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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Peroxisomal Disorders (D018901)
..Starting node ..PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
Child Nodes:
Sister Nodes:
..Acatalasia (D020642)
..Adrenoleukodystrophy (D000326) 4
..Bile acid synthesis defect, congenital, 4 (C535444)
..Chondrodysplasia Punctata, Rhizomelic (D018902) 3
..Mevalonate Kinase Deficiency (D054078)
..PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
..PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
..PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
..PEROXISOME BIOGENESIS DISORDER 11B (OMIM:614885)
..PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
..PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) (OMIM:614887)
..PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
..PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
..PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
..PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
..PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
..PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
..PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
..PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
..PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
..PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) (OMIM:614872)
..PEROXISOME BIOGENESIS DISORDER 7B (OMIM:614873)
..PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
..PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
..PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
..Peroxisome Biogenesis Disorder, Complementation Group 1 (C566568)
..Peroxisome Biogenesis Disorder, Complementation Group 11 (C566634)
..Peroxisome Biogenesis Disorder, Complementation Group 12 (C566405)
..Peroxisome Biogenesis Disorder, Complementation Group 13 (C566625)
..Peroxisome Biogenesis Disorder, Complementation Group 14 (C563964)
..Peroxisome Biogenesis Disorder, Complementation Group 3 (C566633)
..Peroxisome Biogenesis Disorder, Complementation Group 4 (C563301)
..Peroxisome Biogenesis Disorder, Complementation Group 7 (C566422)
..Peroxisome Biogenesis Disorder, Complementation Group 9 (C566387)
..Peroxisome Biogenesis Disorder, Complementation Group D (C566388)
..Peroxisome Biogenesis Disorder, Complementation Group E (C566569)
..Peroxisome Biogenesis Disorder, Complementation Group G (C566406)
..Peroxisome Biogenesis Disorder, Complementation Group H (C566626)
..Peroxisome Biogenesis Disorder, Complementation Group J (C563965)
..Peroxisome Biogenesis Disorder, Complementation Group K (C566624)
..Peroxisome Biogenesis Disorder, Complementation Group R (C566635)
..Peroxisome biogenesis disorders (C536664)
..Refsum Disease (D012035) 4
..Refsum Disease, Infantile (D052919)
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9738

Name:

PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)

Definition:

Alternative IDs:

ParentIDs:

MESH:D018901

TreeNumbers:

C16.320.565.663/614883 |C18.452.648.663/614883

Synonyms:

CG13, INCLUDED |CGH, INCLUDED |PBD11A |PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED |PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP H, INCLUDED

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 614883
MeSH: 614883
OMIM: 614883;
MSeqDR :
Genes: IMPDH1; PEX13;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000463	Anteverted nares
3	HP:0002104	Apnea
4	HP:0003429	CNS hypomyelination
5	HP:0001410	Decreased liver function
6	HP:0005280	Depressed nasal bridge
7	HP:0002910	Elevated hepatic transaminases
8	HP:0001508	Failure to thrive
9	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
10	HP:0001263	Global developmental delay NAMDC: Mental retardation
11	HP:0000348	High forehead
12	HP:0008947	Infantile muscular hypotonia
13	HP:0100729	Large face
14	HP:0000239	Large fontanelles
15	HP:0001339	Lissencephaly
16	HP:0005562	Multiple renal cysts
17	HP:0002126	Polymicrogyria
18	HP:0000107	Renal cyst
19	HP:0001250	Seizures NAMDC: Seizures
20	HP:0006829	Severe muscular hypotonia
21	HP:0000325	Triangular face
22	HP:0000260	Wide anterior fontanel

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_144709.4(PUS10):c.-16+260C>T	5194	PEX13	Uncertain significance	886056195	RCV000353832;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244883	61244883	NC_000002.11:g.61244883G>A	ClinGen:CA10615621	C0043459 214100 Zellweger syndrome;
NM_144709.4(PUS10):c.-16+255C>T	5194	PEX13	Conflicting interpretations of pathogenicity	200847026	RCV000730222\|RCV001140448;	N	MedGen:CN169374\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244888	61244888	NC_000002.11:g.61244888G>A	-
NM_144709.4(PUS10):c.-16+254C>G	5194	PEX13	Likely benign	147461642	RCV000173283\|RCV000261713\|RCV001657942;	N	MedGen:CN169374\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:C3661900	2	61244889	61244889	2:g.61244889G>C	ClinGen:CA200426	CN169374 not specified;
NM_002618.4(PEX13):c.1A>G (p.Met1Val)	5194	PEX13	Uncertain significance	1201215154	RCV001904838;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244895	61244895	61244895	-
NC_000002.11:g.(?_61244895)_(61275905_?)dup	5194	PEX13	Uncertain significance	-1	RCV001932629;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244895	61275905	-1	-
NM_002618.4(PEX13):c.6G>T (p.Ala2=)	5194	PEX13	Likely benign	-1	RCV003027099;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244900	61244900		-
NM_002618.4(PEX13):c.8C>G (p.Ser3Cys)	5194	PEX13	Uncertain significance	950397917	RCV001910241;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244902	61244902	61244902	-
NM_002618.4(PEX13):c.9C>T (p.Ser3=)	5194	PEX13	Conflicting interpretations of pathogenicity	745465894	RCV000732567\|RCV002061011;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244903	61244903	NC_000002.11:g.61244903C>T	-
NM_002618.4(PEX13):c.9C>G (p.Ser3=)	5194	PEX13	Likely benign	745465894	RCV002206005;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244903	61244903	61244903	-
NM_002618.4(PEX13):c.11A>C (p.Gln4Pro)	5194	PEX13	Uncertain significance	1171979724	RCV002035698\|RCV003170510;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61244905	61244905	61244905	-
NM_002618.4(PEX13):c.12G>A (p.Gln4=)	5194	PEX13	Likely benign	-1	RCV003029998;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244906	61244906		-
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu)	5194	PEX13	Uncertain significance	898062680	RCV001069467\|RCV002554578;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61244908	61244908	2:g.61244908C>T	-
NM_002618.4(PEX13):c.18A>G (p.Pro6=)	5194	PEX13	Conflicting interpretations of pathogenicity	769300208	RCV000730443\|RCV001482425;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244912	61244912	NC_000002.11:g.61244912A>G	-
NM_002618.4(PEX13):c.23C>T (p.Pro8Leu)	5194	PEX13	Uncertain significance	-1	RCV002635347;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244917	61244917	NC_000002.11:g.61244917C>T	-
NM_002618.4(PEX13):c.24C>A (p.Pro8=)	5194	PEX13	Conflicting interpretations of pathogenicity	774943691	RCV000594390\|RCV001406941;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244918	61244918	2:g.61244918C>A	ClinGen:CA1673187	CN169374 not specified;
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg)	5194	PEX13	Uncertain significance	764069625	RCV000295750\|RCV001140449\|RCV003362747;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61244920	61244920	2:g.61244920C>G	ClinGen:CA10606564	CN169374 not specified;
NM_002618.4(PEX13):c.26C>A (p.Pro9His)	5194	PEX13	Uncertain significance	-1	RCV003068287;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244920	61244920	NC_000002.11:g.61244920C>A	-
NM_002618.4(PEX13):c.29A>G (p.Lys10Arg)	5194	PEX13	Uncertain significance	1230492316	RCV001926060;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244923	61244923	61244923	-
NM_002618.4(PEX13):c.29A>T (p.Lys10Ile)	5194	PEX13	Uncertain significance	-1	RCV002671764;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244923	61244923	NC_000002.11:g.61244923A>T	-
NM_002618.4(PEX13):c.31C>G (p.Pro11Ala)	5194	PEX13	Uncertain significance	1680108011	RCV001894786;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244925	61244925	61244925	-
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu)	5194	PEX13	Uncertain significance	564528921	RCV001055417\|RCV001812877\|RCV002523137;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	2	61244926	61244926	NC_000002.11:g.61244926C>T	ClinGen:CA1673190	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.32C>A (p.Pro11His)	5194	PEX13	Uncertain significance	564528921	RCV000728132\|RCV001140450;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244926	61244926	NC_000002.11:g.61244926C>A	-
NM_002618.4(PEX13):c.32C>G (p.Pro11Arg)	5194	PEX13	Uncertain significance	564528921	RCV001958345;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244926	61244926	61244926	-
NM_002618.4(PEX13):c.33C>G (p.Pro11=)	5194	PEX13	Likely benign	1680108410	RCV002104558;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244927	61244927	61244927	-
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys)	5194	PEX13	Uncertain significance	1311634962	RCV001233844;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244937	61244937	2:g.61244937C>T	-
NM_002618.4(PEX13):c.44G>A (p.Arg15His)	5194	PEX13	Uncertain significance	576438646	RCV002028841;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244938	61244938	61244938	-
NM_002618.4(PEX13):c.45C>G (p.Arg15=)	5194	PEX13	Likely benign	1405144717	RCV001483043;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244939	61244939	61244939	-
NM_002618.4(PEX13):c.45C>T (p.Arg15=)	5194	PEX13	Likely benign	1405144717	RCV002090170;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244939	61244939	61244939	-
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter)	5194	PEX13	Pathogenic	1178588746	RCV001907969;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244940	61244940	61244940	-
NM_002618.4(PEX13):c.53C>T (p.Pro18Leu)	5194	PEX13	Uncertain significance	2104787557	RCV002033107;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244947	61244947	61244947	-
NM_002618.4(PEX13):c.54G>A (p.Pro18=)	5194	PEX13	Conflicting interpretations of pathogenicity	1002699754	RCV000731302\|RCV001855655;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244948	61244948	NC_000002.11:g.61244948G>A	-
NM_002618.4(PEX13):c.54G>T (p.Pro18=)	5194	PEX13	Likely benign	1002699754	RCV002209211;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244948	61244948	61244948	-
NM_002618.4(PEX13):c.59C>G (p.Ala20Gly)	5194	PEX13	Uncertain significance	2104787633	RCV001961471;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244953	61244953	61244953	-
NM_002618.4(PEX13):c.60C>T (p.Ala20=)	5194	PEX13	Likely benign	-1	RCV002870946;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244954	61244954		-
NM_002618.4(PEX13):c.62G>A (p.Gly21Glu)	5194	PEX13	Uncertain significance	1249025009	RCV001899220;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244956	61244956	61244956	-
NM_002618.4(PEX13):c.64C>T (p.Pro22Ser)	5194	PEX13	Uncertain significance	1466677796	RCV001863300;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244958	61244958	61244958	-
NM_002618.4(PEX13):c.66G>A (p.Pro22=)	5194	PEX13	Likely benign	1264694420	RCV002021863;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244960	61244960	61244960	-
NM_002618.4(PEX13):c.67G>C (p.Gly23Arg)	5194	PEX13	Uncertain significance	-1	RCV003022127;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244961	61244961	NC_000002.11:g.61244961G>C	-
NM_002618.4(PEX13):c.68G>A (p.Gly23Glu)	5194	PEX13	Uncertain significance	-1	RCV002584538;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244962	61244962	NC_000002.11:g.61244962G>A	-
NM_002618.4(PEX13):c.70C>T (p.Pro24Ser)	5194	PEX13	Uncertain significance	-1	RCV003008980;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244964	61244964	NC_000002.11:g.61244964C>T	-
NM_002618.4(PEX13):c.84C>T (p.Pro28=)	5194	PEX13	Likely benign	-1	RCV002881111;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244978	61244978		-
NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)	5194	PEX13	Uncertain significance	-1	RCV002599113;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244979	61244979	NC_000002.11:g.61244979A>G	-
NM_002618.4(PEX13):c.86C>G (p.Thr29Ser)	5194	PEX13	Uncertain significance	543856265	RCV001344157;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244980	61244980	61244980	-
NM_002618.4(PEX13):c.86C>A (p.Thr29Asn)	5194	PEX13	Uncertain significance	543856265	RCV001870070;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244980	61244980	61244980	-
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser)	5194	PEX13	Uncertain significance	771610641	RCV000592064\|RCV000765692\|RCV001059125\|RCV002531070;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61244983	61244983	2:g.61244983T>C	ClinGen:CA1673194	CN169374 not specified;
NM_144709.4(PUS10):c.-16+151A>G	5194	PEX13	Uncertain significance	1291662088	RCV002020707;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244992	61244992	61244992	-
NM_144709.4(PUS10):c.-16+150C>A	5194	PEX13	Likely benign	-1	RCV003120074;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244993	61244993	NC_000002.11:g.61244993G>T	-
NM_144709.4(PUS10):c.-16+147C>T	5194	PEX13	Likely benign	1387361776	RCV002190376;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61244996	61244996	61244996	-
NM_144709.4(PUS10):c.-16+142G>A	5194	PEX13	Uncertain significance	-1	RCV002736705;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61245001	61245001	NC_000002.11:g.61245001C>T	-
NM_144709.4(PUS10):c.-16+141A>C	5194	PEX13	Likely benign	-1	RCV003015188;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61245002	61245002	NC_000002.11:g.61245002T>G	-
NM_144709.4(PUS10):c.-16+137C>G	5194	PEX13	Likely benign	1303497941	RCV002078273;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61245006	61245006	61245006	-
NC_000002.11:g.(?_61258534)_(62063264_?)dup	5194	PEX13	Uncertain significance	-1	RCV001900545;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258534	62063264	-1	-
NC_000002.11:g.(?_61258534)_(61275905_?)del	5194	PEX13	Uncertain significance	-1	RCV003122588;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258534	61275905		-
NM_002618.4(PEX13):c.93-18A>C	5194	PEX13	Likely benign	773183074	RCV002136566;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258536	61258536	61258536	-
NM_002618.4(PEX13):c.93-3dup	5194	PEX13	Likely benign	2104803114	RCV002221048;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258547	61258548	61258547	-
NM_002618.4(PEX13):c.93-1G>A	5194	PEX13	Likely pathogenic	-1	RCV003024285;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258553	61258553	NC_000002.11:g.61258553G>A	-
NM_002618.4(PEX13):c.94T>C (p.Ser32Pro)	5194	PEX13	Uncertain significance	759610758	RCV001982421;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258555	61258555	61258555	-
NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr)	5194	PEX13	Uncertain significance	-1	RCV002627072;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258556	61258556	NC_000002.11:g.61258556C>A	-
NM_002618.4(PEX13):c.96T>A (p.Ser32=)	5194	PEX13	Likely benign	-1	RCV002725837;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258557	61258557		-
NM_002618.4(PEX13):c.98C>A (p.Ala33Asp)	5194	PEX13	Uncertain significance	1458042764	RCV001234844;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258559	61258559	2:g.61258559C>A	-
NM_002618.4(PEX13):c.103T>A (p.Leu35Met)	5194	PEX13	Uncertain significance	752671523	RCV001352393;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258564	61258564	61258564	-
NM_002618.4(PEX13):c.107_120del (p.Gly36fs)	5194	PEX13	Likely pathogenic	2104803129	RCV001782601\|RCV002293256;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258567	61258580	61258566	OMIM:601789.0004
NM_002618.4(PEX13):c.113C>A (p.Thr38Asn)	5194	PEX13	Uncertain significance	763566050	RCV001915460\|RCV002554312;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61258574	61258574	61258574	-
NM_002618.4(PEX13):c.113C>T (p.Thr38Ile)	5194	PEX13	Uncertain significance	-1	RCV002971528;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258574	61258574	NC_000002.11:g.61258574C>T	-
NM_002618.4(PEX13):c.115T>G (p.Leu39Val)	5194	PEX13	Uncertain significance	-1	RCV003028995;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258576	61258576	NC_000002.11:g.61258576T>G	-
NM_002618.4(PEX13):c.116T>C (p.Leu39Ser)	5194	PEX13	Uncertain significance	1351769986	RCV001975682;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258577	61258577	61258577	-
NM_002618.4(PEX13):c.119T>C (p.Met40Thr)	5194	PEX13	Uncertain significance	-1	RCV002796023;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258580	61258580	NC_000002.11:g.61258580T>C	-
NM_002618.4(PEX13):c.121A>G (p.Thr41Ala)	5194	PEX13	Uncertain significance	757604504	RCV001877926;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258582	61258582	61258582	-
NM_002618.4(PEX13):c.122C>T (p.Thr41Ile)	5194	PEX13	Uncertain significance	1282669816	RCV001989219;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258583	61258583	61258583	-
NM_002618.4(PEX13):c.123A>G (p.Thr41=)	5194	PEX13	Likely benign	-1	RCV002846257;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258584	61258584		-
NM_002618.4(PEX13):c.126A>G (p.Arg42=)	5194	PEX13	Likely benign	781477994	RCV001406946;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258587	61258587	61258587	-
NM_002618.4(PEX13):c.130G>A (p.Gly44Arg)	5194	PEX13	Uncertain significance	1281056404	RCV001367959;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258591	61258591	61258591	-
NM_002618.4(PEX13):c.135A>T (p.Gln45His)	5194	PEX13	Uncertain significance	-1	RCV002828621;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258596	61258596	NC_000002.11:g.61258596A>T	-
NM_002618.4(PEX13):c.138A>G (p.Pro46=)	5194	PEX13	Likely benign	-1	RCV002838981;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258599	61258599		-
NM_002618.4(PEX13):c.139G>A (p.Ala47Thr)	5194	PEX13	Uncertain significance	1292631867	RCV001977523;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258600	61258600	61258600	-
NM_002618.4(PEX13):c.141A>G (p.Ala47=)	5194	PEX13	Benign/Likely benign	79842991	RCV000349805\|RCV001513324;	N	MedGen:CN169374\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258602	61258602	2:g.61258602A>G	ClinGen:CA1673246	CN169374 not specified;
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)	5194	PEX13	Conflicting interpretations of pathogenicity	60203778	RCV000318147\|RCV001057894;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258603	61258603	2:g.61258603C>T	ClinGen:CA1673247	CN169374 not specified;
NM_002618.4(PEX13):c.148del (p.Arg50fs)	5194	PEX13	Pathogenic	-1	RCV002801561;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258609	61258609	NC_000002.11:g.61258609del	-
NM_002618.4(PEX13):c.151G>A (p.Val51Met)	5194	PEX13	Uncertain significance	2104803197	RCV001966222;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258612	61258612	61258612	-
NM_002618.4(PEX13):c.154C>A (p.Pro52Thr)	5194	PEX13	Uncertain significance	1210739309	RCV001937081;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258615	61258615	61258615	-
NM_002618.4(PEX13):c.156C>T (p.Pro52=)	5194	PEX13	Likely benign	562629125	RCV002086832;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258617	61258617	61258617	-
NM_002618.4(PEX13):c.159_160del (p.Pro54fs)	5194	PEX13	Pathogenic	2104803205	RCV002002402;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258619	61258620	61258618	-
NM_002618.4(PEX13):c.163A>G (p.Ile55Val)	5194	PEX13	Uncertain significance	-1	RCV002771408;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258624	61258624	NC_000002.11:g.61258624A>G	-
NM_002618.4(PEX13):c.166C>T (p.Leu56Phe)	5194	PEX13	Uncertain significance	1292485549	RCV001880538;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258627	61258627	61258627	-
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly)	5194	PEX13	Uncertain significance	886056196	RCV000385503;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258654	61258654	NC_000002.11:g.61258654A>G	ClinGen:CA10615893	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg)	5194	PEX13	Uncertain significance	752073595	RCV000592131\|RCV001142305\|RCV003302923;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61258660	61258660	2:g.61258660A>C	ClinGen:CA1673255	CN169374 not specified;
NM_002618.4(PEX13):c.201dup (p.Val68fs)	5194	PEX13	Pathogenic	1288976071	RCV001931231;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258661	61258662	61258661	-
NM_002618.4(PEX13):c.202G>A (p.Val68Met)	5194	PEX13	Uncertain significance	1553423403	RCV000595325\|RCV001854026;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258663	61258663	2:g.61258663G>A	ClinGen:CA346941535	CN169374 not specified;
NM_002618.4(PEX13):c.204G>T (p.Val68=)	5194	PEX13	Likely benign	-1	RCV002963082;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258665	61258665		-
NM_002618.4(PEX13):c.205A>T (p.Asn69Tyr)	5194	PEX13	Uncertain significance	1338444377	RCV001300269\|RCV002541919;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61258666	61258666	61258666	-
NM_002618.4(PEX13):c.206A>G (p.Asn69Ser)	5194	PEX13	Uncertain significance	-1	RCV003049812;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258667	61258667	NC_000002.11:g.61258667A>G	-
NM_002618.4(PEX13):c.209C>G (p.Thr70Ser)	5194	PEX13	Uncertain significance	2104803233	RCV001958406;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258670	61258670	61258670	-
NM_002618.4(PEX13):c.217C>G (p.Pro73Ala)	5194	PEX13	Uncertain significance	767895802	RCV001863252;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258678	61258678	61258678	-
NM_002618.4(PEX13):c.226A>G (p.Ser76Gly)	5194	PEX13	Conflicting interpretations of pathogenicity	148296743	RCV000732631\|RCV001080682;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258687	61258687	NC_000002.11:g.61258687A>G	-
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr)	5194	PEX13	Benign/Likely benign	150161574	RCV000175727\|RCV000879718;	N	MedGen:CN169374\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258690	61258690	2:g.61258690T>A	ClinGen:CA241469	CN169374 not specified;
NM_002618.4(PEX13):c.239C>T (p.Ser80Phe)	5194	PEX13	Uncertain significance	-1	RCV002295722;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258700	61258700	61258700	-
NM_002618.4(PEX13):c.241G>A (p.Gly81Arg)	5194	PEX13	Uncertain significance	892846278	RCV002038030;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258702	61258702	61258702	-
NM_002618.4(PEX13):c.254A>G (p.Tyr85Cys)	5194	PEX13	Uncertain significance	-1	RCV003112878;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258715	61258715	NC_000002.11:g.61258715A>G	-
NM_002618.4(PEX13):c.257G>A (p.Gly86Glu)	5194	PEX13	Uncertain significance	752312334	RCV002261683\|RCV003095890;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258718	61258718	61258718	-
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser)	5194	PEX13	Uncertain significance	367843599	RCV000274515;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258721	61258721	NC_000002.11:g.61258721A>G	ClinGen:CA1673261	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.268T>G (p.Tyr90Asp)	5194	PEX13	Uncertain significance	-1	RCV003019922;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258729	61258729	NC_000002.11:g.61258729T>G	-
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys)	5194	PEX13	Uncertain significance	200928725	RCV000332182;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258730	61258730	NC_000002.11:g.61258730A>G	ClinGen:CA1673265	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.270T>C (p.Tyr90=)	5194	PEX13	Likely benign	946922546	RCV002173053;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258731	61258731	61258731	-
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp)	5194	PEX13	Uncertain significance	745620818	RCV000597041\|RCV000822066;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258736	61258736	NC_000002.11:g.61258736G>A	ClinGen:CA1673266	CN169374 not specified;
NM_002618.4(PEX13):c.276C>T (p.Gly92=)	5194	PEX13	Likely benign	770117657	RCV002200374;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258737	61258737	61258737	-
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys)	5194	PEX13	Uncertain significance	200211896	RCV001207357\|RCV002480677\|RCV002561659;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44\|MeSH:D030342,MedGen:C0950123	2	61258739	61258739	2:g.61258739A>G	-
NM_002618.4(PEX13):c.283C>T (p.Pro95Ser)	5194	PEX13	Uncertain significance	1680451211	RCV001981512;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258744	61258744	61258744	-
NM_002618.4(PEX13):c.285T>G (p.Pro95=)	5194	PEX13	Likely benign	749465384	RCV002083157;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258746	61258746	61258746	-
NM_002618.4(PEX13):c.289A>G (p.Ser97Gly)	5194	PEX13	Uncertain significance	-1	RCV002654938;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258750	61258750	NC_000002.11:g.61258750A>G	-
NM_002618.4(PEX13):c.294T>C (p.Tyr98=)	5194	PEX13	Likely benign	762328486	RCV001486150;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258755	61258755	61258755	-
NM_002618.4(PEX13):c.296G>T (p.Gly99Val)	5194	PEX13	Uncertain significance	-1	RCV002640488;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258757	61258757	NC_000002.11:g.61258757G>T	-
NM_002618.4(PEX13):c.300T>C (p.Tyr100=)	5194	PEX13	Likely benign	2104803312	RCV002126456;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258761	61258761	61258761	-
NM_002618.4(PEX13):c.302A>G (p.Asn101Ser)	5194	PEX13	Uncertain significance	1680451583	RCV001364356;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258763	61258763	61258763	-
NM_002618.4(PEX13):c.307C>G (p.Leu103Val)	5194	PEX13	Uncertain significance	767987790	RCV001896352;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258768	61258768	61258768	-
NM_002618.4(PEX13):c.309G>T (p.Leu103=)	5194	PEX13	Likely benign	-1	RCV003013502;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258770	61258770		-
NM_002618.4(PEX13):c.311G>A (p.Gly104Asp)	5194	PEX13	Uncertain significance	773664586	RCV001362211;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258772	61258772	61258772	-
NM_002618.4(PEX13):c.314A>G (p.Tyr105Cys)	5194	PEX13	Uncertain significance	-1	RCV002811925;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258775	61258775	NC_000002.11:g.61258775A>G	-
NM_002618.4(PEX13):c.318C>T (p.Asn106=)	5194	PEX13	Likely benign	2104803339	RCV002213440;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258779	61258779	61258779	-
NM_002618.4(PEX13):c.319C>T (p.Arg107Cys)	5194	PEX13	Uncertain significance	776824458	RCV002041661;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258780	61258780	61258780	-
NM_002618.4(PEX13):c.320G>A (p.Arg107His)	5194	PEX13	Uncertain significance	766710343	RCV002038653;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258781	61258781	61258781	-
NM_002618.4(PEX13):c.321C>A (p.Arg107=)	5194	PEX13	Likely benign	1245330810	RCV002165643;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258782	61258782	61258782	-
NM_002618.4(PEX13):c.322C>T (p.Leu108Phe)	5194	PEX13	Uncertain significance	138030119	RCV002007638;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258783	61258783	61258783	-
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)	5194	PEX13	Conflicting interpretations of pathogenicity	143972531	RCV000597196\|RCV001078538;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258786	61258786	2:g.61258786C>T	ClinGen:CA1673278	CN169374 not specified;
NM_002618.4(PEX13):c.326G>A (p.Arg109His)	5194	PEX13	Uncertain significance	372193938	RCV002040993;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258787	61258787	61258787	-
NM_002618.4(PEX13):c.326G>C (p.Arg109Pro)	5194	PEX13	Uncertain significance	372193938	RCV001980951;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258787	61258787	61258787	-
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)	5194	PEX13	Conflicting interpretations of pathogenicity	202077756	RCV000389018;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258799	61258799	NC_000002.11:g.61258799T>C	ClinGen:CA1673282	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.340C>G (p.Pro114Ala)	5194	PEX13	Uncertain significance	-1	RCV003078278;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258801	61258801	NC_000002.11:g.61258801C>G	-
NM_002618.4(PEX13):c.345C>T (p.Pro115=)	5194	PEX13	Likely benign	2104803376	RCV002173462;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258806	61258806	61258806	-
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr)	5194	PEX13	Uncertain significance	749542687	RCV000734189\|RCV001247678\|RCV002536513;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61258814	61258814	NC_000002.11:g.61258814T>A	-
NM_002618.4(PEX13):c.354T>C (p.Phe118=)	5194	PEX13	Conflicting interpretations of pathogenicity	143378216	RCV000595614\|RCV001089344;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258815	61258815	2:g.61258815T>C	ClinGen:CA1673287	CN169374 not specified;
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)	5194	PEX13	Conflicting interpretations of pathogenicity	147707348	RCV000594107\|RCV000882202\|RCV001081489;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258816	61258816	NC_000002.11:g.61258816G>A	ClinGen:CA1673288	CN169374 not specified;
NM_002618.4(PEX13):c.366T>C (p.Ala122=)	5194	PEX13	Likely benign	2104803394	RCV002190102;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258827	61258827	61258827	-
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)	5194	PEX13	Pathogenic	2104803395	RCV001920585\|RCV002285029;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44	2	61258828	61258828	61258828	-
NM_002618.4(PEX13):c.374G>A (p.Ser125Asn)	5194	PEX13	Uncertain significance	748193136	RCV002026044;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258835	61258835	61258835	-
NM_002618.4(PEX13):c.378C>T (p.Ser126=)	5194	PEX13	Likely benign	939500739	RCV001479205;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258839	61258839	61258839	-
NM_002618.4(PEX13):c.379A>T (p.Arg127Trp)	5194	PEX13	Uncertain significance	1224323223	RCV001864292;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258840	61258840	61258840	-
NM_002618.4(PEX13):c.381G>A (p.Arg127=)	5194	PEX13	Likely benign	772627459	RCV002183467;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258842	61258842	61258842	-
NM_002618.4(PEX13):c.382G>C (p.Gly128Arg)	5194	PEX13	Uncertain significance	-1	RCV003065660;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258843	61258843	NC_000002.11:g.61258843G>C	-
NM_002618.4(PEX13):c.382G>T (p.Gly128Cys)	5194	PEX13	Uncertain significance	-1	RCV003016769;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258843	61258843	NC_000002.11:g.61258843G>T	-
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)	5194	PEX13	Conflicting interpretations of pathogenicity	554152771	RCV000625910\|RCV001815420;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:C3661900	2	61258844	61258844	2:g.61258844G>T	ClinGen:CA1673291	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.403A>T (p.Ser135Cys)	5194	PEX13	Uncertain significance	1357787046	RCV002001240;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258864	61258864	61258864	-
NM_002618.4(PEX13):c.408T>A (p.Ile136=)	5194	PEX13	Conflicting interpretations of pathogenicity	145776973	RCV000729741\|RCV001467803;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258869	61258869	NC_000002.11:g.61258869T>A	-
NM_002618.4(PEX13):c.409G>A (p.Val137Met)	5194	PEX13	Uncertain significance	768438349	RCV000733081\|RCV001868983\|RCV002536491;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61258870	61258870	NC_000002.11:g.61258870G>A	-
NM_002618.4(PEX13):c.417A>G (p.Ala139=)	5194	PEX13	Conflicting interpretations of pathogenicity	886056197	RCV000344942;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258878	61258878	NC_000002.11:g.61258878A>G	ClinGen:CA10614205	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.419T>C (p.Phe140Ser)	5194	PEX13	Uncertain significance	-1	RCV003047601;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258880	61258880	NC_000002.11:g.61258880T>C	-
NM_002618.4(PEX13):c.431G>T (p.Ser144Ile)	5194	PEX13	Uncertain significance	762747711	RCV001346524;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258892	61258892	61258892	-
NM_002618.4(PEX13):c.433A>G (p.Met145Val)	5194	PEX13	Uncertain significance	1345860074	RCV002019230;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258894	61258894	61258894	-
NM_002618.4(PEX13):c.435G>A (p.Met145Ile)	5194	PEX13	Uncertain significance	1345774394	RCV001864162;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258896	61258896	61258896	-
NM_002618.4(PEX13):c.448A>G (p.Thr150Ala)	5194	PEX13	Uncertain significance	-1	RCV002938438;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258909	61258909	NC_000002.11:g.61258909A>G	-
NM_002618.4(PEX13):c.450C>T (p.Thr150=)	5194	PEX13	Likely benign	1228236816	RCV001471789;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258911	61258911	61258911	-
NM_002618.4(PEX13):c.458C>T (p.Ala153Val)	5194	PEX13	Uncertain significance	2104803452	RCV001869876;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258919	61258919	61258919	-
NM_002618.4(PEX13):c.460G>A (p.Val154Ile)	5194	PEX13	Uncertain significance	2104803454	RCV001874181;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258921	61258921	61258921	-
NM_002618.4(PEX13):c.463T>C (p.Tyr155His)	5194	PEX13	Uncertain significance	2104803455	RCV001998873;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258924	61258924	61258924	-
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys)	5194	PEX13	Uncertain significance	1298522041	RCV000705054;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258925	61258925	NC_000002.11:g.61258925A>G	-	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)	5194	PEX13	Pathogenic/Likely pathogenic	369851185	RCV000707004\|RCV001784347;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:CN517202	2	61258926	61258926	NC_000002.11:g.61258926T>G	-	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.475A>G (p.Arg159Gly)	5194	PEX13	Uncertain significance	2104803471	RCV001917538;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258936	61258936	61258936	-
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro)	5194	PEX13	Uncertain significance	1559035602	RCV000705053;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258939	61258939	NC_000002.11:g.61258939G>C	-	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.484T>C (p.Leu162=)	5194	PEX13	Likely benign	-1	RCV002805822;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258945	61258945		-
NM_002618.4(PEX13):c.487G>C (p.Asp163His)	5194	PEX13	Uncertain significance	969985837	RCV002047004;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258948	61258948	61258948	-
NM_002618.4(PEX13):c.488A>T (p.Asp163Val)	5194	PEX13	Uncertain significance	2104803479	RCV002006715;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258949	61258949	61258949	-
NM_002618.4(PEX13):c.493G>A (p.Ala165Thr)	5194	PEX13	Uncertain significance	1481858907	RCV001964439;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258954	61258954	61258954	-
NM_002618.4(PEX13):c.499del (p.His167fs)	5194	PEX13	Pathogenic	2104803491	RCV001875686;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258960	61258960	61258959	-
NM_002618.4(PEX13):c.500A>G (p.His167Arg)	5194	PEX13	Uncertain significance	1336772620	RCV001890422;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258961	61258961	61258961	-
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)	5194	PEX13	Pathogenic	553968959	RCV000697441\|RCV001268567;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:C3661900	2	61258969	61258969	NC_000002.11:g.61258969C>T	-	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.508C>A (p.Arg170=)	5194	PEX13	Uncertain significance	553968959	RCV001238190;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258969	61258969	2:g.61258969C>A	-
NM_002618.4(PEX13):c.509G>A (p.Arg170Gln)	5194	PEX13	Uncertain significance	779100414	RCV001989398;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258970	61258970	61258970	-
NM_002618.4(PEX13):c.511T>C (p.Leu171=)	5194	PEX13	Likely benign	-1	RCV003026426;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258972	61258972		-
NM_002618.4(PEX13):c.520C>T (p.His174Tyr)	5194	PEX13	Uncertain significance	-1	RCV003075968\|RCV003086215;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61258981	61258981	NC_000002.11:g.61258981C>T	-
NM_002618.4(PEX13):c.529_531del (p.Lys177del)	5194	PEX13	Uncertain significance	1680456530	RCV001090116;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61258989	61258991	2:g.61258989_61258991del	-
NM_002618.4(PEX13):c.549A>G (p.Ala183=)	5194	PEX13	Likely benign	-1	RCV002857113;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259010	61259010		-
NM_002618.4(PEX13):c.556A>T (p.Arg186Trp)	5194	PEX13	Uncertain significance	2104803544	RCV002048015;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259017	61259017	61259017	-
NM_002618.4(PEX13):c.561T>C (p.Thr187=)	5194	PEX13	Likely benign	1442600682	RCV002189012;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259022	61259022	61259022	-
NM_002618.4(PEX13):c.562A>G (p.Ile188Val)	5194	PEX13	Uncertain significance	1360784990	RCV002044969;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259023	61259023	61259023	-
NM_002618.4(PEX13):c.563T>C (p.Ile188Thr)	5194	PEX13	Uncertain significance	2104803547	RCV002013059;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259024	61259024	61259024	-
NM_002618.4(PEX13):c.564A>C (p.Ile188=)	5194	PEX13	Likely benign	-1	RCV002937514;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259025	61259025		-
NM_002618.4(PEX13):c.565C>T (p.Arg189Trp)	5194	PEX13	Uncertain significance	771451906	RCV001978618;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259026	61259026	61259026	-
NM_002618.4(PEX13):c.566G>A (p.Arg189Gln)	5194	PEX13	Uncertain significance	777179456	RCV001298135;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259027	61259027	61259027	-
NM_002618.4(PEX13):c.566G>T (p.Arg189Leu)	5194	PEX13	Uncertain significance	777179456	RCV001991944;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259027	61259027	61259027	-
NM_002618.4(PEX13):c.568T>C (p.Tyr190His)	5194	PEX13	Uncertain significance	2104803558	RCV001890608;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259029	61259029	61259029	-
NM_002618.4(PEX13):c.569A>G (p.Tyr190Cys)	5194	PEX13	Uncertain significance	763396088	RCV002039907;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259030	61259030	61259030	-
NM_002618.4(PEX13):c.579A>G (p.Arg193=)	5194	PEX13	Likely benign	2104803563	RCV002184160;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259040	61259040	61259040	-
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp)	5194	PEX13	Uncertain significance	774157693	RCV001230282;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259041	61259041	2:g.61259041C>T	-
NM_002618.4(PEX13):c.580C>A (p.Arg194=)	5194	PEX13	Likely benign	774157693	RCV002142586;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259041	61259041	61259041	-
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln)	5194	PEX13	Uncertain significance	761487103	RCV001142306;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259042	61259042	2:g.61259042G>A	-
NM_002618.4(PEX13):c.585A>G (p.Leu195=)	5194	PEX13	Likely benign	-1	RCV003020951;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259046	61259046		-
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter)	5194	PEX13	Pathogenic	1559035738	RCV000694806;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259047	61259047	2:g.61259047C>T	-	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp)	5194	PEX13	Conflicting interpretations of pathogenicity	903847229	RCV001295763\|RCV002538460\|RCV002486120;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44; MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259050	61259050	61259050	-
NM_002618.4(PEX13):c.590G>A (p.Arg197Gln)	5194	PEX13	Uncertain significance	-1	RCV002979010;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259051	61259051	NC_000002.11:g.61259051G>A	-
NM_002618.4(PEX13):c.591G>A (p.Arg197=)	5194	PEX13	Likely benign	2104803591	RCV002071538;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259052	61259052	61259052	-
NM_002618.4(PEX13):c.592A>T (p.Met198Leu)	5194	PEX13	Uncertain significance	760577554	RCV001877309;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259053	61259053	61259053	-
NM_002618.4(PEX13):c.594G>A (p.Met198Ile)	5194	PEX13	Uncertain significance	1388373241	RCV001978938;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259055	61259055	61259055	-
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile)	5194	PEX13	Uncertain significance	565873587	RCV001944479\|RCV002503425;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44	2	61259056	61259056	61259056	-
NM_002618.4(PEX13):c.599G>A (p.Gly200Asp)	5194	PEX13	Uncertain significance	753698277	RCV001890287;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259060	61259060	61259060	-
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys)	5194	PEX13	Uncertain significance	1336466520	RCV001210573;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259066	61259066	2:g.61259066G>A	-
NM_002618.4(PEX13):c.610G>A (p.Gly204Ser)	5194	PEX13	Uncertain significance	2104803612	RCV001995871;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259071	61259071	61259071	-
NM_002618.4(PEX13):c.611G>A (p.Gly204Asp)	5194	PEX13	Uncertain significance	752948360	RCV000729710\|RCV001341843;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259072	61259072	NC_000002.11:g.61259072G>A	-
NM_002618.4(PEX13):c.611G>C (p.Gly204Ala)	5194	PEX13	Uncertain significance	-1	RCV002863709;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259072	61259072	NC_000002.11:g.61259072G>C	-
NM_002618.4(PEX13):c.612C>T (p.Gly204=)	5194	PEX13	Likely benign	2104803616	RCV002177244;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259073	61259073	61259073	-
NM_002618.4(PEX13):c.618G>C (p.Glu206Asp)	5194	PEX13	Uncertain significance	1680458661	RCV002045397;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259079	61259079	61259079	-
NM_002618.4(PEX13):c.620A>C (p.Asn207Thr)	5194	PEX13	Uncertain significance	1316575619	RCV001322207\|RCV002546090;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61259081	61259081	61259081	-
NM_002618.4(PEX13):c.624A>G (p.Glu208=)	5194	PEX13	Likely benign	2104803624	RCV002194361;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259085	61259085	61259085	-
NM_002618.4(PEX13):c.625G>T (p.Asp209Tyr)	5194	PEX13	Uncertain significance	-1	RCV002856237;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259086	61259086	NC_000002.11:g.61259086G>T	-
NM_002618.4(PEX13):c.629T>C (p.Leu210Pro)	5194	PEX13	Uncertain significance	-1	RCV003019233;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259090	61259090	NC_000002.11:g.61259090T>C	-
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)	5194	PEX13	Pathogenic	-1	RCV002898766;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259094	61259094	NC_000002.11:g.61259094G>A	-
NM_002618.4(PEX13):c.640A>G (p.Ser214Gly)	5194	PEX13	Uncertain significance	2104803638	RCV002008049;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259101	61259101	61259101	-
NM_002618.4(PEX13):c.641G>C (p.Ser214Thr)	5194	PEX13	Uncertain significance	1207829224	RCV002001144;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259102	61259102	61259102	-
NM_002618.4(PEX13):c.647G>C (p.Gly216Ala)	5194	PEX13	Uncertain significance	-1	RCV003116163;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259108	61259108	NC_000002.11:g.61259108G>C	-
NM_002618.4(PEX13):c.659G>A (p.Cys220Tyr)	5194	PEX13	Uncertain significance	988856957	RCV001980791;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259120	61259120	61259120	-
NM_002618.4(PEX13):c.660C>T (p.Cys220=)	5194	PEX13	Likely benign	-1	RCV003036725;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259121	61259121		-
NM_002618.4(PEX13):c.661C>G (p.Leu221Val)	5194	PEX13	Uncertain significance	192034592	RCV001041897;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259122	61259122	2:g.61259122C>G	-
NM_002618.4(PEX13):c.662T>G (p.Leu221Arg)	5194	PEX13	Uncertain significance	1475093874	RCV002037069;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259123	61259123	61259123	-
NM_002618.4(PEX13):c.669T>C (p.Ala223=)	5194	PEX13	Likely benign	-1	RCV003047613;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259130	61259130		-
NM_002618.4(PEX13):c.672G>A (p.Glu224=)	5194	PEX13	Likely benign	-1	RCV002843666;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259133	61259133		-
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly)	5194	PEX13	Benign/Likely benign	116059308	RCV000251440\|RCV000442022\|RCV001083261;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259135	61259135	2:g.61259135A>G	ClinGen:CA1673330	CN517202 not provided;
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln)	5194	PEX13	Uncertain significance	775953595	RCV000593604\|RCV001204761\|RCV002483607\|RCV002531049;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44\|MeSH:D030342,MedGen:C0950123	2	61259138	61259138	2:g.61259138G>A	ClinGen:CA1673332	CN169374 not specified;
NM_002618.4(PEX13):c.684T>G (p.Ala228=)	5194	PEX13	Likely benign	2104803682	RCV002180546;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259145	61259145	61259145	-
NM_002618.4(PEX13):c.691G>A (p.Ala231Thr)	5194	PEX13	Uncertain significance	1471254251	RCV001885830;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259152	61259152	61259152	-
NM_002618.4(PEX13):c.696A>C (p.Lys232Asn)	5194	PEX13	Uncertain significance	1680460565	RCV002040007;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259157	61259157	61259157	-
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter)	5194	PEX13	Pathogenic	104893661	RCV000008142;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259163	61259163	2:g.61259163G>A	ClinGen:CA119009,OMIM:601789.0001	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.705A>G (p.Pro235=)	5194	PEX13	Likely benign	-1	RCV003023947;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259166	61259166		-
NM_002618.4(PEX13):c.706A>G (p.Ile236Val)	5194	PEX13	Uncertain significance	1292217685	RCV001889223;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259167	61259167	61259167	-
NM_002618.4(PEX13):c.712T>G (p.Leu238Val)	5194	PEX13	Uncertain significance	1680460970	RCV001344334;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259173	61259173	61259173	-
NM_002618.4(PEX13):c.716T>C (p.Phe239Ser)	5194	PEX13	Uncertain significance	-1	RCV002740767;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259177	61259177	NC_000002.11:g.61259177T>C	-
NM_002618.4(PEX13):c.719T>G (p.Phe240Cys)	5194	PEX13	Uncertain significance	-1	RCV002720685;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259180	61259180	NC_000002.11:g.61259180T>G	-
NM_002618.4(PEX13):c.723T>A (p.Ala241=)	5194	PEX13	Uncertain significance	1205501080	RCV001947546;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259184	61259184	61259184	-
NM_002618.4(PEX13):c.727A>G (p.Ile243Val)	5194	PEX13	Uncertain significance	-1	RCV003032379;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259188	61259188	NC_000002.11:g.61259188A>G	-
NM_002618.4(PEX13):c.745C>T (p.Leu249Phe)	5194	PEX13	Uncertain significance	2104803738	RCV001985923;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259206	61259206	61259206	-
NM_002618.4(PEX13):c.750T>C (p.Ile250=)	5194	PEX13	Likely benign	765039738	RCV002091401;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259211	61259211	61259211	-
NM_002618.4(PEX13):c.759_760del (p.Leu254fs)	5194	PEX13	Pathogenic	-1	RCV003038481;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259219	61259220	NC_000002.11:g.61259220_61259221del	-
NM_002618.4(PEX13):c.759A>G (p.Leu253=)	5194	PEX13	Likely benign	752467884	RCV002145304;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259220	61259220	61259220	-
NM_002618.4(PEX13):c.759A>T (p.Leu253=)	5194	PEX13	Likely benign	-1	RCV002843155;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259220	61259220		-
NM_002618.4(PEX13):c.762G>A (p.Leu254=)	5194	PEX13	Likely benign	1282121871	RCV002095017;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259223	61259223	61259223	-
NM_002618.4(PEX13):c.767C>T (p.Thr256Ile)	5194	PEX13	Uncertain significance	985608709	RCV002035835;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259228	61259228	61259228	-
NM_002618.4(PEX13):c.769C>T (p.His257Tyr)	5194	PEX13	Uncertain significance	-1	RCV002796213;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259230	61259230	NC_000002.11:g.61259230C>T	-
NM_002618.4(PEX13):c.774T>A (p.Ser258Arg)	5194	PEX13	Uncertain significance	-1	RCV002751349;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259235	61259235	NC_000002.11:g.61259235T>A	-
NM_002618.4(PEX13):c.777T>C (p.Asp259=)	5194	PEX13	Likely benign	781350418	RCV001997905\|RCV003434373;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:C3661900	2	61259238	61259238	61259238	-
NM_002618.4(PEX13):c.778G>C (p.Glu260Gln)	5194	PEX13	Uncertain significance	-1	RCV002810460;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259239	61259239	NC_000002.11:g.61259239G>C	-
NM_002618.4(PEX13):c.787G>C (p.Asp263His)	5194	PEX13	Uncertain significance	766753038	RCV002046733;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259248	61259248	61259248	-
NM_002618.4(PEX13):c.787+1G>A	5194	PEX13	Likely pathogenic	2104803776	RCV001377147;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259249	61259249	61259249	-
NM_002618.4(PEX13):c.787+10C>T	5194	PEX13	Likely benign	-1	RCV003045728;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259258	61259258	NC_000002.11:g.61259258C>T	-
NM_002618.4(PEX13):c.787+12G>A	5194	PEX13	Likely benign	371678615	RCV002035435;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259260	61259260	61259260	-
NM_002618.4(PEX13):c.787+12G>T	5194	PEX13	Likely benign	-1	RCV002714865;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61259260	61259260	NC_000002.11:g.61259260G>T	-
NC_000002.11:g.(?_61272841)_(61275905_?)del	5194	PEX13	Uncertain significance	-1	RCV003122589;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272841	61275905		-
NC_000002.11:g.(?_61272841)_(61275905_?)dup	5194	PEX13	Uncertain significance	-1	RCV003122590;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272841	61275905		-
NM_002618.4(PEX13):c.788-9G>C	5194	PEX13	Likely benign	-1	RCV002599498;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272852	61272852	NC_000002.11:g.61272852G>C	-
NM_002618.4(PEX13):c.788-8G>A	5194	PEX13	Likely benign	1680695333	RCV002143528;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272853	61272853	61272853	-
NM_002618.4(PEX13):c.788-5T>C	5194	PEX13	Likely benign	561624639	RCV002193283;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272856	61272856	61272856	-
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr)	5194	PEX13	Uncertain significance	145568490	RCV000177162\|RCV001053159;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272864	61272864	2:g.61272864G>C	ClinGen:CA243273	CN169374 not specified;
NM_002618.4(PEX13):c.802G>A (p.Ala268Thr)	5194	PEX13	Uncertain significance	762797895	RCV001323784;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272875	61272875	61272875	-
NM_002618.4(PEX13):c.805A>G (p.Ser269Gly)	5194	PEX13	Uncertain significance	-1	RCV002710945;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272878	61272878	NC_000002.11:g.61272878A>G	-
NM_002618.4(PEX13):c.806G>C (p.Ser269Thr)	5194	PEX13	Uncertain significance	2104812693	RCV002047421;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272879	61272879	61272879	-
NM_002618.4(PEX13):c.815A>G (p.Asp272Gly)	5194	PEX13	Uncertain significance	2104812700	RCV002013425;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272888	61272888	61272888	-
NM_002618.4(PEX13):c.829dup (p.Ala277fs)	5194	PEX13	Pathogenic	2104812709	RCV001936561;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272901	61272902	61272901	-
NM_002618.4(PEX13):c.831C>T (p.Ala277=)	5194	PEX13	Likely benign	751807871	RCV002083223;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272904	61272904	61272904	-
NM_002618.4(PEX13):c.838G>C (p.Glu280Gln)	5194	PEX13	Uncertain significance	-1	RCV002812096;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272911	61272911	NC_000002.11:g.61272911G>C	-
NM_002618.4(PEX13):c.845A>G (p.Asp282Gly)	5194	PEX13	Uncertain significance	1573560642	RCV001062460;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272918	61272918	2:g.61272918A>G	-
NM_002618.4(PEX13):c.846T>G (p.Asp282Glu)	5194	PEX13	Uncertain significance	-1	RCV002584973;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272919	61272919	NC_000002.11:g.61272919T>G	-
NM_002618.4(PEX13):c.847T>G (p.Phe283Val)	5194	PEX13	Uncertain significance	1680696228	RCV001051870;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272920	61272920	2:g.61272920T>G	-
NM_002618.4(PEX13):c.848T>C (p.Phe283Ser)	5194	PEX13	Uncertain significance	-1	RCV002299081;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272921	61272921	61272921	-
NM_002618.4(PEX13):c.853G>C (p.Ala285Pro)	5194	PEX13	Uncertain significance	2104812755	RCV001897129;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272926	61272926	61272926	-
NM_002618.4(PEX13):c.855C>T (p.Ala285=)	5194	PEX13	Likely benign	1438696242	RCV002177799;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272928	61272928	61272928	-
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)	5194	PEX13	Conflicting interpretations of pathogenicity	201699810	RCV000592320\|RCV001083100;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272929	61272929	NC_000002.11:g.61272929G>A	ClinGen:CA1673366	CN169374 not specified;
NM_002618.4(PEX13):c.867A>C (p.Glu289Asp)	5194	PEX13	Uncertain significance	-1	RCV002587371;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272940	61272940	NC_000002.11:g.61272940A>C	-
NM_002618.4(PEX13):c.871A>G (p.Ile291Val)	5194	PEX13	Uncertain significance	1444535263	RCV000594059\|RCV001306489;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272944	61272944	2:g.61272944A>G	ClinGen:CA346948707	CN169374 not specified;
NM_002618.4(PEX13):c.872T>C (p.Ile291Thr)	5194	PEX13	Uncertain significance	-1	RCV002301189;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272945	61272945	61272945	-
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)	5194	PEX13	Conflicting interpretations of pathogenicity	373118250	RCV000493263\|RCV001308586\|RCV002469099\|RCV002285016;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189\|MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44	2	61272953	61272953	2:g.61272953C>T	ClinGen:CA1673368	CN517202 not provided;
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln)	5194	PEX13	Uncertain significance	377426614	RCV001057758;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272954	61272954	2:g.61272954G>A	-
NM_002618.4(PEX13):c.892A>T (p.Met298Leu)	5194	PEX13	Uncertain significance	2104812788	RCV001945895;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272965	61272965	61272965	-
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)	5194	PEX13	Conflicting interpretations of pathogenicity	138545154	RCV000177163\|RCV000981678\|RCV001250088;	N	MedGen:CN169374\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912; MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44	2	61272966	61272966	2:g.61272966T>C	ClinGen:CA243275	CN169374 not specified;
NM_002618.4(PEX13):c.905C>G (p.Ala302Gly)	5194	PEX13	Uncertain significance	770549469	RCV001297998;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272978	61272978	61272978	-
NM_002618.4(PEX13):c.913+1G>T	5194	PEX13	Uncertain significance	-1	RCV002572525;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272987	61272987	NC_000002.11:g.61272987G>T	-
NM_002618.4(PEX13):c.913+3A>G	5194	PEX13	Uncertain significance	2104812816	RCV002013437;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272989	61272989	61272989	-
NM_002618.4(PEX13):c.913+5T>G	5194	PEX13	Uncertain significance	1380556679	RCV001876384;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272991	61272991	61272991	-
NM_002618.4(PEX13):c.913+8A>G	5194	PEX13	Likely benign	-1	RCV003082259;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61272994	61272994	NC_000002.11:g.61272994A>G	-
NM_002618.4(PEX13):c.913+15A>G	5194	PEX13	Likely benign	185304365	RCV001472804;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61273001	61273001	61273001	-
NM_002618.4(PEX13):c.913+19G>A	5194	PEX13	Benign	189410109	RCV001521578;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61273005	61273005	61273005	-
NM_002618.4(PEX13):c.914-16C>G	5194	PEX13	Likely benign	987622142	RCV002113921;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275591	61275591	61275591	-
NM_002618.4(PEX13):c.914-8dup	5194	PEX13	Benign	36090948	RCV002184263;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275591	61275592	61275591	-
NM_002618.4(PEX13):c.914-16_914-15insA	5194	PEX13	Likely benign	-1	RCV002790113;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275591	61275592	NC_000002.11:g.61275591_61275592insA	-
NM_002618.4(PEX13):c.914-12T>C	5194	PEX13	Likely benign	1015226405	RCV002173691;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275595	61275595	61275595	-
NM_002618.4(PEX13):c.914-8T>G	5194	PEX13	Likely benign	769302153	RCV002179154;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275599	61275599	61275599	-
NM_002618.4(PEX13):c.914-7C>T	5194	PEX13	Likely benign	-1	RCV002791749;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275600	61275600	NC_000002.11:g.61275600C>T	-
NM_002618.4(PEX13):c.914-6C>T	5194	PEX13	Likely benign	2104814454	RCV002192927;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275601	61275601	61275601	-
NM_002618.4(PEX13):c.914-5A>G	5194	PEX13	Likely benign	374011561	RCV002131541;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275602	61275602	61275602	-
NM_002618.4(PEX13):c.914-4T>A	5194	PEX13	Likely benign	774237731	RCV000921129;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275603	61275603	2:g.61275603T>A	-
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys)	5194	PEX13	Uncertain significance	376720470	RCV001137561;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275624	61275624	2:g.61275624C>T	-
NM_002618.4(PEX13):c.932G>A (p.Arg311His)	5194	PEX13	Uncertain significance	147344836	RCV001137562;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275625	61275625	2:g.61275625G>A	-
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter)	5194	PEX13	Uncertain significance	1428782325	RCV001237439;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275632	61275632	2:g.61275632G>A	-
NM_002618.4(PEX13):c.955G>C (p.Asp319His)	5194	PEX13	Uncertain significance	-1	RCV002991488;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275648	61275648	NC_000002.11:g.61275648G>C	-
NM_002618.4(PEX13):c.957T>C (p.Asp319=)	5194	PEX13	Likely benign	-1	RCV002820828;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275650	61275650		-
NM_002618.4(PEX13):c.961C>G (p.Gln321Glu)	5194	PEX13	Uncertain significance	765658938	RCV001307891;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275654	61275654	61275654	-
NM_002618.4(PEX13):c.965C>T (p.Thr322Ile)	5194	PEX13	Uncertain significance	920607306	RCV001880932;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275658	61275658	61275658	-
NM_002618.4(PEX13):c.967A>C (p.Thr323Pro)	5194	PEX13	Uncertain significance	753122073	RCV001900440;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275660	61275660	61275660	-
NM_002618.4(PEX13):c.968C>T (p.Thr323Ile)	5194	PEX13	Uncertain significance	1559047077	RCV001050365;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275661	61275661	2:g.61275661C>T	-
NM_002618.4(PEX13):c.969A>G (p.Thr323=)	5194	PEX13	Likely benign	-1	RCV002625788;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275662	61275662		-
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)	5194	PEX13	Conflicting interpretations of pathogenicity	61752115	RCV000008143\|RCV001851730\|RCV002269257;	N	MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885, Orphanet:44\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:CN517202	2	61275670	61275670	2:g.61275670T>C	ClinGen:CA119011,UniProtKB:Q92968#VAR_009306,OMIM:601789.0002	C3554001 614885 Peroxisome biogenesis disorder 11B;
NM_002618.4(PEX13):c.978A>G (p.Ile326Met)	5194	PEX13	Uncertain significance	1680745437	RCV001243930;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275671	61275671	2:g.61275671A>G	-
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu)	5194	PEX13	Uncertain significance	1680745521	RCV001137563;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275673	61275673	2:g.61275673C>T	-
NM_002618.4(PEX13):c.984G>A (p.Ala328=)	5194	PEX13	Likely benign	144086063	RCV001467799;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275677	61275677	61275677	-
NM_002618.4(PEX13):c.984G>T (p.Ala328=)	5194	PEX13	Likely benign	144086063	RCV002160414;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275677	61275677	61275677	-
NM_002618.4(PEX13):c.995A>G (p.Lys332Arg)	5194	PEX13	Uncertain significance	1234870387	RCV001987707\|RCV002562952;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61275688	61275688	61275688	-
NM_002618.4(PEX13):c.999T>C (p.Ile333=)	5194	PEX13	Likely benign	750110664	RCV002135787;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275692	61275692	61275692	-
NM_002618.4(PEX13):c.1000C>A (p.Leu334Ile)	5194	PEX13	Uncertain significance	149581494	RCV001878610;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275693	61275693	61275693	-
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser)	5194	PEX13	Uncertain significance	1680746099	RCV001247027;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275696	61275696	2:g.61275696G>A	-
NM_002618.4(PEX13):c.1003G>C (p.Gly335Arg)	5194	PEX13	Uncertain significance	1680746099	RCV001958328;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275696	61275696	61275696	-
NM_002618.4(PEX13):c.1011A>G (p.Arg337=)	5194	PEX13	Likely benign	779659827	RCV002130900;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275704	61275704	61275704	-
NM_002618.4(PEX13):c.1014A>G (p.Lys338=)	5194	PEX13	Conflicting interpretations of pathogenicity	748712609	RCV000595198\|RCV002065185;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275707	61275707	2:g.61275707A>G	ClinGen:CA1673414	CN169374 not specified;
NM_002618.4(PEX13):c.1019G>C (p.Arg340Thr)	5194	PEX13	Uncertain significance	755008779	RCV001926503;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275712	61275712	61275712	-
NM_002618.4(PEX13):c.1027G>A (p.Val343Met)	5194	PEX13	Uncertain significance	1680746493	RCV001338700;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275720	61275720	61275720	-
NM_002618.4(PEX13):c.1030G>A (p.Glu344Lys)	5194	PEX13	Uncertain significance	550755703	RCV001953182\|RCV002562841;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61275723	61275723	61275723	-
NM_002618.4(PEX13):c.1033T>A (p.Ser345Thr)	5194	PEX13	Uncertain significance	2104814598	RCV001881607;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275726	61275726	61275726	-
NM_002618.4(PEX13):c.1037G>A (p.Ser346Asn)	5194	PEX13	Uncertain significance	-1	RCV002958188;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275730	61275730	NC_000002.11:g.61275730G>A	-
NM_002618.4(PEX13):c.1040A>G (p.Lys347Arg)	5194	PEX13	Uncertain significance	2104814606	RCV002012070;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275733	61275733	61275733	-
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu)	5194	PEX13	Uncertain significance	1680746855	RCV001223609;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275735	61275735	2:g.61275735G>C	-
NM_002618.4(PEX13):c.1042G>A (p.Val348Ile)	5194	PEX13	Uncertain significance	-1	RCV003045289;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275735	61275735	NC_000002.11:g.61275735G>A	-
NM_002618.4(PEX13):c.1044T>C (p.Val348=)	5194	PEX13	Benign/Likely benign	151304822	RCV000276638\|RCV000884834;	N	MedGen:CN169374\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275737	61275737	2:g.61275737T>C	ClinGen:CA1673419	CN169374 not specified;
NM_002618.4(PEX13):c.1045T>C (p.Ser349Pro)	5194	PEX13	Uncertain significance	747286284	RCV001895400;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275738	61275738	61275738	-
NM_002618.4(PEX13):c.1046C>T (p.Ser349Phe)	5194	PEX13	Uncertain significance	1367527916	RCV001938207;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275739	61275739	61275739	-
NM_002618.4(PEX13):c.1049A>G (p.Lys350Arg)	5194	PEX13	Uncertain significance	1052212655	RCV001983674;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275742	61275742	61275742	-
NM_002618.4(PEX13):c.1052A>G (p.Gln351Arg)	5194	PEX13	Uncertain significance	-1	RCV003048166;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275745	61275745	NC_000002.11:g.61275745A>G	-
NM_002618.4(PEX13):c.1053G>C (p.Gln351His)	5194	PEX13	Uncertain significance	759524829	RCV001900694\|RCV002552152;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61275746	61275746	61275746	-
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg)	5194	PEX13	Uncertain significance	755510406	RCV001246445;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275751	61275751	2:g.61275751A>G	-
NM_002618.4(PEX13):c.1058A>T (p.Gln353Leu)	5194	PEX13	Uncertain significance	-1	RCV002816489;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275751	61275751	NC_000002.11:g.61275751A>T	-
NM_002618.4(PEX13):c.1059A>G (p.Gln353=)	5194	PEX13	Likely benign	892266553	RCV002133623;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275752	61275752	61275752	-
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser)	5194	PEX13	Uncertain significance	144300539	RCV001137564;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275763	61275763	2:g.61275763A>G	-
NM_002618.4(PEX13):c.1071C>G (p.Asn357Lys)	5194	PEX13	Uncertain significance	1371570388	RCV001304446;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275764	61275764	61275764	-
NM_002618.4(PEX13):c.1071C>T (p.Asn357=)	5194	PEX13	Likely benign	-1	RCV003049298;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275764	61275764		-
NM_002618.4(PEX13):c.1075A>G (p.Thr359Ala)	5194	PEX13	Uncertain significance	-1	RCV002575036\|RCV003164765;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61275768	61275768	NC_000002.11:g.61275768A>G	-
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val)	5194	PEX13	Benign/Likely benign	74350038	RCV000548411\|RCV001547133;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:C3661900	2	61275771	61275771	NC_000002.11:g.61275771C>G	ClinGen:CA1673426	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.1080A>G (p.Leu360=)	5194	PEX13	Likely benign	2104814664	RCV002107120;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275773	61275773	61275773	-
NM_002618.4(PEX13):c.1083T>G (p.Thr361=)	5194	PEX13	Likely benign	2104814667	RCV001401604;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275776	61275776	61275776	-
NM_002618.4(PEX13):c.1084A>G (p.Lys362Glu)	5194	PEX13	Uncertain significance	-1	RCV002631681;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275777	61275777	NC_000002.11:g.61275777A>G	-
NM_002618.4(PEX13):c.1088G>A (p.Gly363Glu)	5194	PEX13	Uncertain significance	-1	RCV002569495;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275781	61275781	NC_000002.11:g.61275781G>A	-
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser)	5194	PEX13	Benign	550344775	RCV001518966;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275783	61275783	2:g.61275783G>T	-
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr)	5194	PEX13	Uncertain significance	550344775	RCV001048539\|RCV002552644;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61275783	61275783	2:g.61275783G>A	-
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala)	5194	PEX13	Uncertain significance	753444647	RCV001035047;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275786	61275786	2:g.61275786A>G	-
NM_002618.4(PEX13):c.1094C>T (p.Thr365Met)	5194	PEX13	Uncertain significance	769398640	RCV001993045;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275787	61275787	61275787	-
NM_002618.4(PEX13):c.1095G>A (p.Thr365=)	5194	PEX13	Conflicting interpretations of pathogenicity	754460647	RCV000731585\|RCV002067123;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275788	61275788	NC_000002.11:g.61275788G>A	-
NM_002618.4(PEX13):c.1097T>C (p.Val366Ala)	5194	PEX13	Uncertain significance	1441442802	RCV001900595;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275790	61275790	61275790	-
NM_002618.4(PEX13):c.1104T>C (p.Asp368=)	5194	PEX13	Likely benign	-1	RCV003118920\|RCV003434696;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:C3661900	2	61275797	61275797		-
NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp)	5194	PEX13	Uncertain significance	1412376429	RCV001340569;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275820	61275820	61275820	-
NM_002618.4(PEX13):c.1132G>A (p.Glu378Lys)	5194	PEX13	Uncertain significance	1167111884	RCV001368872\|RCV003246958;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MeSH:D030342,MedGen:C0950123	2	61275825	61275825	61275825	-
NM_002618.4(PEX13):c.1132G>C (p.Glu378Gln)	5194	PEX13	Uncertain significance	1167111884	RCV001986692;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275825	61275825	61275825	-
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe)	5194	PEX13	Uncertain significance	758388660	RCV000728267\|RCV001139793;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275829	61275829	NC_000002.11:g.61275829C>T	-
NM_002618.4(PEX13):c.1138G>T (p.Val380Phe)	5194	PEX13	Uncertain significance	-1	RCV002303501;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275831	61275831	61275831	-
NM_002618.4(PEX13):c.1143T>A (p.Phe381Leu)	5194	PEX13	Uncertain significance	1680750260	RCV001990789;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275836	61275836	61275836	-
NM_002618.4(PEX13):c.1144G>C (p.Val382Leu)	5194	PEX13	Uncertain significance	886044219	RCV000260183\|RCV001859701;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275837	61275837	2:g.61275837G>C	ClinGen:CA10606494	CN169374 not specified;
NM_002618.4(PEX13):c.1149A>G (p.Glu383=)	5194	PEX13	Uncertain significance	2104814749	RCV001942396;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275842	61275842	61275842	-
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser)	5194	PEX13	Uncertain significance	1680750357	RCV001229597;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275844	61275844	2:g.61275844C>G	-
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)	5194	PEX13	Conflicting interpretations of pathogenicity	371789976	RCV000396571;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275851	61275851	NC_000002.11:g.61275851G>A	ClinGen:CA1673440	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.1158G>C (p.Lys386Asn)	5194	PEX13	Uncertain significance	371789976	RCV001887503;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275851	61275851	61275851	-
NM_002618.4(PEX13):c.1159G>A (p.Val387Ile)	5194	PEX13	Uncertain significance	-1	RCV002642570;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275852	61275852	NC_000002.11:g.61275852G>A	-
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu)	5194	PEX13	Uncertain significance	1203618499	RCV000596707\|RCV001055481;	N	MedGen:C3661900\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275856	61275856	2:g.61275856C>T	ClinGen:CA346950290	CN169374 not specified;
NM_002618.4(PEX13):c.1169C>T (p.Ala390Val)	5194	PEX13	Uncertain significance	-1	RCV002303466;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275862	61275862	61275862	-
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe)	5194	PEX13	Uncertain significance	376560254	RCV000698024;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275873	61275873	NC_000002.11:g.61275873A>T	-	C3554000 614883 Peroxisome biogenesis disorder 11A;
NM_002618.4(PEX13):c.1180A>G (p.Ile394Val)	5194	PEX13	Uncertain significance	-1	RCV003076501;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275873	61275873	NC_000002.11:g.61275873A>G	-
NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg)	5194	PEX13	Uncertain significance	1337201612	RCV001306407;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275876	61275876	61275876	-
NM_002618.4(PEX13):c.1186A>G (p.Lys396Glu)	5194	PEX13	Uncertain significance	749088744	RCV001965316;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275879	61275879	61275879	-
NM_002618.4(PEX13):c.1188A>G (p.Lys396=)	5194	PEX13	Likely benign	-1	RCV003015187;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275881	61275881		-
NM_002618.4(PEX13):c.1193G>A (p.Gly398Glu)	5194	PEX13	Uncertain significance	1680751404	RCV001228933;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275886	61275886	2:g.61275886G>A	-
NM_002618.4(PEX13):c.1199A>T (p.Lys400Met)	5194	PEX13	Uncertain significance	-1	RCV002829672;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275892	61275892	NC_000002.11:g.61275892A>T	-
NM_002618.4(PEX13):c.1203A>G (p.Gln401=)	5194	PEX13	Likely benign	2104814800	RCV002114544;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275896	61275896	61275896	-
NM_002618.4(PEX13):c.1205A>G (p.Asp402Gly)	5194	PEX13	Uncertain significance	-1	RCV002461643\|RCV003103106;	N	MedGen:CN517202\|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275898	61275898	NC_000002.11:g.61275898A>G	-
NM_002618.4(PEX13):c.*90A>G	5194	PEX13	Uncertain significance	535967834	RCV000304355;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61275995	61275995	NC_000002.11:g.61275995A>G	ClinGen:CA10615632	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*170C>G	5194	PEX13	Uncertain significance	77041272	RCV001139794;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276075	61276075	2:g.61276075C>G	-
NM_002618.4(PEX13):c.*216T>C	5194	PEX13	Uncertain significance	146980377	RCV000342902;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276121	61276121	NC_000002.11:g.61276121T>C	ClinGen:CA10614213	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*233G>T	5194	PEX13	Uncertain significance	886056198	RCV000396598;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276138	61276138	NC_000002.11:g.61276138G>T	ClinGen:CA10614224	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*263A>T	5194	PEX13	Uncertain significance	558525565	RCV000304499;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276168	61276168	NC_000002.11:g.61276168A>T	ClinGen:CA10614225	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*298G>C	5194	PEX13	Uncertain significance	886056199	RCV000359233;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276203	61276203	NC_000002.11:g.61276203G>C	ClinGen:CA10614226	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*318G>C	5194	PEX13	Uncertain significance	1573562372	RCV001140561;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276223	61276223	2:g.61276223G>C	-
NM_002618.4(PEX13):c.*357T>C	5194	PEX13	Uncertain significance	138236564	RCV001140562;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276262	61276262	2:g.61276262T>C	-
NM_002618.4(PEX13):c.*358G>A	5194	PEX13	Benign	1177230	RCV000399354;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276263	61276263	NC_000002.11:g.61276263G>A	ClinGen:CA10614227	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*383A>T	5194	PEX13	Uncertain significance	149099359	RCV000310172;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276288	61276288	NC_000002.11:g.61276288A>T	ClinGen:CA10615635	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*436T>C	5194	PEX13	Uncertain significance	1680757708	RCV001140563;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276341	61276341	2:g.61276341T>C	-
NM_002618.4(PEX13):c.*446A>G	5194	PEX13	Uncertain significance	554737021	RCV001140564;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276351	61276351	2:g.61276351A>G	-
NM_002618.4(PEX13):c.*676A>G	5194	PEX13	Uncertain significance	886056200	RCV000270177;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276581	61276581	NC_000002.11:g.61276581A>G	ClinGen:CA10614230	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*775G>A	5194	PEX13	Benign	143032208	RCV000325206;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276680	61276680	NC_000002.11:g.61276680G>A	ClinGen:CA10615645	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*803A>G	5194	PEX13	Uncertain significance	561112537	RCV000370652;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276708	61276708	NC_000002.11:g.61276708A>G	ClinGen:CA10613719	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*813G>C	5194	PEX13	Uncertain significance	781689721	RCV000276103;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276718	61276718	NC_000002.11:g.61276718G>C	ClinGen:CA10615649	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*851A>G	5194	PEX13	Uncertain significance	917019488	RCV001142419;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276756	61276756	2:g.61276756A>G	-
NM_002618.4(PEX13):c.*895C>T	5194	PEX13	Uncertain significance	979509871	RCV001142420;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276800	61276800	2:g.61276800C>T	-
NM_002618.4(PEX13):c.*944C>T	5194	PEX13	Likely benign	148184159	RCV000330919;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276849	61276849	2:g.61276849C>T	ClinGen:CA10614231	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*952C>T	5194	PEX13	Benign	56739127	RCV000385469;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276857	61276857	2:g.61276857C>T	ClinGen:CA10615902	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*953G>A	5194	PEX13	Uncertain significance	1339051481	RCV001137666;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276858	61276858	2:g.61276858G>A	-
NM_002618.4(PEX13):c.*956G>T	5194	PEX13	Uncertain significance	141215166	RCV000281617;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276861	61276861	2:g.61276861G>T	ClinGen:CA10613723	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*962G>A	5194	PEX13	Uncertain significance	931059778	RCV001137667;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276867	61276867	2:g.61276867G>A	-
NM_002618.4(PEX13):c.*1005C>A	5194	PEX13	Uncertain significance	375607663	RCV001137668;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61276910	61276910	2:g.61276910C>A	-
NM_002618.4(PEX13):c.*1174A>T	5194	PEX13	Uncertain significance	182453488	RCV001137669;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277079	61277079	2:g.61277079A>T	-
NM_002618.4(PEX13):c.*1194G>A	5194	PEX13	Benign	75205376	RCV000317941;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277099	61277099	2:g.61277099G>A	ClinGen:CA10613725	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1283C>G	5194	PEX13	Uncertain significance	886056201	RCV000372842;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277188	61277188	2:g.61277188C>G	ClinGen:CA10614234	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1376C>T	5194	PEX13	Uncertain significance	927046080	RCV001137670;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277281	61277281	2:g.61277281C>T	-
NM_002618.4(PEX13):c.*1377G>A	5194	PEX13	Uncertain significance	536283006	RCV000278296;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277282	61277282	2:g.61277282G>A	ClinGen:CA10615653	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1416G>T	5194	PEX13	Uncertain significance	573040186	RCV001139890;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277321	61277321	2:g.61277321G>T	-
NM_002618.4(PEX13):c.*1480C>G	5194	PEX13	Uncertain significance	1680773967	RCV001139891;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277385	61277385	2:g.61277385C>G	-
NM_002618.4(PEX13):c.*1533G>C	5194	PEX13	Uncertain significance	886056202	RCV000342537;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277438	61277438	2:g.61277438G>C	ClinGen:CA10615674	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1564C>G	5194	PEX13	Uncertain significance	886056203	RCV000404385;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277469	61277469	2:g.61277469C>G	ClinGen:CA10615676	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1566A>T	5194	PEX13	Uncertain significance	886056204	RCV000283663;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277471	61277471	2:g.61277471A>T	ClinGen:CA10615680	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1649C>T	5194	PEX13	Uncertain significance	1042646135	RCV001139892;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277554	61277554	2:g.61277554C>T	-
NM_002618.4(PEX13):c.*1652G>A	5194	PEX13	Benign	72877535	RCV000347981;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277557	61277557	2:g.61277557G>A	ClinGen:CA10613727	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1654T>G	5194	PEX13	Uncertain significance	1680777877	RCV001140663;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277559	61277559	2:g.61277559T>G	-
NM_002618.4(PEX13):c.*1724A>T	5194	PEX13	Likely benign	137932203	RCV000395743;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277629	61277629	2:g.61277629A>T	ClinGen:CA10614235	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1925C>T	5194	PEX13	Uncertain significance	1050392536	RCV001140664;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277830	61277830	2:g.61277830C>T	-
NM_002618.4(PEX13):c.*1943G>A	5194	PEX13	Benign	183689971	RCV000363139;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277848	61277848	2:g.61277848G>A	ClinGen:CA10613732	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1961T>C	5194	PEX13	Uncertain significance	771587917	RCV000399892;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277866	61277866	2:g.61277866T>C	ClinGen:CA10614236	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*1998T>C	5194	PEX13	Uncertain significance	559684247	RCV000313857;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61277903	61277903	2:g.61277903T>C	ClinGen:CA10613737	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*2111A>C	5194	PEX13	Uncertain significance	1680786136	RCV001140665;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278016	61278016	2:g.61278016A>C	-
NM_002618.4(PEX13):c.*2147A>G	5194	PEX13	Benign	2564097	RCV000368512;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278052	61278052	2:g.61278052A>G	ClinGen:CA10615681	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*2159T>C	5194	PEX13	Uncertain significance	886056206	RCV000274443;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278064	61278064	2:g.61278064T>C	ClinGen:CA10614237	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*2168A>T	5194	PEX13	Uncertain significance	886056207	RCV000320192;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278073	61278073	2:g.61278073A>T	ClinGen:CA10613739	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*2229C>T	5194	PEX13	Uncertain significance	1048932355	RCV001142546;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278134	61278134	2:g.61278134C>T	-
NM_002618.4(PEX13):c.*2234A>G	5194	PEX13	Uncertain significance	1358607905	RCV001142547;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278139	61278139	2:g.61278139A>G	-
NM_002618.4(PEX13):c.*2236A>C	5194	PEX13	Uncertain significance	146108177	RCV001142548;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278141	61278141	2:g.61278141A>C	-
NM_002618.4(PEX13):c.*2296G>A	5194	PEX13	Uncertain significance	886056208	RCV000356198;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278201	61278201	2:g.61278201G>A	ClinGen:CA10615903	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*2356T>C	5194	PEX13	Conflicting interpretations of pathogenicity	139999174	RCV000261484\|RCV003437072;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912\|MedGen:C3661900	2	61278261	61278261	2:g.61278261T>C	ClinGen:CA10615906	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*2368T>C	5194	PEX13	Uncertain significance	1033146733	RCV001137785;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278273	61278273	2:g.61278273T>C	-
NM_002618.4(PEX13):c.*2422T>G	5194	PEX13	Uncertain significance	958254103	RCV001137786;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278327	61278327	2:g.61278327T>G	-
NM_002618.4(PEX13):c.*2495A>T	5194	PEX13	Uncertain significance	777198802	RCV001137787;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278400	61278400	2:g.61278400A>T	-
NM_002618.4(PEX13):c.*2537T>C	5194	PEX13	Uncertain significance	1680795269	RCV001137788;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278442	61278442	2:g.61278442T>C	-
NM_002618.4(PEX13):c.*2550G>A	5194	PEX13	Uncertain significance	544817238	RCV001137789;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278455	61278455	2:g.61278455G>A	-
NM_002618.4(PEX13):c.*2581A>T	5194	PEX13	Uncertain significance	895620341	RCV001137790;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278486	61278486	2:g.61278486A>T	-
NM_002618.4(PEX13):c.*2642T>C	5194	PEX13	Uncertain significance	886056209	RCV000316538;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278547	61278547	2:g.61278547T>C	ClinGen:CA10614238	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*2749C>G	5194	PEX13	Uncertain significance	888853893	RCV001137791;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278654	61278654	2:g.61278654C>G	-
NM_002618.4(PEX13):c.*2918A>G	5194	PEX13	Uncertain significance	1680801956	RCV001140027;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278823	61278823	2:g.61278823A>G	-
NM_002618.4(PEX13):c.*3012A>G	5194	PEX13	Likely benign	144691386	RCV000286058;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278917	61278917	NC_000002.11:g.61278917A>G	ClinGen:CA10614239	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*3038A>T	5194	PEX13	Uncertain significance	886056211	RCV000322400;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278943	61278943	NC_000002.11:g.61278943A>T	ClinGen:CA10614240	C0043459 214100 Zellweger syndrome;
NM_002618.4(PEX13):c.*3050C>T	5194	PEX13	Uncertain significance	1246216348	RCV001140028;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61278955	61278955	2:g.61278955C>T	-
NM_002618.4(PEX13):c.*3106T>C	5194	PEX13	Uncertain significance	148515938	RCV001140029;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61279011	61279011	2:g.61279011T>C	-
NM_002618.4(PEX13):c.*3126A>G	5194	PEX13	Uncertain significance	745626475	RCV001140030;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61279031	61279031	2:g.61279031A>G	-
NM_002618.4(PEX13):c.*3216C>G	5194	PEX13	Uncertain significance	780132052	RCV001140031;	N	MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883, Orphanet:912	2	61279121	61279121	2:g.61279121C>G	-

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