	name
405043071	CV3029391	single nucleotide variant	NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653826]	pathogenic	17	35575972	35575972	Human	1	name
405745642	CV3368468	single nucleotide variant	NM_000286.3(PEX12):c.416A>G (p.Glu139Gly)	Inborn genetic diseases [RCV004498366]	uncertain significance	17	35577302	35577302	Human	1	name
405745651	CV3368469	single nucleotide variant	NM_000286.3(PEX12):c.622A>G (p.Ile208Val)	Inborn genetic diseases [RCV004498367]	uncertain significance	17	35577096	35577096	Human	1	name
11631224	CV345587	single nucleotide variant	NM_000286.3(PEX12):c.353T>C (p.Met118Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000371870]\|Peroxisome biogenesis disorder type 3B [RCV000672165]	uncertain significance	17	35577365	35577365	Human	2	name
407464116	CV3470706	single nucleotide variant	NM_000286.3(PEX12):c.789G>T (p.Trp263Cys)	Inborn genetic diseases [RCV004659869]	uncertain significance	17	35576073	35576073	Human	1	name
408370239	CV3508410	single nucleotide variant	NM_000286.3(PEX12):c.790T>C (p.Trp264Arg)	PEX12-related disorder [RCV004739118]	uncertain significance	17	35576072	35576072	Human		name , trait , alternate_id
597713636	CV3575698	single nucleotide variant	NM_000286.3(PEX12):c.923G>A (p.Arg308His)	Inborn genetic diseases [RCV004959466]	uncertain significance	17	35575939	35575939	Human	1	name
597713645	CV3575699	single nucleotide variant	NM_000286.3(PEX12):c.449C>G (p.Ser150Cys)	Inborn genetic diseases [RCV004959467]	uncertain significance	17	35577269	35577269	Human	1	name
597937404	CV3774684	single nucleotide variant	NM_000286.3(PEX12):c.808C>T (p.Gln270Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005117717]	pathogenic	17	35576054	35576054	Human	1	name
597900127	CV3835302	single nucleotide variant	NM_000286.3(PEX12):c.526G>A (p.Val176Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005181023]	uncertain significance	17	35577192	35577192	Human	1	name
598261845	CV3999667	single nucleotide variant	NM_000286.3(PEX12):c.412A>G (p.Arg138Gly)	Inborn genetic diseases [RCV005386970]	uncertain significance	17	35577306	35577306	Human	1	name
598196753	CV3999668	single nucleotide variant	NM_000286.3(PEX12):c.584T>G (p.Leu195Arg)	Inborn genetic diseases [RCV005397765]	uncertain significance	17	35577134	35577134	Human	1	name
598261848	CV3999669	single nucleotide variant	NM_000286.3(PEX12):c.628G>C (p.Ala210Pro)	Inborn genetic diseases [RCV005386971]	uncertain significance	17	35577090	35577090	Human	1	name
13523799	CV491940	single nucleotide variant	NM_000286.3(PEX12):c.352A>G (p.Met118Val)	Inborn genetic diseases [RCV003372764]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001365902]\|Peroxisome biogenesis disorder type 3B [RCV002491207]\|not provided [RCV000593454]	uncertain significance	17	35577366	35577366	Human	3	name
13516506	CV492967	single nucleotide variant	NM_000286.3(PEX12):c.739C>G (p.Leu247Val)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002532602]\|not provided [RCV000595610]	uncertain significance	17	35576123	35576123	Human	1	name
13516037	CV494094	single nucleotide variant	NM_000286.3(PEX12):c.422A>G (p.Asp141Gly)	not provided [RCV000595021]	uncertain significance	17	35577296	35577296	Human		name
13516404	CV494107	single nucleotide variant	NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)	Inborn genetic diseases [RCV004024866]\|PEX12-related disorder [RCV004740362]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002532678]\|Peroxisome biogenesis disorder type 3B [RCV000765347]\|not provided [RCV000595486]\|not specified [RCV000781712]	uncertain significance	17	35576125	35576125	Human	3	name , trait , alternate_id
13791528	CV548051	single nucleotide variant	NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)	Peroxisome biogenesis disorder type 3B [RCV000667563]	likely pathogenic	17	35575884	35575884	Human	1	name
13791877	CV548057	single nucleotide variant	NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003472093]\|Peroxisome biogenesis disorder type 3B [RCV000668008]	likely pathogenic	17	35577054	35577054	Human	2	name
13790677	CV548072	single nucleotide variant	NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)	PEX12-related disorder [RCV004547837]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003534546]\|Peroxisome biogenesis disorder type 3B [RCV000666724]	pathogenic\|likely pathogenic	17	35577258	35577258	Human	2	name , trait , alternate_id
13790556	CV548075	single nucleotide variant	NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001237704]\|Peroxisome biogenesis disorder type 3B [RCV000666647]	pathogenic\|likely pathogenic	17	35576073	35576073	Human	2	name
13786699	CV548076	deletion	NM_000286.3(PEX12):c.88_89del (p.Met30fs)	Peroxisome biogenesis disorder type 3B [RCV000673039]	likely pathogenic	17	35577933	35577934	Human	1	name
13784904	CV548348	single nucleotide variant	NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000819199]\|Peroxisome biogenesis disorder [RCV000781711]\|Peroxisome biogenesis disorder type 3B [RCV000671389]	pathogenic\|likely pathogenic	17	35577093	35577093	Human	3	name
13790724	CV548350	single nucleotide variant	NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001390433]\|Peroxisome biogenesis disorder type 3B [RCV000666766]	pathogenic\|likely pathogenic	17	35577114	35577114	Human	2	name
13784783	CV548810	deletion	NM_000286.3(PEX12):c.1023del (p.Thr342fs)	Peroxisome biogenesis disorder type 3B [RCV000671270]	uncertain significance	17	35575839	35575839	Human	1	name
13833126	CV584354	single nucleotide variant	NM_000286.3(PEX12):c.811G>A (p.Glu271Lys)	not provided [RCV000728287]	uncertain significance	17	35576051	35576051	Human		name
13833977	CV585217	single nucleotide variant	NM_000286.3(PEX12):c.676A>G (p.Arg226Gly)	not provided [RCV000729373]	uncertain significance	17	35577042	35577042	Human		name
13833983	CV585223	single nucleotide variant	NM_000286.3(PEX12):c.655A>G (p.Ser219Gly)	Inborn genetic diseases [RCV004649300]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002533104]\|not provided [RCV000729380]	uncertain significance	17	35577063	35577063	Human	2	name
13835153	CV586410	single nucleotide variant	NM_000286.3(PEX12):c.688G>A (p.Glu230Lys)	not provided [RCV000730872]	uncertain significance	17	35576174	35576174	Human		name
13836634	CV587911	single nucleotide variant	NM_000286.3(PEX12):c.456G>T (p.Trp152Cys)	not provided [RCV000732812]	uncertain significance	17	35577262	35577262	Human		name
13836919	CV588202	single nucleotide variant	NM_000286.3(PEX12):c.322C>T (p.Leu108Phe)	not provided [RCV000733171]	uncertain significance	17	35577396	35577396	Human		name
15182631	CV715384	single nucleotide variant	NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000974679]\|not provided [RCV001575602]\|not specified [RCV001805945]	benign\|likely benign	17	35576129	35576129	Human	1	name
26911566	CV845235	single nucleotide variant	NM_000286.3(PEX12):c.997G>T (p.Val333Leu)	Inborn genetic diseases [RCV002553048]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001038818]	uncertain significance	17	35575865	35575865	Human	2	name
26906378	CV845236	single nucleotide variant	NM_000286.3(PEX12):c.905C>T (p.Thr302Ile)	Inborn genetic diseases [RCV003283905]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001051700]	uncertain significance	17	35575957	35575957	Human	2	name
26910522	CV845237	single nucleotide variant	NM_000286.3(PEX12):c.758T>C (p.Val253Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001038648]	uncertain significance	17	35576104	35576104	Human	1	name
26906725	CV845238	single nucleotide variant	NM_000286.3(PEX12):c.442C>T (p.Pro148Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001051873]	uncertain significance	17	35577276	35577276	Human	1	name
26909342	CV845239	single nucleotide variant	NM_000286.3(PEX12):c.335A>G (p.Gln112Arg)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001038495]	uncertain significance	17	35577383	35577383	Human	1	name
26902788	CV845240	single nucleotide variant	NM_000286.3(PEX12):c.306A>T (p.Arg102Ser)	Inborn genetic diseases [RCV002555914]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001071991]	uncertain significance	17	35577412	35577412	Human	2	name
28901123	CV877271	single nucleotide variant	NM_000286.3(PEX12):c.856G>A (p.Val286Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124644]\|Peroxisome biogenesis disorder type 3B [RCV002482239]	uncertain significance	17	35576006	35576006	Human	2	name
28901126	CV877272	single nucleotide variant	NM_000286.3(PEX12):c.793T>C (p.Tyr265His)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124645]	uncertain significance	17	35576069	35576069	Human	1	name
34891490	CV906153	single nucleotide variant	NM_000286.3(PEX12):c.430T>C (p.Ser144Pro)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001175104]	uncertain significance	17	35577288	35577288	Human	1	name
38462747	CV919725	single nucleotide variant	NM_000286.3(PEX12):c.571C>A (p.Pro191Thr)	Peroxisome biogenesis disorder type 3B [RCV001198670]	uncertain significance	17	35577147	35577147	Human	1	name
38486737	CV928236	single nucleotide variant	NM_000286.3(PEX12):c.565C>T (p.His189Tyr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001220428]	uncertain significance	17	35577153	35577153	Human	1	name
38462771	CV937894	single nucleotide variant	NM_000286.3(PEX12):c.539G>A (p.Arg180Gln)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001212248]	uncertain significance	17	35577179	35577179	Human	1	name
38478171	CV937895	single nucleotide variant	NM_000286.3(PEX12):c.538C>G (p.Arg180Gly)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001205430]	uncertain significance	17	35577180	35577180	Human	1	name
38476439	CV937896	single nucleotide variant	NM_000286.3(PEX12):c.421G>A (p.Asp141Asn)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001204656]	uncertain significance	17	35577297	35577297	Human	1	name
38464614	CV937897	single nucleotide variant	NM_000286.3(PEX12):c.305G>C (p.Arg102Thr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001212516]	uncertain significance	17	35577413	35577413	Human	1	name
38492266	CV958087	single nucleotide variant	NM_000286.3(PEX12):c.680G>A (p.Ser227Asn)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001239976]	uncertain significance	17	35577038	35577038	Human	1	name
38492527	CV958088	single nucleotide variant	NM_000286.3(PEX12):c.661A>G (p.Met221Val)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001240135]	uncertain significance	17	35577057	35577057	Human	1	name
8639699	CV98681	single nucleotide variant	NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)	Inborn genetic diseases [RCV002515755]\|PEX12-related disorder [RCV004549499]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000970690]\|not provided [RCV001729380]\|not specified [RCV000078561]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	35577267	35577267	Human	2	name , trait , alternate_id
126757683	CV997507	single nucleotide variant	NM_000286.3(PEX12):c.601G>T (p.Gly201Cys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001308495]	uncertain significance	17	35577117	35577117	Human	1	name
126771611	CV1033235	single nucleotide variant	NM_000286.3(PEX12):c.1021A>T (p.Ile341Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001345147]	uncertain significance	17	35575841	35575841	Human	1	name
150551593	CV1297456	single nucleotide variant	NM_000286.3(PEX12):c.1042G>A (p.Val348Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002032846]\|not provided [RCV001767139]	uncertain significance	17	35575820	35575820	Human	1	name
150535200	CV1311808	single nucleotide variant	NM_000286.3(PEX12):c.1022T>A (p.Ile341Asn)	not provided [RCV001779618]	uncertain significance	17	35575840	35575840	Human		name
151890614	CV1350594	single nucleotide variant	NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr)	Inborn genetic diseases [RCV004956195]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002038861]	uncertain significance	17	35575850	35575850	Human	2	name
151780318	CV1358166	single nucleotide variant	NM_000286.3(PEX12):c.1060C>G (p.Leu354Val)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001930376]	uncertain significance	17	35575802	35575802	Human	1	name
151810778	CV1375136	single nucleotide variant	NM_000286.3(PEX12):c.1006C>T (p.His336Tyr)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001933179]	uncertain significance	17	35575856	35575856	Human	1	name
151789459	CV1434493	single nucleotide variant	NM_000286.3(PEX12):c.1060C>T (p.Leu354Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001876367]	uncertain significance	17	35575802	35575802	Human	1	name
151805271	CV1440455	single nucleotide variant	NM_000286.3(PEX12):c.1027G>A (p.Gly343Ser)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001918086]	uncertain significance	17	35575835	35575835	Human	1	name
151724742	CV1496674	single nucleotide variant	NM_000286.3(PEX12):c.1008C>A (p.His336Gln)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001910191]	uncertain significance	17	35575854	35575854	Human	1	name
156249768	CV1969700	single nucleotide variant	NM_000286.3(PEX12):c.1025C>T (p.Thr342Ile)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002597431]	uncertain significance	17	35575837	35575837	Human	1	name
155916318	CV2029742	single nucleotide variant	NM_000286.3(PEX12):c.1067C>T (p.Ser356Phe)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002750485]	uncertain significance	17	35575795	35575795	Human	1	name
156210302	CV2036832	single nucleotide variant	NM_000286.3(PEX12):c.1021A>G (p.Ile341Val)	PEX12-related disorder [RCV004548369]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002790217]	uncertain significance	17	35575841	35575841	Human	1	name , trait , alternate_id
156197738	CV2083192	single nucleotide variant	NM_000286.3(PEX12):c.1024A>G (p.Thr342Ala)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002852352]	uncertain significance	17	35575838	35575838	Human	1	name
401902119	CV2804211	single nucleotide variant	NM_000286.3(PEX12):c.1003A>C (p.Ser335Arg)	PEX12-related disorder [RCV004552537]	uncertain significance	17	35575859	35575859	Human		name , trait , alternate_id
405745634	CV3368467	single nucleotide variant	NM_000286.3(PEX12):c.1005T>A (p.Ser335Arg)	Inborn genetic diseases [RCV004498365]	uncertain significance	17	35575857	35575857	Human	1	name
13477962	CV445758	single nucleotide variant	NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001378080]\|Peroxisome biogenesis disorder type 3B [RCV000674819]\|not provided [RCV000520537]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	17	35575853	35575853	Human	2	name
151838433	CV1487394	deletion	NM_000286.3(PEX12):c.151_154del (p.His51fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001935814]	pathogenic	17	35577564	35577567	Human	1	name
156192208	CV2146254	deletion	NM_000286.3(PEX12):c.268_269del (p.Lys90fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003006038]	pathogenic	17	35577449	35577450	Human	1	name
597951609	CV3798377	duplication	NM_000286.3(PEX12):c.259_260dup (p.Gly88fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005136157]	pathogenic	17	35577457	35577458	Human	1	name
13516810	CV493070	deletion	NM_000286.3(PEX12):c.268_271del (p.Lys90fs)	PEX12-related disorder [RCV003336090]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000690109]\|Peroxisome biogenesis disorder [RCV000781708]\|Peroxisome biogenesis disorder type 3B [RCV000665252]\|not provided [RCV000595990]	pathogenic\|likely pathogenic	17	35577447	35577450	Human	3	name , trait , alternate_id
13704812	CV539070	microsatellite	NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000662038]\|Peroxisome biogenesis disorder [RCV000662039]\|Peroxisome biogenesis disorder type 3B [RCV000671429]	uncertain significance	17	35577512	35577514	Human		name
13787389	CV548356	deletion	NM_000286.3(PEX12):c.223_224del (p.Leu75fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001387645]\|Peroxisome biogenesis disorder type 3B [RCV000664813]	pathogenic\|likely pathogenic	17	35577494	35577495	Human	2	name
13782597	CV548361	deletion	NM_000286.3(PEX12):c.190_194del (p.Thr64fs)	Peroxisome biogenesis disorder type 3B [RCV000669057]	likely pathogenic	17	35577524	35577528	Human	1	name
127264567	CV1064146	microsatellite	NM_000286.3(PEX12):c.969_970del (p.Phe324fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001381260]	pathogenic\|likely pathogenic	17	35575892	35575893	Human		name
127262772	CV1064147	microsatellite	NM_000286.3(PEX12):c.920_921del (p.Cys307fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001380807]	pathogenic\|likely pathogenic	17	35575941	35575942	Human		name
127266394	CV1064148	microsatellite	NM_000286.3(PEX12):c.910_911del (p.Cys304fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001381697]\|Peroxisome biogenesis disorder [RCV004017827]\|not provided [RCV001820082]	pathogenic\|likely pathogenic	17	35575951	35575952	Human		name
151874009	CV1356465	microsatellite	NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001925581]	uncertain significance	17	35576089	35576091	Human		name
151806216	CV1453408	microsatellite	NM_000286.3(PEX12):c.305_306del (p.Arg102fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001877826]	pathogenic	17	35577412	35577413	Human		name
155990643	CV2133731	deletion	NM_000286.3(PEX12):c.207_209del (p.Leu70del)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002996551]	uncertain significance	17	35577509	35577511	Human	1	name
401950372	CV2834809	duplication	NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476797]\|Peroxisome biogenesis disorder type 3B [RCV005012965]	pathogenic\|likely pathogenic	17	35577143	35577144	Human	2	name
405014993	CV2965365	deletion	NM_000286.3(PEX12):c.611_612del (p.Thr204fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649728]	pathogenic	17	35577106	35577107	Human	1	name
405032752	CV3003446	deletion	NM_000286.3(PEX12):c.829_832del (p.Thr277fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003652366]	pathogenic	17	35576030	35576033	Human	1	name
405870957	CV3399073	deletion	NM_000286.3(PEX12):c.301_302del (p.Gln101fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV004574504]	likely pathogenic	17	35577416	35577417	Human	1	name
12738968	CV358425	duplication	NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)	PEX12-related disorder [RCV003335311]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000410995]\|Peroxisome biogenesis disorder [RCV000781710]\|Peroxisome biogenesis disorder type 3B [RCV000409475]\|not provided [RCV000728570]	pathogenic\|likely pathogenic	17	35576128	35576129	Human	3	name , trait , alternate_id
12738606	CV358426	deletion	NM_000286.3(PEX12):c.684_687del (p.Ser229fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000410147]\|Peroxisome biogenesis disorder type 3B [RCV000412130]	pathogenic\|likely pathogenic	17	35576175	35576178	Human	2	name
12791822	CV362280	duplication	NM_000286.3(PEX12):c.765_766dup (p.Phe256fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000416562]	pathogenic	17	35576095	35576096	Human	1	name
12850019	CV364154	microsatellite	NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001861489]\|Peroxisome biogenesis disorder type 3B [RCV000672446]\|Peroxisome biogenesis disorder type 3B [RCV000989843]\|not provided [RCV000440158]\|not specified [RCV002282136]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	35577348	35577350	Human		name
597715825	CV3708922	deletion	NM_000286.3(PEX12):c.916_917del (p.Leu306fs)	Peroxisome biogenesis disorder type 3B [RCV005010199]	likely pathogenic	17	35575945	35575946	Human	1	name
597715837	CV3708923	microsatellite	NM_000286.3(PEX12):c.910_911dup (p.Pro305fs)	Peroxisome biogenesis disorder type 3B [RCV005010200]	likely pathogenic	17	35575950	35575951	Human		name
597965114	CV3826805	deletion	NM_000286.3(PEX12):c.965_966del (p.Tyr322fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005164834]	pathogenic	17	35575896	35575897	Human	1	name
13215214	CV430999	microsatellite	NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000502221]\|Peroxisome biogenesis disorder [RCV003403180]\|Peroxisome biogenesis disorder type 3B [RCV000670939]	pathogenic\|likely pathogenic	17	35577183	35577185	Human		name
13790196	CV548053	deletion	NM_000286.3(PEX12):c.961_964del (p.Gly321fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001382391]\|Peroxisome biogenesis disorder type 3B [RCV000674917]	pathogenic\|likely pathogenic	17	35575898	35575901	Human	2	name
13791481	CV548083	deletion	NM_000286.3(PEX12):c.687_690del (p.Ser229fs)	Peroxisome biogenesis disorder type 3B [RCV000667506]	likely pathogenic	17	35576172	35576175	Human	1	name
13788851	CV548337	microsatellite	NM_000286.3(PEX12):c.987_988del (p.Phe330fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001239384]\|Peroxisome biogenesis disorder [RCV003226365]\|Peroxisome biogenesis disorder type 3B [RCV000674189]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	17	35575874	35575875	Human		name
14690943	CV621562	deletion	NM_000286.3(PEX12):c.445_454del (p.Ser149fs)	Peroxisome biogenesis disorder [RCV000781713]	likely pathogenic	17	35577264	35577273	Human	1	name
8639701	CV98683	microsatellite	NM_000286.3(PEX12):c.888_889del (p.Leu297fs)	Inborn genetic diseases [RCV002514382]\|PEX12-related disorder [RCV004739344]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000412263]\|Peroxisome biogenesis disorder [RCV000586945]\|Peroxisome biogenesis disorder type 3B [RCV000410739]\|Peroxisome biogenesis di ... (more) sorder type 3B [RCV002477223]\|not provided [RCV000078563]	pathogenic	17	35575973	35575974	Human		name , trait , alternate_id
13785417	CV548808	microsatellite	NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001378694]\|Peroxisome biogenesis disorder type 3B [RCV000671986]\|Peroxisome biogenesis disorder type 3B [RCV002250679]	pathogenic\|likely pathogenic	17	35575813	35575815	Human		name
13838090	CV589385	duplication	NM_000286.3(PEX12):c.609_611dup (p.Thr204dup)	not provided [RCV000734692]	uncertain significance	17	35577106	35577107	Human		name
127247511	CV1056415	deletion	NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001377791]	pathogenic\|likely pathogenic	17	35575822	35575823	Human	1	name
127236763	CV1064151	insertion	NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001382682]\|not provided [RCV001507378]	pathogenic\|likely pathogenic	17	35577457	35577458	Human	1	name
401950373	CV2834810	insertion	NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476798]	likely pathogenic	17	35575985	35575986	Human	1	name
13785907	CV548807	deletion	NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs)	Peroxisome biogenesis disorder type 3B [RCV000672360]	uncertain significance	17	35575791	35575792	Human	1	name
405870961	CV3399071	deletion	NM_000286.3(PEX12):c.4_5del (p.Met1_Ala2insTer)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV004574502]	likely pathogenic	17	35578017	35578018	Human	1	name
13786017	CV548821	deletion	NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del)	Peroxisome biogenesis disorder type 3B [RCV000672478]	uncertain significance	17	35577981	35578004	Human	1	name
155981797	CV2070155	deletion	NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV002842557]	pathogenic	17	35577936	35577936	Human	1	name
401856343	CV2752442	indel	NM_000286.3(PEX12):c.106_107delinsAT (p.Ala36Ile)	Peroxisome biogenesis disorder type 3B [RCV003340780]	uncertain significance	17	35577915	35577916	Human		name
13792177	CV548079	duplication	NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001868221]\|Peroxisome biogenesis disorder type 3B [RCV000668380]	pathogenic\|likely pathogenic	17	35577945	35577946	Human	2	name
38481692	CV937899	deletion	NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001206889]	pathogenic	17	35577959	35577960	Human	1	name
8639702	CV98684	deletion	NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)	PEX12-related disorder [RCV004724797]\|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001854382]\|Peroxisome biogenesis disorder type 3B [RCV000669619]\|not provided [RCV000078564]	pathogenic\|likely pathogenic	17	35575968	35575968	Human	2	name , trait , alternate_id
151833536	CV1348303	duplication	NM_000286.3(PEX12):c.391_408dup (p.Glu131_Ser136dup)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001880536]	uncertain significance	17	35577309	35577310	Human	1	name
13791582	CV548056	deletion	NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV005056405]\|Peroxisome biogenesis disorder type 3B [RCV000667630]	uncertain significance	17	35575992	35575997	Human	2	name
13782945	CV548092	deletion	NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001861777]\|Peroxisome biogenesis disorder type 3B [RCV000669505]\|not provided [RCV005241391]	uncertain significance	17	35577318	35577326	Human	2	name
13788991	CV548819	duplication	NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV001035823]\|Peroxisome biogenesis disorder type 3B [RCV000665716]\|not provided [RCV000728569]	uncertain significance	17	35577533	35577534	Human	2	name
156344500	CV1871617	microsatellite	NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003064438]	pathogenic	17	35575986	35575987	Human		name
13788416	CV548080	deletion	NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly)	Peroxisome biogenesis disorder 3A (Zellweger) [RCV000705464]\|Peroxisome biogenesis disorder type 3B [RCV000665361]	uncertain significance	17	35576075	35576077	Human	2	name
13791972	CV548090	inversion	NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)	Peroxisome biogenesis disorder type 3B [RCV000668131]	likely pathogenic	17	35577287	35577289	Human		name

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