MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: infantile Refsum disease (MONDO:0019174)
Parent Node: neonatal adrenoleukodystrophy (MONDO:0018598)
..Starting node ..peroxisome biogenesis disorder 2B ()
Child Nodes:
Sister Nodes:
..peroxisome biogenesis disorder 11B ()
..peroxisome biogenesis disorder 14B ()
..peroxisome biogenesis disorder 2B ()
..peroxisome biogenesis disorder 4B ()
..peroxisome biogenesis disorder 5B ()
..peroxisome biogenesis disorder 6B ()
..peroxisome biogenesis disorder 7B ()
..peroxisome biogenesis disorder 8B ()
..peroxisome biogenesis disorder type 3B ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8736

Name:

peroxisome biogenesis disorder 2B

Definition:

Alternative IDs:

202370

ParentIDs:

TreeNumbers:

Synonyms:

PBD2B; peroxisome biogenesis disorder 2B; peroxisome biogenesis disorder 2B; PBD2B; peroxisome biogenesis disorder type 2B

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 202370;
MSeqDR :
Genes: PEX5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0000846	Adrenal insufficiency
4	HP:0000463	Anteverted nares
5	HP:0000268	Dolichocephaly
6	HP:0003455	Elevated long chain fatty acids
7	HP:0000286	Epicanthus
8	HP:0000565	Esotropia
9	HP:0002007	Frontal bossing
10	HP:0000218	High palate
11	HP:0002705	High, narrow palate
12	HP:0001249	Intellectual disability
13	HP:0000369	Low-set ears
14	HP:0010696	Polar cataract	Neonatal onset
15	HP:0001250	Seizures NAMDC: Seizures
16	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)	215	ABCD1	Uncertain significance	-1	RCV002289118;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	X	152991385	152991385	152991385	-
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter)	5830	PEX5	Pathogenic/Likely pathogenic	1565673352	RCV000760578\|RCV000795747;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344209	7344209	NC_000012.11:g.7344209G>T	-
NM_001351132.2(PEX5):c.552-1G>A	5830	PEX5	Pathogenic/Likely pathogenic	1064793563	RCV000481246\|RCV002526533;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354346	7354346	12:g.7354346G>A	ClinGen:CA16619587	CN517202 not provided;
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	5830	PEX5	Pathogenic/Likely pathogenic	61752138	RCV000009714\|RCV000427819\|RCV000723322;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:CN517202\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7362296	7362296	12:g.7362296T>G	ClinGen:CA254664,OMIM:600414.0001	C0282525 202370 Neonatal adrenoleucodystrophy;
NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)	5830	PEX5	Pathogenic	-1	RCV003008926;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343026	7343027	NC_000012.11:g.7343027_7343042dup	-
NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)	5830	PEX5	Pathogenic	-1	RCV002877141;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343049	7343049	NC_000012.11:g.7343049C>T	-
NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter)	5830	PEX5	Pathogenic	2135879026	RCV001960744;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343092	7343092	7343092	-
NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter)	5830	PEX5	Pathogenic	1941140792	RCV001208551;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344206	7344206	12:g.7344206C>T	-
NM_001351132.2(PEX5):c.416_419del (p.Asp139fs)	5830	PEX5	Pathogenic	-1	RCV002819690;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344259	7344262	NC_000012.11:g.7344260ACTG[1]	-
NM_001351132.2(PEX5):c.472del (p.Arg158fs)	5830	PEX5	Pathogenic	2136074154	RCV001975087;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351628	7351628	7351627	-
NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter)	5830	PEX5	Pathogenic	-1	RCV002812136;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351658	7351658	NC_000012.11:g.7351658C>G	-
NM_001351132.2(PEX5):c.531_534dup (p.Thr179fs)	5830	PEX5	Pathogenic	2136075415	RCV001388188;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351686	7351687	7351686	-
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter)	5830	PEX5	Pathogenic	1419213790	RCV002273017;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354347	7354347	7354347	-
NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter)	5830	PEX5	Pathogenic	890363450	RCV001951290;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354378	7354378	7354378	-
NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter)	5830	PEX5	Pathogenic	777733574	RCV001213622;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354903	7354903	12:g.7354903C>T	-
NM_001351132.2(PEX5):c.737_738del (p.Glu246fs)	5830	PEX5	Pathogenic	-1	RCV003061180;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354929	7354930	NC_000012.11:g.7354929AG[1]	-
NM_001351132.2(PEX5):c.808dup (p.Leu270fs)	5830	PEX5	Pathogenic	2136158689	RCV001901996;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355259	7355260	7355259	-
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)	5830	PEX5	Pathogenic	-1	RCV003037442;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355280	7355280	NC_000012.11:g.7355280C>T	-
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)	5830	PEX5	Pathogenic	-1	RCV002595253;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356124	7356125	NC_000012.11:g.7356125_7356126dup	-
NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter)	5830	PEX5	Pathogenic	1300934931	RCV001953424;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361126	7361126	7361126	-
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)	5830	PEX5	Pathogenic	777735499	RCV002037839;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361129	7361129	7361129	-
NM_001351132.2(PEX5):c.1264dup (p.Ala422fs)	5830	PEX5	Pathogenic	1374334296	RCV001975197;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361133	7361134	7361133	-
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)	5830	PEX5	Pathogenic	61752137	RCV000009715\|RCV000483391\|RCV001381490;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361150	7361150	12:g.7361150C>T	ClinGen:CA120141,OMIM:600414.0002	CN517202 not provided;
NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs)	5830	PEX5	Pathogenic	-1	RCV003000217;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361189	7361190	NC_000012.11:g.7361190_7361191del	-
NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs)	5830	PEX5	Pathogenic	-1	RCV002910001;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361226	7361227	NC_000012.11:g.7361226_7361227del	-
NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs)	5830	PEX5	Pathogenic	2136243209	RCV001385066;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361675	7361676	7361675	-
NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs)	5830	PEX5	Pathogenic	1731078730	RCV001382932;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361726	7361732	7361725	-
NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter)	5830	PEX5	Pathogenic	2136254746	RCV001952086;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362292	7362292	7362292	-
NM_001351132.2(PEX5):c.135_147+33delinsC	5830	PEX5	Likely pathogenic	2135880243	RCV001995359\|RCV002497920;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717	12	7343108	7343153	7343108	-
NM_001351132.2(PEX5):c.147+4A>G	5830	PEX5	Likely pathogenic	-1	RCV003333369\|RCV003333367\|RCV003333368;	N	MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7343124	7343124		-
NM_001351132.2(PEX5):c.317-2A>G	5830	PEX5	Likely pathogenic	2135903939	RCV002014359;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344163	7344163	7344163	-
NM_001351132.2(PEX5):c.753+2T>C	5830	PEX5	Likely pathogenic	-1	RCV003106950;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354949	7354949	NC_000012.11:g.7354949T>C	-
NM_001351132.2(PEX5):c.754-2A>C	5830	PEX5	Likely pathogenic	-1	RCV003076785;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355206	7355206	NC_000012.11:g.7355206A>C	-
NM_001351132.2(PEX5):c.847-7_861del	5830	PEX5	Likely pathogenic	-1	RCV002833749;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356018	7356039	NC_000012.11:g.7356021_7356042del	-
NM_001351132.2(PEX5):c.847-2A>G	5830	PEX5	Likely pathogenic	-1	RCV003121401\|RCV003235778;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:C3661900	12	7356026	7356026	NC_000012.11:g.7356026A>G	-
NM_001351132.2(PEX5):c.966+1G>C	5830	PEX5	Likely pathogenic	2136176386	RCV002000238;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356148	7356148	7356148	-
NM_001351132.2(PEX5):c.1561-2A>G	5830	PEX5	Likely pathogenic	2136254229	RCV002017089;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362277	7362277	7362277	-
NC_000012.11:g.(?_6438458)_(7362839_?)dup	5830	PEX5	Uncertain significance	-1	RCV001031288;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	6438458	7362839	-1	-
NC_000012.11:g.(?_6978008)_(9010204_?)dup	5830	PEX5	Uncertain significance	-1	RCV001877402;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	6978008	9010204	-1	-
NM_001351132.2(PEX5):c.1A>G (p.Met1Val)	5830	PEX5	Uncertain significance	2135875571	RCV001892659;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7342974	7342974	7342974	-
NC_000012.11:g.(?_7342974)_(7362819_?)dup	5830	PEX5	Uncertain significance	-1	RCV003105490;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7342974	7362819		-
NM_001351132.2(PEX5):c.12G>A (p.Arg4=)	5830	PEX5	Likely benign	-1	RCV002695760;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7342985	7342985		-
NM_001351132.2(PEX5):c.15G>A (p.Glu5=)	5830	PEX5	Likely benign	2135875866	RCV002099480;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7342988	7342988	7342988	-
NM_001351132.2(PEX5):c.17T>C (p.Leu6Pro)	5830	PEX5	Uncertain significance	1245227342	RCV001993994;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7342990	7342990	7342990	-
NM_001351132.2(PEX5):c.20T>C (p.Val7Ala)	5830	PEX5	Uncertain significance	-1	RCV002994445;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7342993	7342993	NC_000012.11:g.7342993T>C	-
NM_001351132.2(PEX5):c.24G>T (p.Glu8Asp)	5830	PEX5	Uncertain significance	1488661702	RCV001977193;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7342997	7342997	7342997	-
NM_001351132.2(PEX5):c.28G>C (p.Glu10Gln)	5830	PEX5	Uncertain significance	747725502	RCV002032087;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343001	7343001	7343001	-
NM_001351132.2(PEX5):c.28G>A (p.Glu10Lys)	5830	PEX5	Uncertain significance	747725502	RCV002022326;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343001	7343001	7343001	-
NM_001351132.2(PEX5):c.32G>A (p.Cys11Tyr)	5830	PEX5	Uncertain significance	-1	RCV003045139;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343005	7343005	NC_000012.11:g.7343005G>A	-
NM_001351132.2(PEX5):c.34G>A (p.Gly12Arg)	5830	PEX5	Uncertain significance	398123571	RCV000079505\|RCV002514399;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343007	7343007	12:g.7343007G>A	ClinGen:CA221515	CN169374 not specified;
NM_001351132.2(PEX5):c.36G>A (p.Gly12=)	5830	PEX5	Likely benign	1940801248	RCV002168278;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343009	7343009	7343009	-
NM_001351132.2(PEX5):c.37G>C (p.Gly13Arg)	5830	PEX5	Uncertain significance	-1	RCV003034535;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343010	7343010	NC_000012.11:g.7343010G>C	-
NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)	5830	PEX5	Uncertain significance	-1	RCV003055301\|RCV003055300;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343010	7343010	NC_000012.11:g.7343010G>A	-
NM_001351132.2(PEX5):c.38G>T (p.Gly13Val)	5830	PEX5	Uncertain significance	1940802625	RCV001899216;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343011	7343011	7343011	-
NM_001351132.2(PEX5):c.41C>T (p.Ala14Val)	5830	PEX5	Uncertain significance	768332537	RCV001053179;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343014	7343014	12:g.7343014C>T	-
NM_001351132.2(PEX5):c.42C>T (p.Ala14=)	5830	PEX5	Likely benign	1940804674	RCV002120259;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343015	7343015	7343015	-
NM_001351132.2(PEX5):c.44A>G (p.Asn15Ser)	5830	PEX5	Uncertain significance	951795989	RCV001968129;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343017	7343017	7343017	-
NM_001351132.2(PEX5):c.48G>A (p.Pro16=)	5830	PEX5	Conflicting interpretations of pathogenicity	147958315	RCV000734185\|RCV001469755;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343021	7343021	NC_000012.11:g.7343021G>A	-
NM_001351132.2(PEX5):c.48G>C (p.Pro16=)	5830	PEX5	Conflicting interpretations of pathogenicity	147958315	RCV001114714\|RCV002069849;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343021	7343021	12:g.7343021G>C	-
NM_001351132.2(PEX5):c.57G>A (p.Lys19=)	5830	PEX5	Likely benign	781336959	RCV002167459;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343030	7343030	7343030	-
NM_001351132.2(PEX5):c.62C>T (p.Ala21Val)	5830	PEX5	Uncertain significance	-1	RCV003065157;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343035	7343035	NC_000012.11:g.7343035C>T	-
NM_001351132.2(PEX5):c.63C>T (p.Ala21=)	5830	PEX5	Likely benign	374590365	RCV000919297;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343036	7343036	12:g.7343036C>T	-
NM_001351132.2(PEX5):c.63C>G (p.Ala21=)	5830	PEX5	Likely benign	374590365	RCV002181214;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343036	7343036	7343036	-
NM_001351132.2(PEX5):c.69C>T (p.His23=)	5830	PEX5	Likely benign	976676879	RCV002141868;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343042	7343042	7343042	-
NM_001351132.2(PEX5):c.75C>T (p.Thr25=)	5830	PEX5	Likely benign	770949712	RCV002096548;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343048	7343048	7343048	-
NM_001351132.2(PEX5):c.78G>C (p.Gln26His)	5830	PEX5	Uncertain significance	1940818656	RCV001763079\|RCV002543947;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343051	7343051	7343051	-
NM_001351132.2(PEX5):c.79G>T (p.Asp27Tyr)	5830	PEX5	Uncertain significance	1940819292	RCV001307318;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343052	7343052	7343052	-
NM_001351132.2(PEX5):c.80A>G (p.Asp27Gly)	5830	PEX5	Uncertain significance	2135877981	RCV002023741;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343053	7343053	7343053	-
NM_001351132.2(PEX5):c.81C>T (p.Asp27=)	5830	PEX5	Conflicting interpretations of pathogenicity	398123572	RCV000079506\|RCV002055121;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343054	7343054	12:g.7343054C>T	ClinGen:CA221518	CN169374 not specified;
NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg)	5830	PEX5	Uncertain significance	759345862	RCV001049331;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343056	7343056	12:g.7343056A>G	-
NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp)	5830	PEX5	Uncertain significance	767406855	RCV002030363;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343064	7343064	7343064	-
NM_001351132.2(PEX5):c.92G>A (p.Arg31Gln)	5830	PEX5	Uncertain significance	190526209	RCV001913160;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343065	7343065	7343065	-
NM_001351132.2(PEX5):c.93G>A (p.Arg31=)	5830	PEX5	Likely benign	-1	RCV002876023;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343066	7343066		-
NM_001351132.2(PEX5):c.99G>A (p.Glu33=)	5830	PEX5	Likely benign	753239589	RCV002124142;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343072	7343072	7343072	-
NM_001351132.2(PEX5):c.99G>C (p.Glu33Asp)	5830	PEX5	Uncertain significance	-1	RCV002295597;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343072	7343072	7343072	-
NM_001351132.2(PEX5):c.102A>T (p.Gly34=)	5830	PEX5	Likely benign	758936844	RCV002080910;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343075	7343075	7343075	-
NM_001351132.2(PEX5):c.103T>C (p.Leu35=)	5830	PEX5	Likely benign	1314683233	RCV002100092;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343076	7343076	7343076	-
NM_001351132.2(PEX5):c.107G>C (p.Arg36Thr)	5830	PEX5	Uncertain significance	2135878731	RCV001367880;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343080	7343080	7343080	-
NM_001351132.2(PEX5):c.107G>A (p.Arg36Lys)	5830	PEX5	Uncertain significance	2135878731	RCV001905599;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343080	7343080	7343080	-
NM_001351132.2(PEX5):c.113G>T (p.Gly38Val)	5830	PEX5	Uncertain significance	-1	RCV002631394;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343086	7343086	NC_000012.11:g.7343086G>T	-
NM_001351132.2(PEX5):c.114C>T (p.Gly38=)	5830	PEX5	Likely benign	1275188316	RCV002102753;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343087	7343087	7343087	-
NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala)	5830	PEX5	Uncertain significance	751937990	RCV001313079\|RCV003246868;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7343088	7343088	7343088	-
NM_001351132.2(PEX5):c.115C>T (p.Pro39Ser)	5830	PEX5	Uncertain significance	751937990	RCV002029080;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343088	7343088	7343088	-
NM_001351132.2(PEX5):c.120G>C (p.Trp40Cys)	5830	PEX5	Uncertain significance	2135879116	RCV001367089;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343093	7343093	7343093	-
NM_001351132.2(PEX5):c.121C>A (p.Pro41Thr)	5830	PEX5	Uncertain significance	781410836	RCV002038703;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343094	7343094	7343094	-
NM_001351132.2(PEX5):c.121C>T (p.Pro41Ser)	5830	PEX5	Uncertain significance	781410836	RCV002005672\|RCV002579617;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7343094	7343094	7343094	-
NM_001351132.2(PEX5):c.122C>A (p.Pro41His)	5830	PEX5	Uncertain significance	772786048	RCV001313701;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343095	7343095	7343095	-
NM_001351132.2(PEX5):c.122C>T (p.Pro41Leu)	5830	PEX5	Uncertain significance	772786048	RCV002015629;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343095	7343095	7343095	-
NM_001351132.2(PEX5):c.124C>G (p.Pro42Ala)	5830	PEX5	Uncertain significance	2135879394	RCV001969675;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343097	7343097	7343097	-
NM_001351132.2(PEX5):c.125C>G (p.Pro42Arg)	5830	PEX5	Uncertain significance	-1	RCV002695799;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343098	7343098	NC_000012.11:g.7343098C>G	-
NM_001351132.2(PEX5):c.129A>G (p.Gly43=)	5830	PEX5	Conflicting interpretations of pathogenicity	932238098	RCV000728580\|RCV001456831;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343102	7343102	NC_000012.11:g.7343102A>G	-
NM_001351132.2(PEX5):c.131C>G (p.Ala44Gly)	5830	PEX5	Uncertain significance	372992555	RCV001347838;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343104	7343104	7343104	-
NM_001351132.2(PEX5):c.131C>T (p.Ala44Val)	5830	PEX5	Uncertain significance	372992555	RCV001971747;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343104	7343104	7343104	-
NM_001351132.2(PEX5):c.133C>T (p.Pro45Ser)	5830	PEX5	Uncertain significance	1379216235	RCV001881805;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343106	7343106	7343106	-
NM_001351132.2(PEX5):c.134C>T (p.Pro45Leu)	5830	PEX5	Uncertain significance	145649593	RCV002003910;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343107	7343107	7343107	-
NM_001351132.2(PEX5):c.135G>C (p.Pro45=)	5830	PEX5	Conflicting interpretations of pathogenicity	761885230	RCV000304472\|RCV002055069;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343108	7343108	12:g.7343108G>C	ClinGen:CA6426008	CN169374 not specified;
NM_001351132.2(PEX5):c.147+77_147+121del	5830	PEX5	Conflicting interpretations of pathogenicity	-1	RCV000947414\|RCV001788383\|RCV001692325\|RCV001788382;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717\|MedGen:CN517202\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7343109	7343153	12:g.7343109_7343153del	-
NM_001351132.2(PEX5):c.147+32_147+121del	5830	PEX5	Conflicting interpretations of pathogenicity	-1	RCV001443079\|RCV001762681;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:CN517202	12	7343109	7343198	7343108	-
NM_001351132.2(PEX5):c.147+6T>C	5830	PEX5	Uncertain significance	2135881175	RCV001941415;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343126	7343126	7343126	-
NM_001351132.2(PEX5):c.148-20T>G	5830	PEX5	Uncertain significance	-1	RCV002611509;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343464	7343464	NC_000012.11:g.7343464T>G	-
NM_001351132.2(PEX5):c.148-19C>T	5830	PEX5	Likely benign	1487304617	RCV002135541;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343465	7343465	7343465	-
NM_001351132.2(PEX5):c.148-19C>G	5830	PEX5	Likely benign	-1	RCV003026469;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343465	7343465	NC_000012.11:g.7343465C>G	-
NM_001351132.2(PEX5):c.148-15_148-12del	5830	PEX5	Benign	774517551	RCV001511227;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343466	7343469	7343465	-
NM_001351132.2(PEX5):c.148-18T>G	5830	PEX5	Likely benign	1208254383	RCV002186589;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343466	7343466	7343466	-
NM_001351132.2(PEX5):c.148-18T>C	5830	PEX5	Uncertain significance	-1	RCV002791213;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343466	7343466	NC_000012.11:g.7343466T>C	-
NM_001351132.2(PEX5):c.148-14T>C	5830	PEX5	Likely benign	111277807	RCV002084573;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343470	7343470	7343470	-
NM_001351132.2(PEX5):c.148-10T>C	5830	PEX5	Likely benign	2135889432	RCV001467328;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343474	7343474	7343474	-
NM_001351132.2(PEX5):c.148-7C>T	5830	PEX5	Likely benign	1295383488	RCV000912742;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343477	7343477	12:g.7343477C>T	-
NM_001351132.2(PEX5):c.149C>T (p.Ala50Val)	5830	PEX5	Uncertain significance	1311355339	RCV001345301;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343485	7343485	7343485	-
NM_001351132.2(PEX5):c.155A>G (p.Lys52Arg)	5830	PEX5	Uncertain significance	764700965	RCV001061367;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343491	7343491	12:g.7343491A>G	-
NM_001351132.2(PEX5):c.156G>A (p.Lys52=)	5830	PEX5	Likely benign	1374555547	RCV002086528;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343492	7343492	7343492	-
NM_001351132.2(PEX5):c.164G>T (p.Gly55Val)	5830	PEX5	Uncertain significance	752097814	RCV000689803;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343500	7343500	12:g.7343500G>T	-	C0282525 202370 Neonatal adrenoleucodystrophy;
NM_001351132.2(PEX5):c.170C>T (p.Ala57Val)	5830	PEX5	Uncertain significance	-1	RCV002304268;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343506	7343506	7343506	-
NM_001351132.2(PEX5):c.182A>G (p.Glu61Gly)	5830	PEX5	Uncertain significance	-1	RCV002637198;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343518	7343518	NC_000012.11:g.7343518A>G	-
NM_001351132.2(PEX5):c.183G>A (p.Glu61=)	5830	PEX5	Uncertain significance	-1	RCV002851028\|RCV002851027;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7343519	7343519		-
NM_001351132.2(PEX5):c.183+4A>G	5830	PEX5	Uncertain significance	2135890266	RCV002033980;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343523	7343523	7343523	-
NM_001351132.2(PEX5):c.183+6T>G	5830	PEX5	Uncertain significance	1296968716	RCV001893240;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343525	7343525	7343525	-
NM_001351132.2(PEX5):c.183+9A>G	5830	PEX5	Likely benign	-1	RCV002833581;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343528	7343528	NC_000012.11:g.7343528A>G	-
NM_001351132.2(PEX5):c.183+12A>C	5830	PEX5	Likely benign	2135890525	RCV002106360;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343531	7343531	7343531	-
NM_001351132.2(PEX5):c.183+13G>C	5830	PEX5	Likely benign	1466902104	RCV002142996;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343532	7343532	7343532	-
NM_001351132.2(PEX5):c.183+13G>A	5830	PEX5	Likely benign	-1	RCV002889907;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343532	7343532	NC_000012.11:g.7343532G>A	-
NM_001351132.2(PEX5):c.183+15C>A	5830	PEX5	Likely benign	1044102845	RCV002076346;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343534	7343534	7343534	-
NM_001351132.2(PEX5):c.183+15C>T	5830	PEX5	Likely benign	1044102845	RCV002088664;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343534	7343534	7343534	-
NM_001351132.2(PEX5):c.184-8T>A	5830	PEX5	Uncertain significance	-1	RCV002979547;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343814	7343814	NC_000012.11:g.7343814T>A	-
NM_001351132.2(PEX5):c.192T>C (p.Ala64=)	5830	PEX5	Likely benign	-1	RCV003016741;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343830	7343830		-
NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp)	5830	PEX5	Uncertain significance	147730752	RCV000734729\|RCV001351783\|RCV003362929;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7343833	7343833	NC_000012.11:g.7343833A>C	-
NM_001351132.2(PEX5):c.196T>C (p.Phe66Leu)	5830	PEX5	Uncertain significance	757539708	RCV001369745;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343834	7343834	7343834	-
NM_001351132.2(PEX5):c.205G>A (p.Asp69Asn)	5830	PEX5	Uncertain significance	1941048067	RCV002010872;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343843	7343843	7343843	-
NM_001351132.2(PEX5):c.206A>C (p.Asp69Ala)	5830	PEX5	Uncertain significance	2135896856	RCV002011948;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343844	7343844	7343844	-
NM_001351132.2(PEX5):c.216A>G (p.Ala72=)	5830	PEX5	Likely benign	1941051265	RCV002169284;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343854	7343854	7343854	-
NM_001351132.2(PEX5):c.218C>G (p.Pro73Arg)	5830	PEX5	Uncertain significance	-1	RCV002596719;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343856	7343856	NC_000012.11:g.7343856C>G	-
NM_001351132.2(PEX5):c.224T>C (p.Val75Ala)	5830	PEX5	Uncertain significance	1941053816	RCV001348459;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343862	7343862	7343862	-
NM_001351132.2(PEX5):c.225G>C (p.Val75=)	5830	PEX5	Likely benign	1941054422	RCV002083527;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343863	7343863	7343863	-
NM_001351132.2(PEX5):c.228C>T (p.Ser76=)	5830	PEX5	Likely benign	968979207	RCV002171317;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343866	7343866	7343866	-
NM_001351132.2(PEX5):c.229C>T (p.Arg77Cys)	5830	PEX5	Uncertain significance	768373250	RCV001880420;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343867	7343867	7343867	-
NM_001351132.2(PEX5):c.230G>A (p.Arg77His)	5830	PEX5	Uncertain significance	780957318	RCV000592787\|RCV001250064\|RCV001241564;	N	MedGen:CN517202\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912; MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orph	12	7343868	7343868	12:g.7343868G>A	ClinGen:CA6426068	CN169374 not specified;
NM_001351132.2(PEX5):c.230G>C (p.Arg77Pro)	5830	PEX5	Uncertain significance	-1	RCV002999664;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343868	7343868	NC_000012.11:g.7343868G>C	-
NM_001351132.2(PEX5):c.232G>A (p.Ala78Thr)	5830	PEX5	Uncertain significance	-1	RCV003080074;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343870	7343870	NC_000012.11:g.7343870G>A	-
NM_001351132.2(PEX5):c.237T>G (p.Pro79=)	5830	PEX5	Uncertain significance	-1	RCV003007522;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343875	7343875		-
NM_001351132.2(PEX5):c.241A>T (p.Thr81Ser)	5830	PEX5	Uncertain significance	769373976	RCV001968371\|RCV002569172;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7343879	7343879	7343879	-
NM_001351132.2(PEX5):c.241A>G (p.Thr81Ala)	5830	PEX5	Uncertain significance	-1	RCV002785936;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343879	7343879	NC_000012.11:g.7343879A>G	-
NM_001351132.2(PEX5):c.242C>T (p.Thr81Ile)	5830	PEX5	Uncertain significance	-1	RCV002926984;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343880	7343880	NC_000012.11:g.7343880C>T	-
NM_001351132.2(PEX5):c.254A>G (p.Asp85Gly)	5830	PEX5	Uncertain significance	768652769	RCV002021246;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343892	7343892	7343892	-
NM_001351132.2(PEX5):c.257A>T (p.Asp86Val)	5830	PEX5	Uncertain significance	-1	RCV002861656;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343895	7343895	NC_000012.11:g.7343895A>T	-
NM_001351132.2(PEX5):c.258C>T (p.Asp86=)	5830	PEX5	Conflicting interpretations of pathogenicity	144351488	RCV000365150\|RCV001471245;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343896	7343896	12:g.7343896C>T	ClinGen:CA6426074	CN169374 not specified;
NM_001351132.2(PEX5):c.262C>T (p.Leu88=)	5830	PEX5	Likely benign	-1	RCV003034192;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343900	7343900		-
NM_001351132.2(PEX5):c.266C>T (p.Ala89Val)	5830	PEX5	Uncertain significance	-1	RCV003009336;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343904	7343904	NC_000012.11:g.7343904C>T	-
NM_001351132.2(PEX5):c.267T>C (p.Ala89=)	5830	PEX5	Likely benign	-1	RCV003066974;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343905	7343905		-
NM_001351132.2(PEX5):c.273G>T (p.Met91Ile)	5830	PEX5	Uncertain significance	761240813	RCV001990025;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343911	7343911	7343911	-
NM_001351132.2(PEX5):c.285G>A (p.Glu95=)	5830	PEX5	Likely benign	-1	RCV002611306;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343923	7343923		-
NM_001351132.2(PEX5):c.287A>G (p.Gln96Arg)	5830	PEX5	Uncertain significance	-1	RCV003015830;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343925	7343925	NC_000012.11:g.7343925A>G	-
NM_001351132.2(PEX5):c.292A>G (p.Asn98Asp)	5830	PEX5	Uncertain significance	374327439	RCV001878190;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343930	7343930	7343930	-
NM_001351132.2(PEX5):c.292A>C (p.Asn98His)	5830	PEX5	Uncertain significance	374327439	RCV002044350;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343930	7343930	7343930	-
NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu)	5830	PEX5	Uncertain significance	573650362	RCV000734905\|RCV001855825\|RCV003165997;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7343935	7343935	NC_000012.11:g.7343935C>A	-
NM_001351132.2(PEX5):c.297C>T (p.Phe99=)	5830	PEX5	Likely benign	-1	RCV002615499;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343935	7343935		-
NM_001351132.2(PEX5):c.299G>A (p.Arg100His)	5830	PEX5	Uncertain significance	757108771	RCV001305677;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343937	7343937	7343937	-
NM_001351132.2(PEX5):c.315A>C (p.Arg105Ser)	5830	PEX5	Uncertain significance	2135899269	RCV002012221;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343953	7343953	7343953	-
NM_001351132.2(PEX5):c.316+3G>A	5830	PEX5	Uncertain significance	200776790	RCV000729277\|RCV001037822\|RCV002536428;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7343957	7343957	NC_000012.11:g.7343957G>A	-
NM_001351132.2(PEX5):c.316+15T>C	5830	PEX5	Likely benign	755789392	RCV002186219;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343969	7343969	7343969	-
NM_001351132.2(PEX5):c.316+16A>C	5830	PEX5	Likely benign	-1	RCV002881241;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7343970	7343970	NC_000012.11:g.7343970A>C	-
NM_001351132.2(PEX5):c.317-19TC[7]	5830	PEX5	Likely benign	-1	RCV003046506;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344145	7344146	NC_000012.11:g.7344147CT[7]	-
NM_001351132.2(PEX5):c.317-19TC[5]	5830	PEX5	Likely benign	745564890	RCV002158111;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344146	7344147	7344145	-
NM_001351132.2(PEX5):c.317-19TC[4]	5830	PEX5	Uncertain significance	-1	RCV003030472;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344146	7344149	NC_000012.11:g.7344147CT[4]	-
NM_001351132.2(PEX5):c.317-18C>T	5830	PEX5	Likely benign	-1	RCV002766713;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344147	7344147	NC_000012.11:g.7344147C>T	-
NM_001351132.2(PEX5):c.317-18C>G	5830	PEX5	Likely benign	-1	RCV002819108;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344147	7344147	NC_000012.11:g.7344147C>G	-
NM_001351132.2(PEX5):c.317-16C>G	5830	PEX5	Likely benign	-1	RCV002866216;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344149	7344149	NC_000012.11:g.7344149C>G	-
NM_001351132.2(PEX5):c.317-15T>C	5830	PEX5	Likely benign	187839532	RCV001440885;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344150	7344150	7344150	-
NM_001351132.2(PEX5):c.317-11_317-10insGT	5830	PEX5	Likely benign	779639697	RCV002101791;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344153	7344154	7344153	-
NM_001351132.2(PEX5):c.317-8C>T	5830	PEX5	Likely benign	368648650	RCV001480552;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344157	7344157	7344157	-
NM_001351132.2(PEX5):c.317-6T>C	5830	PEX5	Conflicting interpretations of pathogenicity	755945291	RCV001114716\|RCV001476902\|RCV002556248;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7344159	7344159	12:g.7344159T>C	-
NM_001351132.2(PEX5):c.318C>T (p.Ala106=)	5830	PEX5	Likely benign	149185061	RCV002066105;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344166	7344166	12:g.7344166C>T	-
NM_001351132.2(PEX5):c.340T>C (p.Leu114=)	5830	PEX5	Likely benign	-1	RCV003049270;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344188	7344188		-
NM_001351132.2(PEX5):c.345T>C (p.Ser115=)	5830	PEX5	Likely benign	1326887485	RCV002179428;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344193	7344193	7344193	-
NM_001351132.2(PEX5):c.351C>G (p.Asn117Lys)	5830	PEX5	Uncertain significance	1354610463	RCV001923457;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344199	7344199	7344199	-
NM_001351132.2(PEX5):c.356C>T (p.Ala119Val)	5830	PEX5	Uncertain significance	745341735	RCV001930350;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344204	7344204	7344204	-
NM_001351132.2(PEX5):c.359A>G (p.Gln120Arg)	5830	PEX5	Uncertain significance	1347906263	RCV002027993;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344207	7344207	7344207	-
NM_001351132.2(PEX5):c.368T>C (p.Leu123Pro)	5830	PEX5	Uncertain significance	777324636	RCV001887053;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344216	7344216	7344216	-
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly)	5830	PEX5	Uncertain significance	143307183	RCV000268519\|RCV000388109\|RCV001232078;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344219	7344219	12:g.7344219C>G	ClinGen:CA6426121	CN169374 not specified;
NM_001351132.2(PEX5):c.381T>C (p.Asp127=)	5830	PEX5	Benign	201467035	RCV002088979;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344229	7344229	7344229	-
NM_001351132.2(PEX5):c.391G>T (p.Val131Leu)	5830	PEX5	Uncertain significance	-1	RCV002795223;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344239	7344239	NC_000012.11:g.7344239G>T	-
NM_001351132.2(PEX5):c.393A>C (p.Val131=)	5830	PEX5	Likely benign	-1	RCV002819724;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344241	7344241		-
NM_001351132.2(PEX5):c.396T>C (p.Thr132=)	5830	PEX5	Conflicting interpretations of pathogenicity	370827246	RCV000153687\|RCV001446164;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344244	7344244	12:g.7344244T>C	ClinGen:CA234535	CN169374 not specified;
NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe)	5830	PEX5	Uncertain significance	1385787688	RCV001230463;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344252	7344252	12:g.7344252A>T	-
NM_001351132.2(PEX5):c.404A>G (p.Tyr135Cys)	5830	PEX5	Uncertain significance	1385787688	RCV001894972;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344252	7344252	7344252	-
NM_001351132.2(PEX5):c.406A>G (p.Asn136Asp)	5830	PEX5	Uncertain significance	766587819	RCV001950580;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344254	7344254	7344254	-
NM_001351132.2(PEX5):c.414T>A (p.Thr138=)	5830	PEX5	Likely benign	-1	RCV002740560;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344262	7344262		-
NM_001351132.2(PEX5):c.415G>C (p.Asp139His)	5830	PEX5	Uncertain significance	375689941	RCV001915382;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344263	7344263	7344263	-
NM_001351132.2(PEX5):c.417C>T (p.Asp139=)	5830	PEX5	Likely benign	-1	RCV002833118;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344265	7344265		-
NM_001351132.2(PEX5):c.417C>G (p.Asp139Glu)	5830	PEX5	Uncertain significance	-1	RCV002903023;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344265	7344265	NC_000012.11:g.7344265C>G	-
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala)	5830	PEX5	Uncertain significance	200475014	RCV000591377\|RCV001109085\|RCV001867954\|RCV003409863;	N	MedGen:C3661900\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|	12	7344269	7344269	12:g.7344269T>G	ClinGen:CA6426128	CN169374 not specified;
NM_001351132.2(PEX5):c.431T>G (p.Phe144Cys)	5830	PEX5	Uncertain significance	1175995959	RCV001940713;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344279	7344279	7344279	-
NM_001351132.2(PEX5):c.437C>T (p.Ser146Phe)	5830	PEX5	Uncertain significance	-1	RCV003098913;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344285	7344285	NC_000012.11:g.7344285C>T	-
NM_001351132.2(PEX5):c.448+7C>T	5830	PEX5	Likely benign	-1	RCV002877517;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344303	7344303	NC_000012.11:g.7344303C>T	-
NM_001351132.2(PEX5):c.448+18A>G	5830	PEX5	Likely benign	-1	RCV003058008;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344314	7344314	NC_000012.11:g.7344314A>G	-
NM_001351132.2(PEX5):c.448+20A>G	5830	PEX5	Likely benign	2135906489	RCV002197390;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7344316	7344316	7344316	-
NM_001351132.2(PEX5):c.449-17T>C	5830	PEX5	Likely benign	1231533366	RCV002210464;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351590	7351590	7351590	-
NM_001351132.2(PEX5):c.449-16T>C	5830	PEX5	Likely benign	2136073334	RCV002093552;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351591	7351591	7351591	-
NM_001351132.2(PEX5):c.449-14T>C	5830	PEX5	Likely benign	1943225638	RCV002131825;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351593	7351593	7351593	-
NM_001351132.2(PEX5):c.449-13C>T	5830	PEX5	Likely benign	-1	RCV003021204;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351594	7351594	NC_000012.11:g.7351594C>T	-
NM_001351132.2(PEX5):c.449-11G>C	5830	PEX5	Likely benign	2136073420	RCV002140265;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351596	7351596	7351596	-
NM_001351132.2(PEX5):c.449-10C>T	5830	PEX5	Likely benign	749619215	RCV002141411;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351597	7351597	7351597	-
NM_001351132.2(PEX5):c.449-8C>T	5830	PEX5	Likely benign	771181829	RCV002165346;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351599	7351599	7351599	-
NM_001351132.2(PEX5):c.451C>T (p.Pro151Ser)	5830	PEX5	Uncertain significance	-1	RCV003052497;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351609	7351609	NC_000012.11:g.7351609C>T	-
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg)	5830	PEX5	Uncertain significance	200720523	RCV000733223\|RCV001196728\|RCV001240870;	N	MedGen:C3661900\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351610	7351610	NC_000012.11:g.7351610C>G	-
NM_001351132.2(PEX5):c.452C>T (p.Pro151Leu)	5830	PEX5	Uncertain significance	200720523	RCV001936716;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351610	7351610	7351610	-
NM_001351132.2(PEX5):c.455T>G (p.Leu152Trp)	5830	PEX5	Uncertain significance	370913045	RCV001298596;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351613	7351613	7351613	-
NM_001351132.2(PEX5):c.464C>G (p.Ser155Cys)	5830	PEX5	Uncertain significance	1943231620	RCV001998990;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351622	7351622	7351622	-
NM_001351132.2(PEX5):c.466C>G (p.Pro156Ala)	5830	PEX5	Uncertain significance	2136074053	RCV001975879;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351624	7351624	7351624	-
NM_001351132.2(PEX5):c.471C>T (p.Ala157=)	5830	PEX5	Conflicting interpretations of pathogenicity	144331955	RCV000153688\|RCV001085438;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351629	7351629	12:g.7351629C>T	ClinGen:CA234538	CN169374 not specified;
NM_001351132.2(PEX5):c.472C>T (p.Arg158Cys)	5830	PEX5	Uncertain significance	747679909	RCV001340371;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351630	7351630	7351630	-
NM_001351132.2(PEX5):c.473G>A (p.Arg158His)	5830	PEX5	Uncertain significance	140456601	RCV001912937;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351631	7351631	7351631	-
NM_001351132.2(PEX5):c.492G>A (p.Leu164=)	5830	PEX5	Likely benign	779720569	RCV001858572;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351650	7351650	12:g.7351650G>A	-
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)	5830	PEX5	Uncertain significance	751043763	RCV000726787\|RCV001067078\|RCV001109086\|RCV002527582;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MeSH:D030342,MedGen:C0950123	12	7351654	7351654	12:g.7351654C>G	ClinGen:CA6426155	CN169374 not specified;
NM_001351132.2(PEX5):c.498A>G (p.Gln166=)	5830	PEX5	Conflicting interpretations of pathogenicity	756714515	RCV000323599\|RCV002520835;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351656	7351656	NC_000012.11:g.7351656A>G	ClinGen:CA6426156	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.502GAG[1] (p.Glu169del)	5830	PEX5	Uncertain significance	773404109	RCV002002866;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351660	7351662	7351659	-
NM_001351132.2(PEX5):c.505G>C (p.Glu169Gln)	5830	PEX5	Uncertain significance	1565693412	RCV001299532;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351663	7351663	7351663	-
NM_001351132.2(PEX5):c.508_510del (p.Lys170del)	5830	PEX5	Uncertain significance	-1	RCV002958383;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351664	7351666	NC_000012.11:g.7351666_7351668del	-
NM_001351132.2(PEX5):c.510G>A (p.Lys170=)	5830	PEX5	Likely benign	1943242860	RCV002149748;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351668	7351668	7351668	-
NM_001351132.2(PEX5):c.511C>T (p.Leu171=)	5830	PEX5	Likely benign	1943243303	RCV002208035;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351669	7351669	7351669	-
NM_001351132.2(PEX5):c.517C>A (p.Leu173Met)	5830	PEX5	Uncertain significance	1943245558	RCV001059711;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351675	7351675	12:g.7351675C>A	-
NM_001351132.2(PEX5):c.519G>A (p.Leu173=)	5830	PEX5	Likely benign	-1	RCV002937289;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351677	7351677		-
NM_001351132.2(PEX5):c.523G>A (p.Glu175Lys)	5830	PEX5	Uncertain significance	1259114034	RCV002044341;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351681	7351681	7351681	-
NM_001351132.2(PEX5):c.527C>T (p.Pro176Leu)	5830	PEX5	Uncertain significance	145613325	RCV001958551;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351685	7351685	7351685	-
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)	5830	PEX5	Uncertain significance	749729761	RCV000382945\|RCV000731665\|RCV001250048\|RCV001859858;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MedGen:CN517202\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717; MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orp	12	7351691	7351691	NC_000012.11:g.7351691G>A	ClinGen:CA6426161	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.536C>T (p.Thr179Ile)	5830	PEX5	Uncertain significance	2136075556	RCV001872223;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351694	7351694	7351694	-
NM_001351132.2(PEX5):c.540C>T (p.Ala180=)	5830	PEX5	Likely benign	2136075643	RCV002158473;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351698	7351698	7351698	-
NM_001351132.2(PEX5):c.543C>T (p.Thr181=)	5830	PEX5	Conflicting interpretations of pathogenicity	138205085	RCV000730677\|RCV001422472;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351701	7351701	NC_000012.11:g.7351701C>T	-
NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)	5830	PEX5	Uncertain significance	-1	RCV003079936;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351702	7351702	NC_000012.11:g.7351702G>A	-
NM_001351132.2(PEX5):c.547C>T (p.Arg183Cys)	5830	PEX5	Uncertain significance	746104983	RCV000348156\|RCV001850445;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351705	7351705	12:g.7351705C>T	ClinGen:CA6426164	CN169374 not specified;
NM_001351132.2(PEX5):c.547C>A (p.Arg183Ser)	5830	PEX5	Uncertain significance	746104983	RCV001366099;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351705	7351705	7351705	-
NM_001351132.2(PEX5):c.548G>A (p.Arg183His)	5830	PEX5	Uncertain significance	772215584	RCV002049940;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351706	7351706	7351706	-
NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg)	5830	PEX5	Uncertain significance	998840500	RCV001213855;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351708	7351708	12:g.7351708T>C	-
NM_001351132.2(PEX5):c.551G>C (p.Trp184Ser)	5830	PEX5	Uncertain significance	-1	RCV002910076;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351709	7351709	NC_000012.11:g.7351709G>C	-
NM_001351132.2(PEX5):c.551+8C>T	5830	PEX5	Conflicting interpretations of pathogenicity	775578165	RCV000734925\|RCV002535401;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351717	7351717	NC_000012.11:g.7351717C>T	-
NM_001351132.2(PEX5):c.551+9A>G	5830	PEX5	Likely benign	1163805891	RCV002154188;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351718	7351718	7351718	-
NM_001351132.2(PEX5):c.551+10G>A	5830	PEX5	Likely benign	1394539856	RCV002107763;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351719	7351719	7351719	-
NM_001351132.2(PEX5):c.551+13A>C	5830	PEX5	Likely benign	372527455	RCV002108650;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351722	7351722	7351722	-
NM_001351132.2(PEX5):c.551+14C>T	5830	PEX5	Likely benign	375606946	RCV002116881;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351723	7351723	7351723	-
NM_001351132.2(PEX5):c.551+15C>T	5830	PEX5	Conflicting interpretations of pathogenicity	886049825	RCV000288618\|RCV002056332;	N	MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351724	7351724	12:g.7351724C>T	ClinGen:CA10643302	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.551+17C>T	5830	PEX5	Likely benign	-1	RCV003043307;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7351726	7351726	NC_000012.11:g.7351726C>T	-
NM_001351132.2(PEX5):c.552-18_552-17insCCC	5830	PEX5	Likely benign	1385408187	RCV002172897;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354329	7354330	7354329	-
NM_001351132.2(PEX5):c.552-8del	5830	PEX5	Likely benign	774656931	RCV002165663;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354337	7354337	7354336	-
NM_001351132.2(PEX5):c.552-10C>T	5830	PEX5	Conflicting interpretations of pathogenicity	-1	RCV002824338\|RCV003134506;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:CN517202	12	7354337	7354337	NC_000012.11:g.7354337C>T	-
NM_001351132.2(PEX5):c.552-9C>A	5830	PEX5	Uncertain significance	762893506	RCV001208533;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354338	7354338	12:g.7354338C>A	-
NM_001351132.2(PEX5):c.552-8C>T	5830	PEX5	Likely benign	766250063	RCV001482795;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354339	7354339	7354339	-
NM_001351132.2(PEX5):c.552-7G>A	5830	PEX5	Conflicting interpretations of pathogenicity	189631769	RCV000329555\|RCV000729198\|RCV001080298;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354340	7354340	12:g.7354340G>A	ClinGen:CA6426194	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.552-7G>C	5830	PEX5	Likely benign	-1	RCV002862506;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354340	7354340	NC_000012.11:g.7354340G>C	-
NM_001351132.2(PEX5):c.552-4C>T	5830	PEX5	Likely benign	-1	RCV002750841;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354343	7354343	NC_000012.11:g.7354343C>T	-
NM_001351132.2(PEX5):c.552-3C>T	5830	PEX5	Uncertain significance	368653314	RCV001373622;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354344	7354344	7354344	-
NM_001351132.2(PEX5):c.556G>T (p.Asp186Tyr)	5830	PEX5	Uncertain significance	-1	RCV003036244;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354351	7354351	NC_000012.11:g.7354351G>T	-
NM_001351132.2(PEX5):c.558T>C (p.Asp186=)	5830	PEX5	Likely benign	995809384	RCV002198434;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354353	7354353	7354353	-
NM_001351132.2(PEX5):c.561A>G (p.Glu187=)	5830	PEX5	Likely benign	1159781502	RCV002188503;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354356	7354356	7354356	-
NM_001351132.2(PEX5):c.564T>C (p.Tyr188=)	5830	PEX5	Likely benign	2136142856	RCV002202384;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354359	7354359	7354359	-
NM_001351132.2(PEX5):c.567T>C (p.His189=)	5830	PEX5	Likely benign	1443546589	RCV001444230;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354362	7354362	7354362	-
NM_001351132.2(PEX5):c.568C>T (p.Pro190Ser)	5830	PEX5	Uncertain significance	1410451415	RCV001996953;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354363	7354363	7354363	-
NM_001351132.2(PEX5):c.569C>T (p.Pro190Leu)	5830	PEX5	Uncertain significance	2136143100	RCV002013395;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354364	7354364	7354364	-
NM_001351132.2(PEX5):c.570T>C (p.Pro190=)	5830	PEX5	Likely benign	767068406	RCV002148000;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354365	7354365	7354365	-
NM_001351132.2(PEX5):c.579T>A (p.Asp193Glu)	5830	PEX5	Uncertain significance	-1	RCV002810477;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354374	7354374	NC_000012.11:g.7354374T>A	-
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met)	5830	PEX5	Uncertain significance	144897942	RCV000341835\|RCV001109087\|RCV001230551;	N	MedGen:C3661900\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354385	7354385	12:g.7354385C>T	ClinGen:CA6426198	CN169374 not specified;
NM_001351132.2(PEX5):c.591G>A (p.Thr197=)	5830	PEX5	Conflicting interpretations of pathogenicity	146024341	RCV000597574\|RCV001406498;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354386	7354386	12:g.7354386G>A	ClinGen:CA6426199	CN169374 not specified;
NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn)	5830	PEX5	Uncertain significance	750906889	RCV000734599\|RCV001208729;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354391	7354391	NC_000012.11:g.7354391G>A	-
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)	5830	PEX5	Conflicting interpretations of pathogenicity	149102738	RCV000262302\|RCV000386382\|RCV000676016\|RCV001082425;	N	MedGen:CN169374\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354399	7354399	12:g.7354399G>C	ClinGen:CA6426202	CN517202 not provided;
NM_001351132.2(PEX5):c.609C>T (p.Ala203=)	5830	PEX5	Likely benign	747312170	RCV002095176;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354404	7354404	7354404	-
NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu)	5830	PEX5	Uncertain significance	149289353	RCV001231576\|RCV001760234;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:CN517202	12	7354405	7354405	12:g.7354405A>G	-
NM_001351132.2(PEX5):c.618T>C (p.Asp206=)	5830	PEX5	Likely benign	1232020173	RCV002217457;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354413	7354413	7354413	-
NM_001351132.2(PEX5):c.620A>T (p.Asp207Val)	5830	PEX5	Uncertain significance	1011160954	RCV001926724;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354415	7354415	7354415	-
NM_001351132.2(PEX5):c.620A>G (p.Asp207Gly)	5830	PEX5	Uncertain significance	1011160954	RCV001944177;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354415	7354415	7354415	-
NM_001351132.2(PEX5):c.626A>G (p.Lys209Arg)	5830	PEX5	Uncertain significance	748132358	RCV002012083;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354421	7354421	7354421	-
NM_001351132.2(PEX5):c.642+6C>T	5830	PEX5	Uncertain significance	376779359	RCV001233633;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354443	7354443	12:g.7354443C>T	-
NM_001351132.2(PEX5):c.642+12C>A	5830	PEX5	Likely benign	2136144500	RCV002123216;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354449	7354449	7354449	-
NM_001351132.2(PEX5):c.642+13C>T	5830	PEX5	Likely benign	-1	RCV002811108;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354450	7354450	NC_000012.11:g.7354450C>T	-
NM_001351132.2(PEX5):c.642+14C>T	5830	PEX5	Likely benign	-1	RCV002856287;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354451	7354451	NC_000012.11:g.7354451C>T	-
NM_001351132.2(PEX5):c.642+16C>T	5830	PEX5	Likely benign	768913130	RCV002200865;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354453	7354453	7354453	-
NM_001351132.2(PEX5):c.642+18G>A	5830	PEX5	Likely benign	1333391326	RCV002078449;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354455	7354455	7354455	-
NM_001351132.2(PEX5):c.642+19C>G	5830	PEX5	Likely benign	759232327	RCV001945351;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354456	7354456	7354456	-
NM_001351132.2(PEX5):c.642+19C>T	5830	PEX5	Likely benign	-1	RCV002735244;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354456	7354456	NC_000012.11:g.7354456C>T	-
NM_001351132.2(PEX5):c.643-22TG[2]	5830	PEX5	Likely benign	767919243	RCV002193975;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354815	7354818	7354814	-
NM_001351132.2(PEX5):c.643-17G>A	5830	PEX5	Likely benign	372199869	RCV002216539;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354820	7354820	7354820	-
NM_001351132.2(PEX5):c.643-12T>C	5830	PEX5	Likely benign	2136150492	RCV002104770;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354825	7354825	7354825	-
NM_001351132.2(PEX5):c.643-5C>T	5830	PEX5	Conflicting interpretations of pathogenicity	886049826	RCV000294324\|RCV002056333;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354832	7354832	NC_000012.11:g.7354832C>T	ClinGen:CA10643304	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.645C>A (p.Phe215Leu)	5830	PEX5	Uncertain significance	1944168456	RCV001990991;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354839	7354839	7354839	-
NM_001351132.2(PEX5):c.651A>G (p.Lys217=)	5830	PEX5	Uncertain significance	2136150959	RCV001926688;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354845	7354845	7354845	-
NM_001351132.2(PEX5):c.654C>T (p.Phe218=)	5830	PEX5	Likely benign	752935710	RCV002098425;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354848	7354848	7354848	-
NM_001351132.2(PEX5):c.655G>A (p.Val219Met)	5830	PEX5	Uncertain significance	144508802	RCV001949841;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354849	7354849	7354849	-
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp)	5830	PEX5	Benign	200020561	RCV000902183;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354852	7354852	12:g.7354852C>T	-
NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln)	5830	PEX5	Uncertain significance	148417349	RCV000732152\|RCV001307351;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354853	7354853	NC_000012.11:g.7354853G>A	-
NM_001351132.2(PEX5):c.663G>A (p.Gln221=)	5830	PEX5	Conflicting interpretations of pathogenicity	886043565	RCV000397129\|RCV001498915;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354857	7354857	12:g.7354857G>A	ClinGen:CA10605665	CN169374 not specified;
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val)	5830	PEX5	Uncertain significance	778800705	RCV001907610\|RCV003147688\|RCV003147687;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7354858	7354858	7354858	-
NM_001351132.2(PEX5):c.667G>A (p.Gly223Ser)	5830	PEX5	Uncertain significance	771879452	RCV001980803;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354861	7354861	7354861	-
NM_001351132.2(PEX5):c.669C>T (p.Gly223=)	5830	PEX5	Conflicting interpretations of pathogenicity	-1	RCV002584080\|RCV003395491;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:C3661900	12	7354863	7354863		-
NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys)	5830	PEX5	Uncertain significance	767347186	RCV000593734\|RCV001341339;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354864	7354864	12:g.7354864G>A	ClinGen:CA6426234	CN169374 not specified;
NM_001351132.2(PEX5):c.672A>G (p.Glu224=)	5830	PEX5	Likely benign	-1	RCV003032191;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354866	7354866		-
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala)	5830	PEX5	Uncertain significance	777842778	RCV000514986\|RCV001071012;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354874	7354874	12:g.7354874T>C	ClinGen:CA6426236	CN517202 not provided;
NM_001351132.2(PEX5):c.681G>A (p.Val227=)	5830	PEX5	Likely benign	763452261	RCV002092923;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354875	7354875	7354875	-
NM_001351132.2(PEX5):c.684C>T (p.Ser228=)	5830	PEX5	Likely benign	1234954632	RCV002213896;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354878	7354878	7354878	-
NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala)	5830	PEX5	Uncertain significance	140292053	RCV001237855;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354883	7354883	12:g.7354883A>C	-
NM_001351132.2(PEX5):c.692C>G (p.Ser231Cys)	5830	PEX5	Uncertain significance	-1	RCV002297705;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354886	7354886	7354886	-
NM_001351132.2(PEX5):c.693C>T (p.Ser231=)	5830	PEX5	Conflicting interpretations of pathogenicity	140332077	RCV000361889\|RCV002059308;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354887	7354887	12:g.7354887C>T	ClinGen:CA6426241	CN169374 not specified;
NM_001351132.2(PEX5):c.693C>A (p.Ser231=)	5830	PEX5	Uncertain significance	-1	RCV003030933;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354887	7354887		-
NM_001351132.2(PEX5):c.694G>A (p.Gly232Ser)	5830	PEX5	Uncertain significance	-1	RCV002577162;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354888	7354888	NC_000012.11:g.7354888G>A	-
NM_001351132.2(PEX5):c.695G>A (p.Gly232Asp)	5830	PEX5	Uncertain significance	-1	RCV003042698;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354889	7354889	NC_000012.11:g.7354889G>A	-
NM_001351132.2(PEX5):c.698C>T (p.Ala233Val)	5830	PEX5	Uncertain significance	2136152339	RCV002000687;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354892	7354892	7354892	-
NM_001351132.2(PEX5):c.702G>T (p.Gly234=)	5830	PEX5	Likely benign	-1	RCV002735372;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354896	7354896		-
NM_001351132.2(PEX5):c.704C>T (p.Ser235Leu)	5830	PEX5	Uncertain significance	752922748	RCV001884125;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354898	7354898	7354898	-
NM_001351132.2(PEX5):c.705G>A (p.Ser235=)	5830	PEX5	Likely benign	184234003	RCV000915691;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354899	7354899	12:g.7354899G>A	-
NM_001351132.2(PEX5):c.706G>C (p.Gly236Arg)	5830	PEX5	Uncertain significance	2136152526	RCV001876336;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354900	7354900	7354900	-
NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln)	5830	PEX5	Uncertain significance	1011369978	RCV001037407\|RCV002551382;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7354904	7354904	12:g.7354904G>A	-
NM_001351132.2(PEX5):c.718G>C (p.Ala240Pro)	5830	PEX5	Uncertain significance	778767381	RCV001907780;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354912	7354912	7354912	-
NM_001351132.2(PEX5):c.720A>C (p.Ala240=)	5830	PEX5	Likely benign	-1	RCV003056189;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354914	7354914		-
NM_001351132.2(PEX5):c.733G>A (p.Ala245Thr)	5830	PEX5	Uncertain significance	-1	RCV002663273;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354927	7354927	NC_000012.11:g.7354927G>A	-
NM_001351132.2(PEX5):c.738G>A (p.Glu246=)	5830	PEX5	Likely benign	-1	RCV002842120;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354932	7354932		-
NM_001351132.2(PEX5):c.745C>G (p.Gln249Glu)	5830	PEX5	Uncertain significance	1442020873	RCV001950014;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354939	7354939	7354939	-
NM_001351132.2(PEX5):c.750G>C (p.Gln250His)	5830	PEX5	Uncertain significance	1239267747	RCV002030109;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354944	7354944	7354944	-
NM_001351132.2(PEX5):c.753+10T>C	5830	PEX5	Conflicting interpretations of pathogenicity	373242881	RCV000734195\|RCV001396812;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354957	7354957	NC_000012.11:g.7354957T>C	-
NM_001351132.2(PEX5):c.753+13C>T	5830	PEX5	Likely benign	747606192	RCV002100507;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354960	7354960	7354960	-
NM_001351132.2(PEX5):c.753+19C>A	5830	PEX5	Likely benign	-1	RCV003044805;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354966	7354966	NC_000012.11:g.7354966C>A	-
NM_001351132.2(PEX5):c.753+20C>T	5830	PEX5	Likely benign	975426592	RCV002178854;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7354967	7354967	7354967	-
NM_001351132.2(PEX5):c.754-17A>G	5830	PEX5	Likely benign	779717442	RCV002112445;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355191	7355191	7355191	-
NM_001351132.2(PEX5):c.754-5C>T	5830	PEX5	Likely benign	377379933	RCV001469309;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355203	7355203	7355203	-
NM_001351132.2(PEX5):c.754-4G>A	5830	PEX5	Conflicting interpretations of pathogenicity	111286659	RCV000351623\|RCV000597250\|RCV001082911;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355204	7355204	NC_000012.11:g.7355204G>A	ClinGen:CA6426271	CN169374 not specified;
NM_001351132.2(PEX5):c.754-4G>T	5830	PEX5	Likely benign	111286659	RCV002147348;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355204	7355204	7355204	-
NM_001351132.2(PEX5):c.755G>A (p.Gly252Asp)	5830	PEX5	Uncertain significance	1234343542	RCV000593057\|RCV001867972;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355209	7355209	12:g.7355209G>A	ClinGen:CA383723835	CN169374 not specified;
NM_001351132.2(PEX5):c.758C>T (p.Thr253Ile)	5830	PEX5	Uncertain significance	747765156	RCV001987979;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355212	7355212	7355212	-
NM_001351132.2(PEX5):c.786A>G (p.Thr262=)	5830	PEX5	Likely benign	-1	RCV002880807;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355240	7355240		-
NM_001351132.2(PEX5):c.793G>A (p.Val265Ile)	5830	PEX5	Uncertain significance	776020873	RCV001912667;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355247	7355247	7355247	-
NM_001351132.2(PEX5):c.799A>T (p.Thr267Ser)	5830	PEX5	Uncertain significance	1445974761	RCV001901675;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355253	7355253	7355253	-
NM_001351132.2(PEX5):c.800C>T (p.Thr267Ile)	5830	PEX5	Uncertain significance	759083753	RCV001991589;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355254	7355254	7355254	-
NM_001351132.2(PEX5):c.801A>G (p.Thr267=)	5830	PEX5	Likely benign	1243197291	RCV001439927;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355255	7355255	7355255	-
NM_001351132.2(PEX5):c.808C>T (p.Leu270Phe)	5830	PEX5	Uncertain significance	2136158729	RCV001906165;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355262	7355262	7355262	-
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)	5830	PEX5	Benign	76708142	RCV000224761\|RCV000391395\|RCV001083157\|RCV002500750;	N	MedGen:C3661900\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet	12	7355269	7355269	12:g.7355269T>C	ClinGen:CA6426282	C0282525 202370 Neonatal adrenoleucodystrophy;
NM_001351132.2(PEX5):c.822T>A (p.Phe274Leu)	5830	PEX5	Uncertain significance	-1	RCV002919023;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355276	7355276	NC_000012.11:g.7355276T>A	-
NM_001351132.2(PEX5):c.831C>T (p.Ala277=)	5830	PEX5	Conflicting interpretations of pathogenicity	747216258	RCV000734045\|RCV001086564;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355285	7355285	NC_000012.11:g.7355285C>T	-
NM_001351132.2(PEX5):c.831C>A (p.Ala277=)	5830	PEX5	Likely benign	747216258	RCV001429679;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355285	7355285	7355285	-
NM_001351132.2(PEX5):c.834G>A (p.Lys278=)	5830	PEX5	Likely benign	-1	RCV002828491;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355288	7355288		-
NM_001351132.2(PEX5):c.837A>G (p.Ser279=)	5830	PEX5	Likely benign	2136159396	RCV002211211\|RCV003101229;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355291	7355291	7355291	-
NM_001351132.2(PEX5):c.843A>C (p.Ile281=)	5830	PEX5	Likely benign	1340349823	RCV001404504;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355297	7355297	7355297	-
NM_001351132.2(PEX5):c.845A>C (p.Glu282Ala)	5830	PEX5	Uncertain significance	-1	RCV002639567;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355299	7355299	NC_000012.11:g.7355299A>C	-
NM_001351132.2(PEX5):c.846G>T (p.Glu282Asp)	5830	PEX5	Uncertain significance	2136159660	RCV001987903;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355300	7355300	7355300	-
NM_001351132.2(PEX5):c.846+5G>A	5830	PEX5	Uncertain significance	-1	RCV002975747;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355305	7355305	NC_000012.11:g.7355305G>A	-
NM_001351132.2(PEX5):c.846+12T>C	5830	PEX5	Likely benign	-1	RCV003056400;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7355312	7355312	NC_000012.11:g.7355312T>C	-
NM_001351132.2(PEX5):c.847-11C>T	5830	PEX5	Likely benign	-1	RCV002745565;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356017	7356017	NC_000012.11:g.7356017C>T	-
NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe)	5830	PEX5	Uncertain significance	370010815	RCV001226260;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356029	7356029	12:g.7356029C>T	-
NM_001351132.2(PEX5):c.848C>G (p.Ser283Cys)	5830	PEX5	Uncertain significance	370010815	RCV001949909;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356029	7356029	7356029	-
NM_001351132.2(PEX5):c.855C>T (p.Val285=)	5830	PEX5	Likely benign	-1	RCV002751114;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356036	7356036		-
NM_001351132.2(PEX5):c.856G>A (p.Asp286Asn)	5830	PEX5	Uncertain significance	1246877750	RCV001346125;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356037	7356037	7356037	-
NM_001351132.2(PEX5):c.878C>G (p.Ala293Gly)	5830	PEX5	Uncertain significance	1216991743	RCV002013614;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356059	7356059	7356059	-
NM_001351132.2(PEX5):c.893T>C (p.Met298Thr)	5830	PEX5	Uncertain significance	-1	RCV002775194;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356074	7356074	NC_000012.11:g.7356074T>C	-
NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly)	5830	PEX5	Uncertain significance	767306549	RCV000498904\|RCV001369220;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356082	7356082	12:g.7356082C>G	ClinGen:CA232472384	CN169374 not specified;
NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp)	5830	PEX5	Uncertain significance	767306549	RCV001332880\|RCV003169557;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7356082	7356082	7356082	-
NM_001351132.2(PEX5):c.902G>A (p.Arg301Gln)	5830	PEX5	Uncertain significance	2136175132	RCV001365636;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356083	7356083	7356083	-
NM_001351132.2(PEX5):c.909T>C (p.Ala303=)	5830	PEX5	Conflicting interpretations of pathogenicity	376649488	RCV000278913\|RCV002520836;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356090	7356090	NC_000012.11:g.7356090T>C	ClinGen:CA6426311	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.919C>T (p.Pro307Ser)	5830	PEX5	Uncertain significance	-1	RCV003049869;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356100	7356100	NC_000012.11:g.7356100C>T	-
NM_001351132.2(PEX5):c.920C>T (p.Pro307Leu)	5830	PEX5	Uncertain significance	1159586988	RCV001961797;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356101	7356101	7356101	-
NM_001351132.2(PEX5):c.930T>C (p.Ser310=)	5830	PEX5	Likely benign	2136175490	RCV002111452;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356111	7356111	7356111	-
NM_001351132.2(PEX5):c.933C>G (p.Asp311Glu)	5830	PEX5	Uncertain significance	1446059699	RCV001902318;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356114	7356114	7356114	-
NM_001351132.2(PEX5):c.933C>T (p.Asp311=)	5830	PEX5	Likely benign	1446059699	RCV002179719;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356114	7356114	7356114	-
NM_001351132.2(PEX5):c.947C>T (p.Thr316Met)	5830	PEX5	Uncertain significance	747529713	RCV001964560;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356128	7356128	7356128	-
NM_001351132.2(PEX5):c.948G>A (p.Thr316=)	5830	PEX5	Likely benign	-1	RCV003104581;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356129	7356129		-
NM_001351132.2(PEX5):c.956C>A (p.Thr319Asn)	5830	PEX5	Uncertain significance	1310273629	RCV001967089;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356137	7356137	7356137	-
NM_001351132.2(PEX5):c.957C>T (p.Thr319=)	5830	PEX5	Likely benign	1208975053	RCV001493774;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356138	7356138	7356138	-
NM_001351132.2(PEX5):c.961_963del (p.Asp321del)	5830	PEX5	Uncertain significance	1256295273	RCV001889602;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356140	7356142	7356139	-
NM_001351132.2(PEX5):c.965A>T (p.Lys322Met)	5830	PEX5	Uncertain significance	770028664	RCV002011221;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356146	7356146	7356146	-
NM_001351132.2(PEX5):c.965A>G (p.Lys322Arg)	5830	PEX5	Uncertain significance	770028664	RCV001878732;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356146	7356146	7356146	-
NM_001351132.2(PEX5):c.966+3G>A	5830	PEX5	Uncertain significance	373763823	RCV000224945\|RCV000336452\|RCV001205030;	N	MedGen:CN517202\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356150	7356150	12:g.7356150G>A	ClinGen:CA6426323	CN517202 not provided;
NM_001351132.2(PEX5):c.966+5G>A	5830	PEX5	Uncertain significance	199705127	RCV000079507\|RCV001854403;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356152	7356152	12:g.7356152G>A	ClinGen:CA221521	CN169374 not specified;
NM_001351132.2(PEX5):c.966+9A>G	5830	PEX5	Likely benign	1389020583	RCV002179708;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356156	7356156	7356156	-
NM_001351132.2(PEX5):c.966+12A>C	5830	PEX5	Likely benign	-1	RCV002790485;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356159	7356159	NC_000012.11:g.7356159A>C	-
NM_001351132.2(PEX5):c.966+15_966+16del	5830	PEX5	Likely benign	753821907	RCV002177087;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356160	7356161	7356159	-
NM_001351132.2(PEX5):c.966+18_966+19dup	5830	PEX5	Likely benign	781032142	RCV002076170;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356164	7356165	7356164	-
NM_001351132.2(PEX5):c.966+24dup	5830	PEX5	Benign	1944415107	RCV002135489;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7356166	7356167	7356166	-
NM_001351132.2(PEX5):c.967-26C>G	5830	PEX5	Benign	3816424	RCV000676018\|RCV001788321\|RCV001788323\|RCV001788322;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7360229	7360229	NC_000012.11:g.7360229C>G	-	CN517202 not provided;
NM_001351132.2(PEX5):c.967-18C>T	5830	PEX5	Likely benign	1944977827	RCV002124257;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360237	7360237	7360237	-
NM_001351132.2(PEX5):c.967-17A>T	5830	PEX5	Likely benign	-1	RCV002746343;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360238	7360238	NC_000012.11:g.7360238A>T	-
NM_001351132.2(PEX5):c.967-16C>T	5830	PEX5	Likely benign	764842874	RCV002110292;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360239	7360239	7360239	-
NM_001351132.2(PEX5):c.967-15G>A	5830	PEX5	Conflicting interpretations of pathogenicity	201341037	RCV000404589\|RCV001451152;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360240	7360240	NC_000012.11:g.7360240G>A	ClinGen:CA6426337	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.967-13G>A	5830	PEX5	Likely benign	900261902	RCV002091882;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360242	7360242	7360242	-
NM_001351132.2(PEX5):c.967-10T>G	5830	PEX5	Likely benign	2136226017	RCV002150260;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360245	7360245	7360245	-
NM_001351132.2(PEX5):c.967-3dup	5830	PEX5	Uncertain significance	777815209	RCV000729738\|RCV001300680;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360251	7360252	NC_000012.11:g.7360252dup	-
NM_001351132.2(PEX5):c.967G>C (p.Gly323Arg)	5830	PEX5	Uncertain significance	-1	RCV003025767;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360255	7360255	NC_000012.11:g.7360255G>C	-
NM_001351132.2(PEX5):c.969G>C (p.Gly323=)	5830	PEX5	Likely benign	-1	RCV002741183;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360257	7360257		-
NM_001351132.2(PEX5):c.969G>A (p.Gly323=)	5830	PEX5	Likely benign	-1	RCV002731516;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360257	7360257		-
NM_001351132.2(PEX5):c.973C>G (p.Gln325Glu)	5830	PEX5	Uncertain significance	1369524555	RCV001898401;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360261	7360261	7360261	-
NM_001351132.2(PEX5):c.979GAG[2] (p.Glu329del)	5830	PEX5	Uncertain significance	-1	RCV003007823;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360267	7360269	NC_000012.11:g.7360267GAG[2]	-
NM_001351132.2(PEX5):c.984G>A (p.Glu328=)	5830	PEX5	Likely benign	2136226421	RCV001434408;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360272	7360272	7360272	-
NM_001351132.2(PEX5):c.990C>T (p.Asn330=)	5830	PEX5	Likely benign	781775833	RCV002205409;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360278	7360278	7360278	-
NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser)	5830	PEX5	Uncertain significance	1311867918	RCV001241790;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360279	7360279	12:g.7360279C>T	-
NM_001351132.2(PEX5):c.992C>G (p.Pro331Arg)	5830	PEX5	Uncertain significance	-1	RCV003028294;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360280	7360280	NC_000012.11:g.7360280C>G	-
NM_001351132.2(PEX5):c.997C>T (p.Arg333Cys)	5830	PEX5	Uncertain significance	756565648	RCV000354996\|RCV001855090;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360285	7360285	12:g.7360285C>T	ClinGen:CA6426343	CN169374 not specified;
NM_001351132.2(PEX5):c.998G>A (p.Arg333His)	5830	PEX5	Benign	59209175	RCV000960644\|RCV001113427;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7360286	7360286	12:g.7360286G>A	-
NM_001351132.2(PEX5):c.998G>T (p.Arg333Leu)	5830	PEX5	Uncertain significance	59209175	RCV001302878;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360286	7360286	7360286	-
NM_001351132.2(PEX5):c.1011G>A (p.Gln337=)	5830	PEX5	Likely benign	2136226738	RCV001475717;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360299	7360299	7360299	-
NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp)	5830	PEX5	Uncertain significance	145762725	RCV000730755\|RCV001364914;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360318	7360318	NC_000012.11:g.7360318C>T	-
NM_001351132.2(PEX5):c.1031G>A (p.Arg344Gln)	5830	PEX5	Uncertain significance	892031813	RCV001364400;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360319	7360319	7360319	-
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)	5830	PEX5	Uncertain significance	199822160	RCV001113428\|RCV001226169\|RCV003246697;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7360321	7360321	12:g.7360321C>T	-
NM_001351132.2(PEX5):c.1037T>C (p.Leu346Pro)	5830	PEX5	Uncertain significance	2136227054	RCV001992487;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360325	7360325	7360325	-
NM_001351132.2(PEX5):c.1044G>T (p.Glu348Asp)	5830	PEX5	Uncertain significance	746001175	RCV000593733\|RCV001860166;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360332	7360332	12:g.7360332G>T	ClinGen:CA383730527	CN169374 not specified;
NM_001351132.2(PEX5):c.1047G>A (p.Gly349=)	5830	PEX5	Likely benign	2136227217	RCV002154276;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360335	7360335	7360335	-
NM_001351132.2(PEX5):c.1048G>A (p.Asp350Asn)	5830	PEX5	Uncertain significance	-1	RCV002295908;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360336	7360336	7360336	-
NM_001351132.2(PEX5):c.1051C>T (p.Leu351=)	5830	PEX5	Likely benign	-1	RCV003054450;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360339	7360339		-
NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro)	5830	PEX5	Uncertain significance	1220028381	RCV001313787\|RCV001336233;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7360340	7360340	7360340	-
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)	5830	PEX5	Benign/Likely benign	61740909	RCV000949355\|RCV001113429;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7360341	7360341	12:g.7360341G>A	-
NM_001351132.2(PEX5):c.1057A>G (p.Asn353Asp)	5830	PEX5	Uncertain significance	971400240	RCV001297462;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360345	7360345	7360345	-
NM_001351132.2(PEX5):c.1059T>C (p.Asn353=)	5830	PEX5	Likely benign	775565970	RCV000973897;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360347	7360347	12:g.7360347T>C	-
NM_001351132.2(PEX5):c.1061C>G (p.Ala354Gly)	5830	PEX5	Uncertain significance	-1	RCV003035831;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360349	7360349	NC_000012.11:g.7360349C>G	-
NM_001351132.2(PEX5):c.1065G>A (p.Val355=)	5830	PEX5	Likely benign	-1	RCV002923481;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360353	7360353		-
NM_001351132.2(PEX5):c.1080A>T (p.Ala360=)	5830	PEX5	Likely benign	776221090	RCV001394973;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360368	7360368	7360368	-
NM_001351132.2(PEX5):c.1082C>G (p.Ala361Gly)	5830	PEX5	Uncertain significance	-1	RCV002885756;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360370	7360370	NC_000012.11:g.7360370C>G	-
NM_001351132.2(PEX5):c.1092G>C (p.Gln364His)	5830	PEX5	Uncertain significance	-1	RCV002766562;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360380	7360380	NC_000012.11:g.7360380G>C	-
NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu)	5830	PEX5	Uncertain significance	764934631	RCV001233292;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360385	7360385	12:g.7360385C>T	-
NM_001351132.2(PEX5):c.1104C>T (p.His368=)	5830	PEX5	Likely benign	758018152	RCV001489538;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360392	7360392	7360392	-
NM_001351132.2(PEX5):c.1110+6_1110+7dup	5830	PEX5	Likely benign	749390755	RCV001472995;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360402	7360403	7360402	-
NM_001351132.2(PEX5):c.1110+5G>A	5830	PEX5	Uncertain significance	2136228030	RCV002023218;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360403	7360403	7360403	-
NM_001351132.2(PEX5):c.1110+9C>T	5830	PEX5	Likely benign	-1	RCV002628202;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360407	7360407	NC_000012.11:g.7360407C>T	-
NM_001351132.2(PEX5):c.1110+11C>T	5830	PEX5	Likely benign	1214830979	RCV002102751;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360409	7360409	7360409	-
NM_001351132.2(PEX5):c.1110+16G>A	5830	PEX5	Likely benign	372043071	RCV002219918;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360414	7360414	7360414	-
NM_001351132.2(PEX5):c.1110+18C>T	5830	PEX5	Likely benign	375982509	RCV002081941;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360416	7360416	7360416	-
NM_001351132.2(PEX5):c.1110+20C>T	5830	PEX5	Likely benign	1163912133	RCV002187439;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360418	7360418	7360418	-
NM_001351132.2(PEX5):c.1111-18C>T	5830	PEX5	Likely benign	1354941816	RCV002083077;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360588	7360588	7360588	-
NM_001351132.2(PEX5):c.1111-12A>G	5830	PEX5	Uncertain significance	371599161	RCV001113430\|RCV002558132;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360594	7360594	12:g.7360594A>G	-
NM_001351132.2(PEX5):c.1111-8C>T	5830	PEX5	Likely benign	-1	RCV002983020;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360598	7360598	NC_000012.11:g.7360598C>T	-
NM_001351132.2(PEX5):c.1111-4C>G	5830	PEX5	Conflicting interpretations of pathogenicity	376699778	RCV000591338\|RCV001078598;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360602	7360602	12:g.7360602C>G	ClinGen:CA6426373	CN169374 not specified;
NM_001351132.2(PEX5):c.1113T>C (p.Ala371=)	5830	PEX5	Likely benign	2136230382	RCV002147258;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360608	7360608	7360608	-
NM_001351132.2(PEX5):c.1119G>A (p.Gln373=)	5830	PEX5	Likely benign	369840046	RCV002200235;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360614	7360614	7360614	-
NM_001351132.2(PEX5):c.1125G>C (p.Leu375=)	5830	PEX5	Likely benign	762678346	RCV002065962;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360620	7360620	12:g.7360620G>C	-
NM_001351132.2(PEX5):c.1132A>G (p.Thr378Ala)	5830	PEX5	Uncertain significance	2136230585	RCV001983910;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360627	7360627	7360627	-
NM_001351132.2(PEX5):c.1134C>A (p.Thr378=)	5830	PEX5	Likely benign	142895892	RCV001467390;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360629	7360629	7360629	-
NM_001351132.2(PEX5):c.1143G>A (p.Glu381=)	5830	PEX5	Likely benign	2136230701	RCV001399079;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360638	7360638	7360638	-
NM_001351132.2(PEX5):c.1145A>G (p.Asn382Ser)	5830	PEX5	Uncertain significance	2136230724	RCV001944317;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360640	7360640	7360640	-
NM_001351132.2(PEX5):c.1151A>G (p.Gln384Arg)	5830	PEX5	Uncertain significance	2136230787	RCV001362829;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360646	7360646	7360646	-
NM_001351132.2(PEX5):c.1166_1168dup (p.Ile389dup)	5830	PEX5	Uncertain significance	774781585	RCV001359867;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360658	7360659	7360658	-
NM_001351132.2(PEX5):c.1173A>G (p.Ala391=)	5830	PEX5	Likely benign	1045943718	RCV001478477;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360668	7360668	7360668	-
NM_001351132.2(PEX5):c.1177C>T (p.Arg393Trp)	5830	PEX5	Uncertain significance	-1	RCV003074428\|RCV003269413;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7360672	7360672	NC_000012.11:g.7360672C>T	-
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)	5830	PEX5	Conflicting interpretations of pathogenicity	145690714	RCV000307470\|RCV001087319;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360673	7360673	12:g.7360673G>A	ClinGen:CA6426380	CN169374 not specified;
NM_001351132.2(PEX5):c.1181+4A>G	5830	PEX5	Uncertain significance	2136231209	RCV001934605;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360680	7360680	7360680	-
NM_001351132.2(PEX5):c.1181+9A>G	5830	PEX5	Likely benign	774173665	RCV002145806;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360685	7360685	7360685	-
NM_001351132.2(PEX5):c.1181+19G>A	5830	PEX5	Likely benign	-1	RCV003065974;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360695	7360695	NC_000012.11:g.7360695G>A	-
NM_001351132.2(PEX5):c.1181+20T>G	5830	PEX5	Likely benign	1945041920	RCV002159614;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7360696	7360696	7360696	-
NM_001351132.2(PEX5):c.1182-13C>T	5830	PEX5	Likely benign	767049899	RCV002186708;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361040	7361040	7361040	-
NM_001351132.2(PEX5):c.1182-9A>T	5830	PEX5	Likely benign	375860970	RCV001426955;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361044	7361044	7361044	-
NM_001351132.2(PEX5):c.1182-6A>T	5830	PEX5	Likely benign	1945095734	RCV001506652;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361047	7361047	7361047	-
NM_001351132.2(PEX5):c.1182G>A (p.Arg394=)	5830	PEX5	Uncertain significance	199624284	RCV001360543;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361053	7361053	7361053	-
NM_001351132.2(PEX5):c.1182G>T (p.Arg394Ser)	5830	PEX5	Uncertain significance	199624284	RCV001892112;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361053	7361053	7361053	-
NM_001351132.2(PEX5):c.1198C>T (p.Pro400Ser)	5830	PEX5	Uncertain significance	-1	RCV002663215;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361069	7361069	NC_000012.11:g.7361069C>T	-
NM_001351132.2(PEX5):c.1201G>A (p.Asp401Asn)	5830	PEX5	Uncertain significance	1945098580	RCV001990546;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361072	7361072	7361072	-
NM_001351132.2(PEX5):c.1202A>G (p.Asp401Gly)	5830	PEX5	Uncertain significance	-1	RCV002982125;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361073	7361073	NC_000012.11:g.7361073A>G	-
NM_001351132.2(PEX5):c.1206C>T (p.Asn402=)	5830	PEX5	Likely benign	-1	RCV003061247;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361077	7361077		-
NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile)	5830	PEX5	Uncertain significance	751774861	RCV001970646\|RCV002571236;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7361082	7361082	7361082	-
NM_001351132.2(PEX5):c.1215A>G (p.Ala405=)	5830	PEX5	Likely benign	-1	RCV002790484;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361086	7361086		-
NM_001351132.2(PEX5):c.1223C>T (p.Ala408Val)	5830	PEX5	Uncertain significance	1218031120	RCV002005463;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361094	7361094	7361094	-
NM_001351132.2(PEX5):c.1224G>A (p.Ala408=)	5830	PEX5	Likely benign	-1	RCV002785477;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361095	7361095		-
NM_001351132.2(PEX5):c.1229C>T (p.Ala410Val)	5830	PEX5	Uncertain significance	-1	RCV002680776;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361100	7361100	NC_000012.11:g.7361100C>T	-
NM_001351132.2(PEX5):c.1239C>T (p.Phe413=)	5830	PEX5	Likely benign	-1	RCV002771490;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361110	7361110		-
NM_001351132.2(PEX5):c.1241C>T (p.Thr414Ile)	5830	PEX5	Uncertain significance	1458919607	RCV002029334;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361112	7361112	7361112	-
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)	5830	PEX5	Conflicting interpretations of pathogenicity	138243167	RCV000153689\|RCV001085951;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361116	7361116	NC_000012.11:g.7361116C>T	ClinGen:CA234541	CN169374 not specified;
NM_001351132.2(PEX5):c.1246G>A (p.Glu416Lys)	5830	PEX5	Uncertain significance	1945105117	RCV001900021;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361117	7361117	7361117	-
NM_001351132.2(PEX5):c.1248G>A (p.Glu416=)	5830	PEX5	Likely benign	2136236014	RCV001478938;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361119	7361119	7361119	-
NM_001351132.2(PEX5):c.1252C>A (p.Leu418Met)	5830	PEX5	Uncertain significance	2136236124	RCV001917696;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361123	7361123	7361123	-
NM_001351132.2(PEX5):c.1254G>C (p.Leu418=)	5830	PEX5	Likely benign	989783550	RCV002204157;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361125	7361125	7361125	-
NM_001351132.2(PEX5):c.1254G>T (p.Leu418=)	5830	PEX5	Likely benign	-1	RCV003109153;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361125	7361125		-
NM_001351132.2(PEX5):c.1259G>A (p.Arg420Gln)	5830	PEX5	Uncertain significance	765532002	RCV002027989;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361130	7361130	7361130	-
NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val)	5830	PEX5	Uncertain significance	1945109944	RCV001231685;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361136	7361136	12:g.7361136C>T	-
NM_001351132.2(PEX5):c.1267T>C (p.Cys423Arg)	5830	PEX5	Uncertain significance	2136236516	RCV002049683;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361138	7361138	7361138	-
NM_001351132.2(PEX5):c.1273A>G (p.Thr425Ala)	5830	PEX5	Uncertain significance	141202824	RCV001370731;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361144	7361144	7361144	-
NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu)	5830	PEX5	Uncertain significance	774915360	RCV002568676\|RCV001247290;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361151	7361151	12:g.7361151G>T	-
NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln)	5830	PEX5	Uncertain significance	774915360	RCV001351858\|RCV002547540;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7361151	7361151	7361151	-
NM_001351132.2(PEX5):c.1282G>A (p.Asp428Asn)	5830	PEX5	Uncertain significance	-1	RCV003049831;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361153	7361153	NC_000012.11:g.7361153G>A	-
NM_001351132.2(PEX5):c.1288C>T (p.Leu430=)	5830	PEX5	Likely benign	1399663676	RCV002188279;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361159	7361159	7361159	-
NM_001351132.2(PEX5):c.1289T>C (p.Leu430Pro)	5830	PEX5	Uncertain significance	-1	RCV002700526;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361160	7361160	NC_000012.11:g.7361160T>C	-
NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp)	5830	PEX5	Uncertain significance	765682048	RCV000312965\|RCV001859666;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361162	7361162	12:g.7361162C>T	ClinGen:CA6426418	CN169374 not specified;
NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln)	5830	PEX5	Uncertain significance	144901507	RCV000728572\|RCV001206481;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361163	7361163	NC_000012.11:g.7361163G>A	-
NM_001351132.2(PEX5):c.1293G>A (p.Arg431=)	5830	PEX5	Likely benign	1242502801	RCV001414890;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361164	7361164	7361164	-
NM_001351132.2(PEX5):c.1312C>T (p.His438Tyr)	5830	PEX5	Uncertain significance	2136237273	RCV002000855;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361183	7361183	7361183	-
NM_001351132.2(PEX5):c.1315C>A (p.Leu439Met)	5830	PEX5	Uncertain significance	756242143	RCV001315345;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361186	7361186	7361186	-
NM_001351132.2(PEX5):c.1315C>T (p.Leu439=)	5830	PEX5	Likely benign	756242143	RCV002165286;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361186	7361186	7361186	-
NM_001351132.2(PEX5):c.1321A>G (p.Thr441Ala)	5830	PEX5	Uncertain significance	2136237401	RCV001988434;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361192	7361192	7361192	-
NM_001351132.2(PEX5):c.1322C>T (p.Thr441Ile)	5830	PEX5	Uncertain significance	777898843	RCV000592760\|RCV001313413;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361193	7361193	12:g.7361193C>T	ClinGen:CA6426426	CN169374 not specified;
NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln)	5830	PEX5	Uncertain significance	1405389869	RCV001247897;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361204	7361204	12:g.7361204G>C	-
NM_001351132.2(PEX5):c.1338G>A (p.Gly446=)	5830	PEX5	Likely benign	1359071852	RCV001429828;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361209	7361209	7361209	-
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)	5830	PEX5	Conflicting interpretations of pathogenicity	778715159	RCV001113431\|RCV001459094;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361218	7361218	12:g.7361218G>C	-
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)	5830	PEX5	Uncertain significance	148266027	RCV001250114\|RCV001308343;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361223	7361223	12:g.7361223G>A	-
NM_001351132.2(PEX5):c.1356G>C (p.Leu452=)	5830	PEX5	Likely benign	1945126491	RCV002125265;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361227	7361227	7361227	-
NM_001351132.2(PEX5):c.1357G>A (p.Gly453Ser)	5830	PEX5	Uncertain significance	1190413911	RCV001906866;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361228	7361228	7361228	-
NM_001351132.2(PEX5):c.1365C>A (p.Ser455Arg)	5830	PEX5	Uncertain significance	1383386030	RCV001964355;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361236	7361236	7361236	-
NM_001351132.2(PEX5):c.1370G>A (p.Arg457His)	5830	PEX5	Uncertain significance	758827048	RCV002011907;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361241	7361241	7361241	-
NM_001351132.2(PEX5):c.1375C>G (p.Leu459Val)	5830	PEX5	Uncertain significance	375947901	RCV001296938;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361246	7361246	7361246	-
NM_001351132.2(PEX5):c.1380A>T (p.Gly460=)	5830	PEX5	Likely benign	2136238100	RCV001460056;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361251	7361251	7361251	-
NM_001351132.2(PEX5):c.1381T>A (p.Ser461Thr)	5830	PEX5	Uncertain significance	369698308	RCV001873121\|RCV002551152;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7361252	7361252	7361252	-
NM_001351132.2(PEX5):c.1384C>T (p.Leu462Phe)	5830	PEX5	Uncertain significance	774709242	RCV002024619;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361255	7361255	7361255	-
NM_001351132.2(PEX5):c.1384C>G (p.Leu462Val)	5830	PEX5	Uncertain significance	774709242	RCV001912072;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361255	7361255	7361255	-
NM_001351132.2(PEX5):c.1386C>G (p.Leu462=)	5830	PEX5	Likely benign	-1	RCV003117174;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361257	7361257		-
NM_001351132.2(PEX5):c.1388T>C (p.Leu463Ser)	5830	PEX5	Uncertain significance	2136238274	RCV002008769;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361259	7361259	7361259	-
NM_001351132.2(PEX5):c.1391C>T (p.Ser464Phe)	5830	PEX5	Uncertain significance	-1	RCV003043482;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361262	7361262	NC_000012.11:g.7361262C>T	-
NM_001351132.2(PEX5):c.1392T>C (p.Ser464=)	5830	PEX5	Likely benign	2136238346	RCV001469469;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361263	7361263	7361263	-
NM_001351132.2(PEX5):c.1394+9del	5830	PEX5	Likely benign	-1	RCV002806800;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361274	7361274	NC_000012.11:g.7361274del	-
NM_001351132.2(PEX5):c.1394+14dup	5830	PEX5	Benign	1186018434	RCV002116123;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361275	7361276	7361275	-
NM_001351132.2(PEX5):c.1394+13G>A	5830	PEX5	Likely benign	766780389	RCV002109367;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361278	7361278	7361278	-
NM_001351132.2(PEX5):c.1394+14G>T	5830	PEX5	Likely benign	756329980	RCV002112382;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361279	7361279	7361279	-
NM_001351132.2(PEX5):c.1394+15T>C	5830	PEX5	Likely benign	1439543112	RCV002164877;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361280	7361280	7361280	-
NM_001351132.2(PEX5):c.1394+18C>T	5830	PEX5	Likely benign	148648526	RCV002208018;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361283	7361283	7361283	-
NM_001351132.2(PEX5):c.1395-14T>C	5830	PEX5	Conflicting interpretations of pathogenicity	1945174737	RCV001113432\|RCV002069829;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361587	7361587	12:g.7361587T>C	-
NM_001351132.2(PEX5):c.1395-7C>T	5830	PEX5	Likely benign	771862091	RCV001478010;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361594	7361594	7361594	-
NM_001351132.2(PEX5):c.1395C>A (p.Asp465Glu)	5830	PEX5	Uncertain significance	772561166	RCV000596598\|RCV001860157;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361601	7361601	12:g.7361601C>A	ClinGen:CA6426458	CN169374 not specified;
NM_001351132.2(PEX5):c.1395C>T (p.Asp465=)	5830	PEX5	Uncertain significance	-1	RCV002790788;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361601	7361601		-
NM_001351132.2(PEX5):c.1413G>C (p.Val471=)	5830	PEX5	Conflicting interpretations of pathogenicity	115760878	RCV000174708\|RCV001078686\|RCV001113433;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7361619	7361619	12:g.7361619G>C	ClinGen:CA240282	CN169374 not specified;
NM_001351132.2(PEX5):c.1413G>A (p.Val471=)	5830	PEX5	Likely benign	115760878	RCV001459793;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361619	7361619	7361619	-
NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp)	5830	PEX5	Uncertain significance	1945181377	RCV001048591;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361625	7361625	12:g.7361625G>T	-
NM_001351132.2(PEX5):c.1419G>A (p.Glu473=)	5830	PEX5	Likely benign	1945181377	RCV001500388;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361625	7361625	7361625	-
NM_001351132.2(PEX5):c.1430C>A (p.Ala477Glu)	5830	PEX5	Uncertain significance	779806201	RCV001963546;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361636	7361636	7361636	-
NM_001351132.2(PEX5):c.1435G>C (p.Val479Leu)	5830	PEX5	Uncertain significance	751226125	RCV001898500;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361641	7361641	7361641	-
NM_001351132.2(PEX5):c.1438C>T (p.Arg480Trp)	5830	PEX5	Uncertain significance	-1	RCV002766793;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361644	7361644	NC_000012.11:g.7361644C>T	-
NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln)	5830	PEX5	Uncertain significance	759523235	RCV000732963\|RCV001050123;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361645	7361645	NC_000012.11:g.7361645G>A	-
NM_001351132.2(PEX5):c.1462C>A (p.Pro488Thr)	5830	PEX5	Uncertain significance	-1	RCV002295390;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361668	7361668	7361668	-
NM_001351132.2(PEX5):c.1462C>G (p.Pro488Ala)	5830	PEX5	Uncertain significance	-1	RCV002585999;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361668	7361668	NC_000012.11:g.7361668C>G	-
NM_001351132.2(PEX5):c.1464T>C (p.Pro488=)	5830	PEX5	Likely benign	1308021155	RCV001428118;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361670	7361670	7361670	-
NM_001351132.2(PEX5):c.1470G>A (p.Val490=)	5830	PEX5	Likely benign	2136243242	RCV002196410;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361676	7361676	7361676	-
NM_001351132.2(PEX5):c.1480T>C (p.Leu494=)	5830	PEX5	Likely benign	1199150044	RCV001477501;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361686	7361686	7361686	-
NM_001351132.2(PEX5):c.1482G>A (p.Leu494=)	5830	PEX5	Likely benign	1591799831	RCV001430284;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361688	7361688	7361688	-
NM_001351132.2(PEX5):c.1489C>A (p.Leu497Ile)	5830	PEX5	Uncertain significance	2136243573	RCV002003046;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361695	7361695	7361695	-
NM_001351132.2(PEX5):c.1493T>G (p.Phe498Cys)	5830	PEX5	Uncertain significance	772579298	RCV001297362;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361699	7361699	7361699	-
NM_001351132.2(PEX5):c.1513G>A (p.Asp505Asn)	5830	PEX5	Uncertain significance	775935095	RCV001914213;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361719	7361719	7361719	-
NM_001351132.2(PEX5):c.1513G>C (p.Asp505His)	5830	PEX5	Uncertain significance	-1	RCV002838975;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361719	7361719	NC_000012.11:g.7361719G>C	-
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)	5830	PEX5	Conflicting interpretations of pathogenicity	150761638	RCV000301107\|RCV000910717\|RCV001200577;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:C3661900	12	7361727	7361727	NC_000012.11:g.7361727C>T	ClinGen:CA6426476	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met)	5830	PEX5	Uncertain significance	138028549	RCV000358283\|RCV000591212\|RCV001066250;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361728	7361728	NC_000012.11:g.7361728G>A	ClinGen:CA6426477	CN169374 not specified;
NM_001351132.2(PEX5):c.1528T>A (p.Cys510Ser)	5830	PEX5	Uncertain significance	1945199025	RCV002020363;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361734	7361734	7361734	-
NM_001351132.2(PEX5):c.1530C>T (p.Cys510=)	5830	PEX5	Likely benign	2136244291	RCV002075269;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361736	7361736	7361736	-
NM_001351132.2(PEX5):c.1543C>G (p.Leu515Val)	5830	PEX5	Uncertain significance	370984432	RCV002019356;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361749	7361749	7361749	-
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)	5830	PEX5	Conflicting interpretations of pathogenicity	762815657	RCV001114828\|RCV002556250;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361751	7361751	12:g.7361751C>T	-
NM_001351132.2(PEX5):c.1548C>T (p.Ser516=)	5830	PEX5	Conflicting interpretations of pathogenicity	143571888	RCV000594556\|RCV001079795;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361754	7361754	12:g.7361754C>T	ClinGen:CA6426482	CN169374 not specified;
NM_001351132.2(PEX5):c.1549G>A (p.Val517Ile)	5830	PEX5	Uncertain significance	201596535	RCV000370313\|RCV001374328;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361755	7361755	12:g.7361755G>A	ClinGen:CA6426483	CN169374 not specified;
NM_001351132.2(PEX5):c.1552C>T (p.Arg518Cys)	5830	PEX5	Uncertain significance	182028506	RCV001926752;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361758	7361758	7361758	-
NM_001351132.2(PEX5):c.1553G>A (p.Arg518His)	5830	PEX5	Uncertain significance	146183061	RCV001885682;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361759	7361759	7361759	-
NM_001351132.2(PEX5):c.1560T>C (p.Asn520=)	5830	PEX5	Uncertain significance	140330381	RCV001911810;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361766	7361766	7361766	-
NM_001351132.2(PEX5):c.1560+6C>T	5830	PEX5	Uncertain significance	1945208210	RCV001888640;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361772	7361772	7361772	-
NM_001351132.2(PEX5):c.1560+12G>A	5830	PEX5	Likely benign	375427005	RCV002137059;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361778	7361778	7361778	-
NM_001351132.2(PEX5):c.1560+19T>A	5830	PEX5	Likely benign	772671180	RCV002133756;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7361785	7361785	7361785	-
NM_001351132.2(PEX5):c.1561-20G>A	5830	PEX5	Likely benign	753353124	RCV002095186;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362259	7362259	7362259	-
NM_001351132.2(PEX5):c.1561-14C>T	5830	PEX5	Likely benign	-1	RCV002952643;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362265	7362265	NC_000012.11:g.7362265C>T	-
NM_001351132.2(PEX5):c.1561-6T>C	5830	PEX5	Likely benign	-1	RCV003061917;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362273	7362273	NC_000012.11:g.7362273T>C	-
NM_001351132.2(PEX5):c.1561-5C>G	5830	PEX5	Likely benign	-1	RCV003067097;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362274	7362274	NC_000012.11:g.7362274C>G	-
NM_001351132.2(PEX5):c.1561-3C>T	5830	PEX5	Uncertain significance	-1	RCV003045628;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362276	7362276	NC_000012.11:g.7362276C>T	-
NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys)	5830	PEX5	Uncertain significance	1205322300	RCV001902897\|RCV002555239;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7362283	7362283	7362283	-
NM_001351132.2(PEX5):c.1567T>C (p.Leu523=)	5830	PEX5	Conflicting interpretations of pathogenicity	144165818	RCV000079504\|RCV001082292;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362285	7362285	12:g.7362285T>C	ClinGen:CA221512	CN169374 not specified;
NM_001351132.2(PEX5):c.1582C>G (p.Leu528Val)	5830	PEX5	Uncertain significance	-1	RCV002811753;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362300	7362300	NC_000012.11:g.7362300C>G	-
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)	5830	PEX5	Conflicting interpretations of pathogenicity	144401814	RCV000304501\|RCV000733444\|RCV001455994;	N	MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100\|MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362305	7362305	NC_000012.11:g.7362305C>T	ClinGen:CA6426525	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1588G>A (p.Ala530Thr)	5830	PEX5	Uncertain significance	1591804566	RCV001908626;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362306	7362306	7362306	-
NM_001351132.2(PEX5):c.1592C>A (p.Thr531Asn)	5830	PEX5	Uncertain significance	1945293420	RCV001898588;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362310	7362310	7362310	-
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser)	5830	PEX5	Uncertain significance	749417845	RCV001114829\|RCV001856511;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362325	7362325	12:g.7362325A>G	-
NM_001351132.2(PEX5):c.1610A>G (p.Gln537Arg)	5830	PEX5	Uncertain significance	-1	RCV002607987;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362328	7362328	NC_000012.11:g.7362328A>G	-
NM_001351132.2(PEX5):c.1611G>C (p.Gln537His)	5830	PEX5	Uncertain significance	-1	RCV002627728;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362329	7362329	NC_000012.11:g.7362329G>C	-
NM_001351132.2(PEX5):c.1618G>A (p.Glu540Lys)	5830	PEX5	Uncertain significance	977141805	RCV001923811;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362336	7362336	7362336	-
NM_001351132.2(PEX5):c.1619A>G (p.Glu540Gly)	5830	PEX5	Uncertain significance	1460981277	RCV001898041;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362337	7362337	7362337	-
NM_001351132.2(PEX5):c.1620A>C (p.Glu540Asp)	5830	PEX5	Uncertain significance	-1	RCV002296512;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362338	7362338	7362338	-
NM_001351132.2(PEX5):c.1629T>C (p.Ala543=)	5830	PEX5	Likely benign	2136255855	RCV002120934;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362347	7362347	7362347	-
NM_001351132.2(PEX5):c.1631C>T (p.Ala544Val)	5830	PEX5	Uncertain significance	-1	RCV002643525;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362349	7362349	NC_000012.11:g.7362349C>T	-
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=)	5830	PEX5	Benign	115338343	RCV000249112\|RCV000361805\|RCV000970241;	N	MedGen:CN169374\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362350	7362350	12:g.7362350G>A	ClinGen:CA6426528	CN169374 not specified;
NM_001351132.2(PEX5):c.1632G>C (p.Ala544=)	5830	PEX5	Likely benign	115338343	RCV001463352;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362350	7362350	7362350	-
NM_001351132.2(PEX5):c.1632G>T (p.Ala544=)	5830	PEX5	Likely benign	115338343	RCV002174837;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362350	7362350	7362350	-
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys)	5830	PEX5	Uncertain significance	759334733	RCV000685368\|RCV001114830\|RCV002462016\|RCV002531438;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	12	7362354	7362354	12:g.7362354C>T	-	C0282525 202370 Neonatal adrenoleucodystrophy;
NM_001351132.2(PEX5):c.1637G>A (p.Arg546His)	5830	PEX5	Uncertain significance	375588538	RCV002034136;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362355	7362355	7362355	-
NM_001351132.2(PEX5):c.1638C>T (p.Arg546=)	5830	PEX5	Conflicting interpretations of pathogenicity	142408719	RCV000591059\|RCV001079091;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362356	7362356	12:g.7362356C>T	ClinGen:CA6426532	CN169374 not specified;
NM_001351132.2(PEX5):c.1639C>T (p.Arg547Trp)	5830	PEX5	Uncertain significance	760402644	RCV001967220;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362357	7362357	7362357	-
NM_001351132.2(PEX5):c.1640G>A (p.Arg547Gln)	5830	PEX5	Uncertain significance	371462892	RCV002014521;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362358	7362358	7362358	-
NM_001351132.2(PEX5):c.1644C>T (p.Ala548=)	5830	PEX5	Likely benign	920189030	RCV002099437;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362362	7362362	7362362	-
NM_001351132.2(PEX5):c.1647C>T (p.Leu549=)	5830	PEX5	Conflicting interpretations of pathogenicity	753512677	RCV000734917\|RCV001474199;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362365	7362365	NC_000012.11:g.7362365C>T	-
NM_001351132.2(PEX5):c.1651C>T (p.Leu551Phe)	5830	PEX5	Uncertain significance	2136256584	RCV002006753;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362369	7362369	7362369	-
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)	5830	PEX5	Conflicting interpretations of pathogenicity	200215904	RCV000326811\|RCV001510511;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362371	7362371	12:g.7362371C>G	ClinGen:CA6426536	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1653C>T (p.Leu551=)	5830	PEX5	Likely benign	200215904	RCV002168970\|RCV003395414;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:C3661900	12	7362371	7362371	7362371	-
NM_001351132.2(PEX5):c.1656G>T (p.Gln552His)	5830	PEX5	Uncertain significance	-1	RCV002761349;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362374	7362374	NC_000012.11:g.7362374G>T	-
NM_001351132.2(PEX5):c.1660G>A (p.Gly554Ser)	5830	PEX5	Uncertain significance	-1	RCV002602952;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362378	7362378	NC_000012.11:g.7362378G>A	-
NM_001351132.2(PEX5):c.1664A>G (p.Tyr555Cys)	5830	PEX5	Uncertain significance	1169699895	RCV002019165;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362382	7362382	7362382	-
NM_001351132.2(PEX5):c.1665T>C (p.Tyr555=)	5830	PEX5	Likely benign	781643068	RCV002167342;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362383	7362383	7362383	-
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp)	5830	PEX5	Uncertain significance	1281539463	RCV001320722\|RCV001806118\|RCV003230661;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:CN517202\|MedGen:CN169374	12	7362387	7362387	7362387	-
NM_001351132.2(PEX5):c.1670G>A (p.Arg557Gln)	5830	PEX5	Uncertain significance	-1	RCV002976569;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362388	7362388	NC_000012.11:g.7362388G>A	-
NM_001351132.2(PEX5):c.1674C>T (p.Ser558=)	5830	PEX5	Likely benign	-1	RCV002835260;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362392	7362392		-
NM_001351132.2(PEX5):c.1675C>T (p.Arg559Cys)	5830	PEX5	Uncertain significance	-1	RCV002603004\|RCV002603005;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7362393	7362393	NC_000012.11:g.7362393C>T	-
NM_001351132.2(PEX5):c.1677C>T (p.Arg559=)	5830	PEX5	Likely benign	756477662	RCV002218635;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362395	7362395	7362395	-
NM_001351132.2(PEX5):c.1679A>G (p.Tyr560Cys)	5830	PEX5	Uncertain significance	-1	RCV003082010;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362397	7362397	NC_000012.11:g.7362397A>G	-
NM_001351132.2(PEX5):c.1684C>G (p.Leu562Val)	5830	PEX5	Uncertain significance	1945310790	RCV001876654;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362402	7362402	7362402	-
NM_001351132.2(PEX5):c.1687G>T (p.Gly563Cys)	5830	PEX5	Uncertain significance	-1	RCV003048102;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362405	7362405	NC_000012.11:g.7362405G>T	-
NM_001351132.2(PEX5):c.1689C>T (p.Gly563=)	5830	PEX5	Likely benign	376612398	RCV001305534;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362407	7362407	7362407	-
NM_001351132.2(PEX5):c.1690A>G (p.Ile564Val)	5830	PEX5	Uncertain significance	778897851	RCV001301045;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362408	7362408	7362408	-
NM_001351132.2(PEX5):c.1691T>C (p.Ile564Thr)	5830	PEX5	Uncertain significance	1945312349	RCV001997889;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362409	7362409	7362409	-
NM_001351132.2(PEX5):c.1695C>T (p.Ser565=)	5830	PEX5	Likely benign	755547376	RCV001422945;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362413	7362413	12:g.7362413C>T	-
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)	5830	PEX5	Conflicting interpretations of pathogenicity	151312595	RCV000290125\|RCV001087261\|RCV001114831;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7362425	7362425	12:g.7362425C>T	ClinGen:CA6426550	CN169374 not specified;
NM_001351132.2(PEX5):c.1708G>A (p.Gly570Arg)	5830	PEX5	Uncertain significance	-1	RCV002715176;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362426	7362426	NC_000012.11:g.7362426G>A	-
NM_001351132.2(PEX5):c.1717C>T (p.Arg573Trp)	5830	PEX5	Uncertain significance	-1	RCV002785460;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362435	7362435	NC_000012.11:g.7362435C>T	-
NM_001351132.2(PEX5):c.1718G>A (p.Arg573Gln)	5830	PEX5	Uncertain significance	776481733	RCV001342196;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362436	7362436	7362436	-
NM_001351132.2(PEX5):c.1718+5G>A	5830	PEX5	Conflicting interpretations of pathogenicity	1085307998	RCV000489259\|RCV002526044;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362441	7362441	12:g.7362441G>A	ClinGen:CA603488602	CN517202 not provided;
NM_001351132.2(PEX5):c.1718+6A>C	5830	PEX5	Uncertain significance	764840661	RCV002016207;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362442	7362442	7362442	-
NM_001351132.2(PEX5):c.1718+11_1718+14dup	5830	PEX5	Likely benign	749232654	RCV001463537;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362443	7362444	7362443	-
NM_001351132.2(PEX5):c.1718+7G>A	5830	PEX5	Likely benign	-1	RCV002676460;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362443	7362443	NC_000012.11:g.7362443G>A	-
NM_001351132.2(PEX5):c.1718+11_1718+14del	5830	PEX5	Likely benign	749232654	RCV002090086;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362444	7362447	7362443	-
NM_001351132.2(PEX5):c.1718+9_1718+10del	5830	PEX5	Likely benign	1276135396	RCV002120332;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362444	7362445	7362443	-
NM_001351132.2(PEX5):c.1718+9A>G	5830	PEX5	Likely benign	1945321190	RCV002132876;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362445	7362445	7362445	-
NM_001351132.2(PEX5):c.1718+13A>G	5830	PEX5	Benign/Likely benign	116873137	RCV000253917\|RCV000365173\|RCV001518737\|RCV001582817;	N	MedGen:CN169374\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:C3661900	12	7362449	7362449	12:g.7362449A>G	ClinGen:CA6426559	CN169374 not specified;
NM_001351132.2(PEX5):c.1718+17A>G	5830	PEX5	Likely benign	375272295	RCV000245730\|RCV001415282;	N	MedGen:CN169374\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362453	7362453	12:g.7362453A>G	ClinGen:CA6426561	CN169374 not specified;
NM_001351132.2(PEX5):c.1719-10_1719-8del	5830	PEX5	Likely benign	1244659564	RCV002184970;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362603	7362605	7362602	-
NM_001351132.2(PEX5):c.1719-13T>C	5830	PEX5	Likely benign	1441424289	RCV002106054;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362605	7362605	7362605	-
NM_001351132.2(PEX5):c.1719-4A>T	5830	PEX5	Likely benign	-1	RCV002934014;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362614	7362614	NC_000012.11:g.7362614A>T	-
NM_001351132.2(PEX5):c.1728G>A (p.Val576=)	5830	PEX5	Likely benign	-1	RCV002691233;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362627	7362627		-
NM_001351132.2(PEX5):c.1740G>A (p.Leu580=)	5830	PEX5	Likely benign	2136262978	RCV002083741;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362639	7362639	7362639	-
NM_001351132.2(PEX5):c.1744G>T (p.Ala582Ser)	5830	PEX5	Uncertain significance	2136263113	RCV002006816;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362643	7362643	7362643	-
NM_001351132.2(PEX5):c.1746C>T (p.Ala582=)	5830	PEX5	Likely benign	1565723752	RCV002113101;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362645	7362645	7362645	-
NM_001351132.2(PEX5):c.1752C>T (p.Asn584=)	5830	PEX5	Likely benign	1165878236	RCV002133174;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362651	7362651	7362651	-
NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp)	5830	PEX5	Uncertain significance	139347001	RCV001239151;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362667	7362667	12:g.7362667C>T	-
NM_001351132.2(PEX5):c.1768C>A (p.Arg590=)	5830	PEX5	Likely benign	-1	RCV002858400;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362667	7362667		-
NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln)	5830	PEX5	Uncertain significance	779049461	RCV001068153;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362668	7362668	12:g.7362668G>A	-
NM_001351132.2(PEX5):c.1769G>C (p.Arg590Pro)	5830	PEX5	Uncertain significance	-1	RCV002975094\|RCV002975095;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362668	7362668	NC_000012.11:g.7362668G>C	-
NM_001351132.2(PEX5):c.1773C>A (p.Gly591=)	5830	PEX5	Likely benign	-1	RCV003078177;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362672	7362672		-
NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp)	5830	PEX5	Uncertain significance	144333076	RCV001046296\|RCV002553140;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7362676	7362676	12:g.7362676C>T	-
NM_001351132.2(PEX5):c.1777C>A (p.Arg593=)	5830	PEX5	Likely benign	-1	RCV003053803;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362676	7362676		-
NM_001351132.2(PEX5):c.1778G>C (p.Arg593Pro)	5830	PEX5	Uncertain significance	-1	RCV002303672;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362677	7362677	7362677	-
NM_001351132.2(PEX5):c.1790G>A (p.Gly597Asp)	5830	PEX5	Uncertain significance	772805558	RCV001369467;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362689	7362689	7362689	-
NM_001351132.2(PEX5):c.1794C>T (p.Ala598=)	5830	PEX5	Likely benign	778329472	RCV001451483;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362693	7362693	7362693	-
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu)	5830	PEX5	Conflicting interpretations of pathogenicity	748956654	RCV000480471\|RCV001856846;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362698	7362698	12:g.7362698C>T	ClinGen:CA6426593	CN517202 not provided;
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)	5830	PEX5	Conflicting interpretations of pathogenicity	370306007	RCV000903111\|RCV001109187;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7362699	7362699	12:g.7362699G>A	-
NM_001351132.2(PEX5):c.1806C>T (p.Asn602=)	5830	PEX5	Likely benign	1414114941	RCV002106951;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362705	7362705	7362705	-
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)	5830	PEX5	Uncertain significance	146567534	RCV000175024\|RCV000329888\|RCV000660592\|RCV001046733\|RCV002516657;	N	MedGen:C3661900\|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717; MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orph	12	7362713	7362713	NC_000012.11:g.7362713G>A	ClinGen:CA240687	C0282525 202370 Neonatal adrenoleucodystrophy;
NM_001351132.2(PEX5):c.1819C>G (p.Leu607Val)	5830	PEX5	Uncertain significance	1945371383	RCV001342339;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362718	7362718	7362718	-
NM_001351132.2(PEX5):c.1822C>T (p.Arg608Cys)	5830	PEX5	Uncertain significance	372635542	RCV000593254\|RCV001342978;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362721	7362721	12:g.7362721C>T	ClinGen:CA6426596	CN169374 not specified;
NM_001351132.2(PEX5):c.1823G>A (p.Arg608His)	5830	PEX5	Uncertain significance	201158549	RCV001919347\|RCV002077343;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MedGen:C3661900	12	7362722	7362722	7362722	-
NM_001351132.2(PEX5):c.1831T>G (p.Leu611Val)	5830	PEX5	Uncertain significance	200266963	RCV001896959;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362730	7362730	7362730	-
NM_001351132.2(PEX5):c.1837A>G (p.Met613Val)	5830	PEX5	Uncertain significance	765623850	RCV001064660;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362736	7362736	12:g.7362736A>G	-
NM_001351132.2(PEX5):c.1839G>A (p.Met613Ile)	5830	PEX5	Uncertain significance	750620715	RCV001964088;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362738	7362738	7362738	-
NM_001351132.2(PEX5):c.1845C>A (p.Gly615=)	5830	PEX5	Likely benign	-1	RCV003024901;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362744	7362744		-
NM_001351132.2(PEX5):c.1848G>A (p.Gln616=)	5830	PEX5	Conflicting interpretations of pathogenicity	551068158	RCV000729818\|RCV001403463;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362747	7362747	NC_000012.11:g.7362747G>A	-
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr)	5830	PEX5	Uncertain significance	751637149	RCV000386857\|RCV002520837;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362749	7362749	12:g.7362749G>C	ClinGen:CA6426603	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1850G>T (p.Ser617Ile)	5830	PEX5	Uncertain significance	751637149	RCV001344797;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362749	7362749	7362749	-
NM_001351132.2(PEX5):c.1851C>T (p.Ser617=)	5830	PEX5	Likely benign	755085818	RCV001448778;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362750	7362750	12:g.7362750C>T	-
NM_001351132.2(PEX5):c.1852G>A (p.Asp618Asn)	5830	PEX5	Uncertain significance	-1	RCV002932454;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362751	7362751	NC_000012.11:g.7362751G>A	-
NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His)	5830	PEX5	Uncertain significance	141242661	RCV001245631;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362757	7362757	12:g.7362757T>C	-
NM_001351132.2(PEX5):c.1859A>G (p.Tyr620Cys)	5830	PEX5	Uncertain significance	2136266140	RCV001983616;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362758	7362758	7362758	-
NM_001351132.2(PEX5):c.1866_1868del (p.Ala623del)	5830	PEX5	Uncertain significance	-1	RCV002839176;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362763	7362765	NC_000012.11:g.7362765_7362767del	-
NM_001351132.2(PEX5):c.1869C>T (p.Ala623=)	5830	PEX5	Likely benign	755919579	RCV000906767;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362768	7362768	12:g.7362768C>T	-
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn)	5830	PEX5	Uncertain significance	201963167	RCV001980432\|RCV002479686;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717; MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912	12	7362769	7362769	7362769	-
NM_001351132.2(PEX5):c.1872C>T (p.Asp624=)	5830	PEX5	Conflicting interpretations of pathogenicity	148914171	RCV000596451\|RCV001078635;	N	MedGen:C3661900\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362771	7362771	12:g.7362771C>T	ClinGen:CA6426609	CN169374 not specified;
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr)	5830	PEX5	Uncertain significance	143600154	RCV000294906\|RCV001321807\|RCV002522253;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7362772	7362772	12:g.7362772G>A	ClinGen:CA6426610	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val)	5830	PEX5	Uncertain significance	773854263	RCV001055420\|RCV003339447;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7362773	7362773	12:g.7362773C>T	-
NM_001351132.2(PEX5):c.1874C>A (p.Ala625Glu)	5830	PEX5	Uncertain significance	-1	RCV002795014;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362773	7362773	NC_000012.11:g.7362773C>A	-
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)	5830	PEX5	Conflicting interpretations of pathogenicity	371233272	RCV000333533\|RCV001431944;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362774	7362774	12:g.7362774G>A	ClinGen:CA6426613	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1877_1915dup (p.Pro638_Gln639insArgAspLeuSerThrLeuLeuThrMetPheGlyLeuPro)	5830	PEX5	Uncertain significance	-1	RCV003052297;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362774	7362775	NC_000012.11:g.7362776_7362814dup	-
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp)	5830	PEX5	Uncertain significance	148040746	RCV001109188\|RCV001862872;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362775	7362775	12:g.7362775C>T	-
NM_001351132.2(PEX5):c.1877G>A (p.Arg626Gln)	5830	PEX5	Uncertain significance	762252851	RCV001910085;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362776	7362776	7362776	-
NM_001351132.2(PEX5):c.1887C>T (p.Ser629=)	5830	PEX5	Likely benign	-1	RCV003049640;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362786	7362786		-
NM_001351132.2(PEX5):c.1890C>T (p.Thr630=)	5830	PEX5	Likely benign	779933516	RCV001446147;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362789	7362789	12:g.7362789C>T	-
NM_001351132.2(PEX5):c.1893C>T (p.Leu631=)	5830	PEX5	Likely benign	143610074	RCV002095178;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362792	7362792	7362792	-
NM_001351132.2(PEX5):c.1897_1900del (p.Thr633fs)	5830	PEX5	Uncertain significance	1183517073	RCV001344476;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362793	7362796	7362792	-
NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro)	5830	PEX5	Uncertain significance	200471952	RCV000728630\|RCV001058808\|RCV002535082;	N	MedGen:CN517202\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MeSH:D030342,MedGen:C0950123	12	7362796	7362796	NC_000012.11:g.7362796A>C	-
NM_001351132.2(PEX5):c.1900A>G (p.Met634Val)	5830	PEX5	Uncertain significance	766669738	RCV001936590;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362799	7362799	7362799	-
NM_001351132.2(PEX5):c.1901T>G (p.Met634Arg)	5830	PEX5	Uncertain significance	751798701	RCV001370499;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362800	7362800	7362800	-
NM_001351132.2(PEX5):c.1903_1906del (p.Phe635fs)	5830	PEX5	Uncertain significance	-1	RCV002810217;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362800	7362803	NC_000012.11:g.7362802_7362805del	-
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)	5830	PEX5	Uncertain significance	145886418	RCV000371902\|RCV001202630\|RCV003147446;	N	MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912\|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44\|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717	12	7362801	7362801	12:g.7362801G>A	ClinGen:CA6426621	C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1909C>T (p.Leu637=)	5830	PEX5	Likely benign	2136267479	RCV002179088;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362808	7362808	7362808	-
NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg)	5830	PEX5	Uncertain significance	138706552	RCV001207780;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362812	7362812	12:g.7362812C>G	-
NM_001351132.2(PEX5):c.1913C>T (p.Pro638Leu)	5830	PEX5	Uncertain significance	138706552	RCV001936849;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362812	7362812	7362812	-
NM_001351132.2(PEX5):c.1917G>C (p.Gln639His)	5830	PEX5	Uncertain significance	1271426444	RCV002004903;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	12	7362816	7362816	7362816	-
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)	5190	PEX6	Likely pathogenic	-1	RCV003128093;	N	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370, Orphanet:44	6	42937631	42937633	NC_000006.11:g.42937631AGG[1]	-

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