PEX2 (peroxisomal biogenesis factor 2) - Rat Genome Database

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Gene: PEX2 (peroxisomal biogenesis factor 2) Homo sapiens
Analyze
Symbol: PEX2
Name: peroxisomal biogenesis factor 2
RGD ID: 1349650
HGNC Page HGNC:9717
Description: Enables ubiquitin protein ligase activity. Involved in several processes, including fatty acid metabolic process; negative regulation of cell population proliferation; and pexophagy. Located in nucleoplasm. Part of Cdc73/Paf1 complex. Is active in peroxisomal membrane. Implicated in Peroxisome biogenesis disorder 5B and peroxisome biogenesis disorder 5A.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 35 kDa peroxisomal membrane protein; PAF-1; PAF1; PBD5A; PBD5B; peroxisomal membrane protein 3, 35kDa; peroxisome assembly factor 1; peroxisome assembly factor-1; peroxisome biogenesis factor 2; PMP3; PMP35; PXMP3; RING finger protein 72; RNF72; ZWS3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38876,980,258 - 77,001,044 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl876,980,258 - 77,001,044 (-)EnsemblGRCh38hg38GRCh38
GRCh37877,892,494 - 77,913,280 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36878,055,049 - 78,075,079 (-)NCBINCBI36Build 36hg18NCBI36
Build 34878,057,712 - 78,074,994NCBI
Celera873,885,870 - 73,906,661 (-)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef873,378,964 - 73,399,755 (-)NCBIHuRef
CHM1_1877,944,088 - 77,964,880 (-)NCBICHM1_1
T2T-CHM13v2.0877,409,691 - 77,430,483 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-noradrenaline  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
chromium(6+)  (EXP)
clofibrate  (ISO)
clotrimazole  (ISO)
cocaine  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
heptanal  (EXP)
hexanal  (EXP)
indometacin  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mercury dibromide  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
nefazodone  (ISO)
nonanal  (EXP)
octanal  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
propanal  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
sulindac  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Cdc73/Paf1 complex  (IBA,IDA)
cytosol  (TAS)
membrane  (HDA,IEA)
nucleoplasm  (IDA)
peroxisomal membrane  (HDA,IBA,IDA,IEA,IMP,ISO,TAS)
peroxisome  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal chorioretinal morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal helix morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the tongue  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteverted nares  (IAGP)
Aortic regurgitation  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Brushfield spots  (IAGP)
Camptodactyly  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Childhood onset  (IAGP)
Cholestasis  (IAGP)
Cleft palate  (IAGP)
Clitoral hypertrophy  (IAGP)
Cognitive impairment  (IAGP)
Colpocephaly  (IAGP)
Congenital onset  (IAGP)
Conjugated hyperbilirubinemia  (IAGP)
Constriction of peripheral visual field  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Death in adolescence  (IAGP)
Death in childhood  (IAGP)
Death in infancy  (IAGP)
Decreased liver function  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Difficulty running  (IAGP)
Dolichocephaly  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating phytanic acid concentration  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Epicanthus  (IAGP)
Epiphyseal stippling  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal distress  (IAGP)
Flat face  (IAGP)
Flat occiput  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Heart murmur  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypoplastic nipples  (IAGP)
Hyporeflexia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased circulating very long-chain fatty acid concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intrahepatic biliary dysgenesis  (IAGP)
Intrauterine growth retardation  (IAGP)
Jaundice  (IAGP)
Joint hypermobility  (IAGP)
Large fontanelles  (IAGP)
Lethargy  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malabsorption  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Mitral regurgitation  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Optic nerve dysplasia  (IAGP)
Pachygyria  (IAGP)
Palpebral edema  (IAGP)
Pendular nystagmus  (IAGP)
Persistent open anterior fontanelle  (IAGP)
Pes cavus  (IAGP)
Pigmentary retinopathy  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polymicrogyria  (IAGP)
Poor suck  (IAGP)
Posterior embryotoxon  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature birth  (IAGP)
Primary adrenal insufficiency  (IAGP)
Profound global developmental delay  (IAGP)
Progressive muscle weakness  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal cortical microcysts  (IAGP)
Renal cyst  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Round face  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal dysplasia  (IAGP)
Slow saccadic eye movements  (IAGP)
Slowly progressive  (IAGP)
Small for gestational age  (IAGP)
Small nail  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Stippled chondral calcification  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Tremor  (IAGP)
Tricuspid regurgitation  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Unsteady gait  (IAGP)
Upslanted palpebral fissure  (IAGP)
Variable expressivity  (IAGP)
Vegetative state  (IAGP)
Ventricular septal defect  (IAGP)
Very long chain fatty acid accumulation  (IAGP)
Visual impairment  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A mouse model for Zellweger syndrome. Baes M, etal., Nat Genet. 1997 Sep;17(1):49-57.
2. Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder. Faust PL and Hatten ME, J Cell Biol. 1997 Dec 1;139(5):1293-305.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1426230   PMID:1546315   PMID:1750930   PMID:2454948   PMID:7600573   PMID:7681622   PMID:8020947   PMID:8858157   PMID:9452066   PMID:9765053   PMID:10528859   PMID:10837480  
PMID:10891359   PMID:11590176   PMID:12477932   PMID:12751901   PMID:15342556   PMID:15489334   PMID:15542397   PMID:16169070   PMID:16344560   PMID:18359941   PMID:18391951   PMID:18987311  
PMID:19208625   PMID:19946888   PMID:20301621   PMID:20379614   PMID:20531392   PMID:20546612   PMID:20881960   PMID:21102462   PMID:21392394   PMID:21525035   PMID:21554508   PMID:21658281  
PMID:21832049   PMID:21873635   PMID:21903356   PMID:22002062   PMID:23590336   PMID:24501781   PMID:24662292   PMID:25231870   PMID:25281659   PMID:26344566   PMID:27597759   PMID:28675297  
PMID:29458144   PMID:30378028   PMID:33087821   PMID:33845483   PMID:33961781   PMID:34903883   PMID:35768507   PMID:36359803   PMID:36736316  


Genomics

Comparative Map Data
PEX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38876,980,258 - 77,001,044 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl876,980,258 - 77,001,044 (-)EnsemblGRCh38hg38GRCh38
GRCh37877,892,494 - 77,913,280 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36878,055,049 - 78,075,079 (-)NCBINCBI36Build 36hg18NCBI36
Build 34878,057,712 - 78,074,994NCBI
Celera873,885,870 - 73,906,661 (-)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef873,378,964 - 73,399,755 (-)NCBIHuRef
CHM1_1877,944,088 - 77,964,880 (-)NCBICHM1_1
T2T-CHM13v2.0877,409,691 - 77,430,483 (-)NCBIT2T-CHM13v2.0
Pex2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3935,625,248 - 5,643,655 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl35,625,248 - 5,641,299 (-)EnsemblGRCm39 Ensembl
GRCm3835,560,188 - 5,578,596 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl35,560,188 - 5,576,239 (-)EnsemblGRCm38mm10GRCm38
MGSCv3735,560,188 - 5,576,239 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3635,543,577 - 5,559,201 (-)NCBIMGSCv36mm8
Celera35,637,555 - 5,653,606 (-)NCBICelera
Cytogenetic Map3A1NCBI
cM Map31.96NCBI
Pex2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8297,957,479 - 97,973,767 (+)NCBIGRCr8
mRatBN7.2296,050,380 - 96,072,928 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl296,045,958 - 96,073,404 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2102,587,325 - 102,603,512 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02100,708,411 - 100,724,598 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0295,763,317 - 95,779,508 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0298,251,756 - 98,269,185 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl298,252,925 - 98,269,184 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02117,990,545 - 118,007,746 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4298,361,891 - 98,378,715 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1298,306,852 - 98,323,677 (+)NCBI
Celera291,566,959 - 91,583,216 (+)NCBICelera
Cytogenetic Map2q23NCBI
Pex2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554443,811,973 - 3,830,666 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554443,811,972 - 3,830,666 (+)NCBIChiLan1.0ChiLan1.0
PEX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2792,717,778 - 92,735,460 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1868,345,570 - 68,363,805 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0873,508,349 - 73,526,560 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1875,145,061 - 75,163,338 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl875,146,255 - 75,147,172 (-)Ensemblpanpan1.1panPan2
PEX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12924,943,563 - 24,960,834 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2925,206,108 - 25,223,363 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02925,055,730 - 25,073,096 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2925,055,743 - 25,073,046 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12925,130,967 - 25,148,201 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02925,148,141 - 25,165,401 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02925,500,349 - 25,517,613 (-)NCBIUU_Cfam_GSD_1.0
Pex2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530354,180,390 - 54,197,777 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367021,573,650 - 1,591,004 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367021,573,616 - 1,626,323 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PEX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl459,252,337 - 59,270,116 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1459,252,330 - 59,270,117 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2464,716,680 - 64,745,314 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PEX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1872,513,975 - 72,532,399 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl872,514,307 - 72,517,003 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603968,748,476 - 68,767,273 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pex2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474414,240,570 - 14,245,183 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474414,227,430 - 14,245,082 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PEX2
475 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) single nucleotide variant PEX2-related disorder [RCV004748521]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000014703]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002496363]|Peroxisome biogenesis disorder 5B [RCV000032924]|Peroxisome biogenesis disorder [RCV000589554]|Zellweger spectrum disorders [RCV001275872]|not provided [RCV002223176] Chr8:76983824 [GRCh38]
Chr8:77896060 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) single nucleotide variant Peroxisome biogenesis disorder 5B [RCV000014704]|Peroxisome biogenesis disorder [RCV003323360] Chr8:76984016 [GRCh38]
Chr8:77896252 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1 copy number loss See cases [RCV000051117] Chr8:73519300..82655582 [GRCh38]
Chr8:74431535..83567817 [GRCh37]
Chr8:74594089..83730372 [NCBI36]
Chr8:8q21.11-21.13		 pathogenic
GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3 copy number gain See cases [RCV000052184] Chr8:75021712..78044590 [GRCh38]
Chr8:75933947..78956825 [GRCh37]
Chr8:76096502..79119380 [NCBI36]
Chr8:8q21.13		 uncertain significance
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13		 pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1 copy number loss See cases [RCV000054259] Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2		 pathogenic
NM_000318.3(PEX2):c.722G>T (p.Gly241Val) single nucleotide variant Inborn genetic diseases [RCV004019529]|PEX2-related disorder [RCV003974959]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001085208]|not provided [RCV000078631] Chr8:76983457 [GRCh38]
Chr8:77895693 [GRCh37]
Chr8:8q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) single nucleotide variant PEX2-related disorder [RCV003905040]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000660597]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000967707]|Zellweger spectrum disorders [RCV001276118]|not provided [RCV001546509]|not specified [RCV000078632] Chr8:76984088 [GRCh38]
Chr8:77896324 [GRCh37]
Chr8:8q21.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000262649]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001082068]|Peroxisome biogenesis disorder 5B [RCV001578657]|Zellweger spectrum disorders [RCV001835683]|not provided [RCV000435678]|not specified [RCV000117903] Chr8:76983431 [GRCh38]
Chr8:76983431..76983432 [GRCh38]
Chr8:77895667 [GRCh37]
Chr8:77895667..77895668 [GRCh37]
Chr8:8q21.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_000318.3(PEX2):c.834_838del (p.Phe278fs) microsatellite Peroxisome biogenesis disorder 5A (Zellweger) [RCV000411582]|Peroxisome biogenesis disorder 5B [RCV000409075] Chr8:76983341..76983345 [GRCh38]
Chr8:77895577..77895581 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000128529]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV005049426]|Peroxisome biogenesis disorder [RCV000781714]|Zellweger spectrum disorders [RCV001275875] Chr8:76983896..76983900 [GRCh38]
Chr8:77896132..77896136 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000128530] Chr8:76983440 [GRCh38]
Chr8:77895676 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) single nucleotide variant Peroxisome biogenesis disorder 5B [RCV000128531] Chr8:76983510 [GRCh38]
Chr8:77895746 [GRCh37]
Chr8:8q21.13		 pathogenic
GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1 copy number loss See cases [RCV000133719] Chr8:74905308..81339951 [GRCh38]
Chr8:75817543..82252186 [GRCh37]
Chr8:75980098..82414741 [NCBI36]
Chr8:8q21.13		 pathogenic
GRCh38/hg38 8q21.13(chr8:76115629-78506009)x1 copy number loss See cases [RCV000135389] Chr8:76115629..78506009 [GRCh38]
Chr8:77027864..79418244 [GRCh37]
Chr8:77190419..79580799 [NCBI36]
Chr8:8q21.13		 uncertain significance
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000988075]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001522468]|Zellweger spectrum disorders [RCV001826826]|not provided [RCV004712144]|not specified [RCV000153682] Chr8:76983629 [GRCh38]
Chr8:77895865 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.865dup (p.Ser289fs) duplication Peroxisome biogenesis disorder 5B [RCV000149879] Chr8:76983313..76983314 [GRCh38]
Chr8:77895549..77895550 [GRCh37]
Chr8:8q21.13		 pathogenic|not provided
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe) single nucleotide variant PEX2-related disorder [RCV003937430]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001081360]|not provided [RCV000153683] Chr8:76983910 [GRCh38]
Chr8:77896146 [GRCh37]
Chr8:8q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000669443] Chr8:76983473..76983478 [GRCh38]
Chr8:77895709..77895714 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000669502] Chr8:76983875 [GRCh38]
Chr8:77896111 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.826G>C (p.Val276Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001221332]|Zellweger spectrum disorders [RCV001829667]|not provided [RCV000595773] Chr8:76983353 [GRCh38]
Chr8:77895589 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.857_859del (p.Glu286del) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000670056] Chr8:76983320..76983322 [GRCh38]
Chr8:77895556..77895558 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.740G>A (p.Cys247Tyr) single nucleotide variant not provided [RCV000256147] Chr8:76983439 [GRCh38]
Chr8:77895675 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001079379]|Zellweger spectrum disorders [RCV001275870]|not provided [RCV000832320]|not specified [RCV000250054] Chr8:76983446 [GRCh38]
Chr8:77895682 [GRCh37]
Chr8:8q21.13		 benign|likely benign
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13		 likely pathogenic
NM_000318.3(PEX2):c.*1242A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000266959] Chr8:76982019 [GRCh38]
Chr8:77894255 [GRCh37]
Chr8:8q21.13		 benign|uncertain significance
NM_000318.3(PEX2):c.*1716A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000369403] Chr8:76981545 [GRCh38]
Chr8:77893781 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*40G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000268612] Chr8:76983221 [GRCh38]
Chr8:77895457 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2142A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000344934]|not provided [RCV004712629] Chr8:76981119 [GRCh38]
Chr8:77893355 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.*233C>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000269718] Chr8:76983028 [GRCh38]
Chr8:77895264 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.*2920_*2922del deletion Peroxisome biogenesis disorder 1A (Zellweger) [RCV000303737] Chr8:76980339..76980341 [GRCh38]
Chr8:77892575..77892577 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1194A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000324558]|not provided [RCV004712632] Chr8:76982067 [GRCh38]
Chr8:77894303 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000372099] Chr8:76984027 [GRCh38]
Chr8:77896263 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.-183G>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000397914] Chr8:77000013 [GRCh38]
Chr8:77912249 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1765G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000398488]|not provided [RCV004707205] Chr8:76981496 [GRCh38]
Chr8:77893732 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.*2007A>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000286386] Chr8:76981254 [GRCh38]
Chr8:77893490 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.2(PEX2):c.-273G>A single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000287716] Chr8:77000103 [GRCh38]
Chr8:77912339 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1448C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000325601] Chr8:76981813 [GRCh38]
Chr8:77894049 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.*458G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000400491]|not provided [RCV004712634] Chr8:76982803 [GRCh38]
Chr8:77895039 [GRCh37]
Chr8:8q21.13		 benign|uncertain significance
NM_000318.3(PEX2):c.*2294C>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000287637] Chr8:76980967 [GRCh38]
Chr8:77893203 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2338C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000327549]|not provided [RCV004712628] Chr8:76980923 [GRCh38]
Chr8:77893159 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.*1466ATT[1] microsatellite Peroxisome biogenesis disorder 1A (Zellweger) [RCV000272829] Chr8:76981790..76981792 [GRCh38]
Chr8:77894026..77894028 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1141G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000376758] Chr8:76982120 [GRCh38]
Chr8:77894356 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.*103C>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000308524] Chr8:76983158 [GRCh38]
Chr8:77895394 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.*2057G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000378491] Chr8:76981204 [GRCh38]
Chr8:77893440 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2973T>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000400919] Chr8:76980288 [GRCh38]
Chr8:77892524 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2377A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000275336]|not provided [RCV004712627] Chr8:76980884 [GRCh38]
Chr8:77893120 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.*1602A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000311398] Chr8:76981659 [GRCh38]
Chr8:77893895 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.24G>A (p.Ala8=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000332603]|Zellweger spectrum disorders [RCV001275877]|not provided [RCV000676169] Chr8:76984155 [GRCh38]
Chr8:77896391 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.*2894T>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000355885] Chr8:76980367 [GRCh38]
Chr8:77892603 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.-164C>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000292942]|not provided [RCV004712635] Chr8:76999994 [GRCh38]
Chr8:76999994..76999995 [GRCh38]
Chr8:77912230 [GRCh37]
Chr8:77912230..77912231 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.*2446C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000333872] Chr8:76980815 [GRCh38]
Chr8:77893051 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.*1696C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000277391]|not provided [RCV004712631] Chr8:76981565 [GRCh38]
Chr8:77893801 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.*727T>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000335628]|not provided [RCV004712633] Chr8:76982534 [GRCh38]
Chr8:77894770 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.*2306A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000384495] Chr8:76980955 [GRCh38]
Chr8:77893191 [GRCh37]
Chr8:8q21.13		 benign|uncertain significance
NM_000318.3(PEX2):c.*595C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000314494] Chr8:76982666 [GRCh38]
Chr8:77894902 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) single nucleotide variant Inborn genetic diseases [RCV004955470]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000359695]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000660510]|Zellweger spectrum disorders [RCV001828362] Chr8:76983410 [GRCh38]
Chr8:77895646 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000310327]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV005044543]|Peroxisome biogenesis disorder 5B [RCV000410454]|Peroxisome biogenesis disorder [RCV000587540]|Zellweger spectrum disorders [RCV001275873]|not provided [RCV000726022] Chr8:76983834..76983840 [GRCh38]
Chr8:77896070..77896076 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000318.3(PEX2):c.*2663T>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000316203]|not provided [RCV004712626] Chr8:76980598 [GRCh38]
Chr8:77892834 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.*1909G>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000338974]|not provided [RCV004712630] Chr8:76981352 [GRCh38]
Chr8:77893588 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.-13del deletion Peroxisome biogenesis disorder 1A (Zellweger) [RCV000389574] Chr8:76984191 [GRCh38]
Chr8:77896427 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1842G>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000299694] Chr8:76981419 [GRCh38]
Chr8:77893655 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.*627G>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000393396] Chr8:76982634 [GRCh38]
Chr8:77894870 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.19A>C (p.Asn7His) single nucleotide variant Inborn genetic diseases [RCV003258733]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002519315]|not provided [RCV000303985] Chr8:76984160 [GRCh38]
Chr8:77896396 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.477G>A (p.Gln159=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000972786]|not provided [RCV003422202]|not specified [RCV000337534] Chr8:76983702 [GRCh38]
Chr8:77895938 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.67C>T (p.Leu23Phe) single nucleotide variant not provided [RCV000303913] Chr8:76984112 [GRCh38]
Chr8:77896348 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001086854]|Peroxisome biogenesis disorder 5B [RCV001578804]|not provided [RCV000514881]|not specified [RCV000382602] Chr8:76983970 [GRCh38]
Chr8:77896206 [GRCh37]
Chr8:8q21.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.237A>G (p.Ser79=) single nucleotide variant PEX2-related disorder [RCV003949912]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000884934]|not provided [RCV003430823]|not specified [RCV000349532] Chr8:76983942 [GRCh38]
Chr8:77896178 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.*2787G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000263439] Chr8:76980474 [GRCh38]
Chr8:77892710 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) single nucleotide variant Inborn genetic diseases [RCV003165763]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163869]|Zellweger spectrum disorders [RCV001828256]|not provided [RCV000285596] Chr8:76983857 [GRCh38]
Chr8:77896093 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2466A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000276451] Chr8:76980795 [GRCh38]
Chr8:77893031 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*819A>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000278278] Chr8:76982442 [GRCh38]
Chr8:77894678 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001078844]|Zellweger spectrum disorders [RCV001275869]|not provided [RCV000405154] Chr8:76983384 [GRCh38]
Chr8:77895620 [GRCh37]
Chr8:8q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr) single nucleotide variant Inborn genetic diseases [RCV002532556]|Zellweger spectrum disorders [RCV001829673]|not provided [RCV000727272] Chr8:76983628 [GRCh38]
Chr8:77895864 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg) single nucleotide variant Zellweger spectrum disorders [RCV001279839] Chr8:76984125 [GRCh38]
Chr8:77896361 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.166G>A (p.Val56Met) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001367687] Chr8:76984013 [GRCh38]
Chr8:77896249 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.2(PEX2):c.-278C>G single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000344989] Chr8:77000108 [GRCh38]
Chr8:77912344 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1854A>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000399840] Chr8:76981407 [GRCh38]
Chr8:77893643 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1370A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000382416] Chr8:76981891 [GRCh38]
Chr8:77894127 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.2(PEX2):c.-367A>G single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000305255] Chr8:77000197 [GRCh38]
Chr8:77912433 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*489C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000348353] Chr8:76982772 [GRCh38]
Chr8:77895008 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*277_*279del deletion Peroxisome biogenesis disorder 1A (Zellweger) [RCV000366660] Chr8:76982982..76982984 [GRCh38]
Chr8:77895218..77895220 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.-178C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000350256] Chr8:77000008 [GRCh38]
Chr8:77912244 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2430T>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000386115] Chr8:76980831 [GRCh38]
Chr8:77893067 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1085T>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000284721] Chr8:76982176 [GRCh38]
Chr8:77894412 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1561G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000368367] Chr8:76981700 [GRCh38]
Chr8:77893936 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*37C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000321349] Chr8:76983224 [GRCh38]
Chr8:77895460 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*324G>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000308640] Chr8:76982937 [GRCh38]
Chr8:77895173 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1047T>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000337475] Chr8:76982214 [GRCh38]
Chr8:77894450 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.2(PEX2):c.-335C>T single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000390134] Chr8:77000165 [GRCh38]
Chr8:77912401 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1811C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000338221] Chr8:76981450 [GRCh38]
Chr8:77893686 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2518C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000354675] Chr8:76980743 [GRCh38]
Chr8:77892979 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1755A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000298598] Chr8:76981506 [GRCh38]
Chr8:77893742 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.2(PEX2):c.-369C>T single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000357590] Chr8:77000199 [GRCh38]
Chr8:77912435 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*913C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000375770] Chr8:76982348 [GRCh38]
Chr8:77894584 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*91A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000360942] Chr8:76983170 [GRCh38]
Chr8:77895406 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.310dup (p.Ile104fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV001388280]|Peroxisome biogenesis disorder [RCV005240310]|Zellweger spectrum disorders [RCV001275874]|not provided [RCV000598973] Chr8:76983868..76983869 [GRCh38]
Chr8:77896104..77896105 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.825C>T (p.Asp275=) single nucleotide variant PEX2-related disorder [RCV003925778]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001080311]|Zellweger spectrum disorders [RCV001279838]|not provided [RCV000593351] Chr8:76983354 [GRCh38]
Chr8:77895590 [GRCh37]
Chr8:8q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001079867.1(PEX2):c.550_551delCGinsCA (p.Arg184His) indel not specified [RCV000595965] Chr8:76983628..76983629 [GRCh38]
Chr8:77895864..77895865 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.624dup (p.Pro209fs) duplication Inborn genetic diseases [RCV002532697]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV004568319]|not provided [RCV000599473] Chr8:76983554..76983555 [GRCh38]
Chr8:77895790..77895791 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.748T>G (p.Trp250Gly) single nucleotide variant not provided [RCV000598194] Chr8:76983431 [GRCh38]
Chr8:77895667 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn) single nucleotide variant Inborn genetic diseases [RCV002535189]|PEX2-related disorder [RCV004748937]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001061646]|Zellweger spectrum disorders [RCV001825465]|not provided [RCV000731121] Chr8:76983481 [GRCh38]
Chr8:77895717 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) single nucleotide variant Inborn genetic diseases [RCV002535252]|PEX2-related disorder [RCV003918211]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163870]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001250053]|Zellweger spectrum disorders [RCV001825468]|not provided [RCV000732005] Chr8:76983897 [GRCh38]
Chr8:77896133 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NC_000008.10:g.77896105T>TT single nucleotide variant not provided [RCV000731160] Chr8:77896105 [GRCh37]
Chr8:8q21.11		 pathogenic
NC_000008.10:g.77895791T>TT single nucleotide variant not provided [RCV000731161] Chr8:77895791 [GRCh37]
Chr8:8q21.11		 pathogenic
NM_000318.3(PEX2):c.174G>A (p.Ala58=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001492356]|not provided [RCV000731227] Chr8:76984005 [GRCh38]
Chr8:77896241 [GRCh37]
Chr8:8q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys) single nucleotide variant Inborn genetic diseases [RCV003165994]|PEX2-related disorder [RCV003965552]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001066961]|Zellweger spectrum disorders [RCV001825483]|not provided [RCV000734498] Chr8:76983875 [GRCh38]
Chr8:77896111 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.865A>G (p.Ser289Gly) single nucleotide variant not provided [RCV000733895] Chr8:76983314 [GRCh38]
Chr8:77895550 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.112A>G (p.Thr38Ala) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001855797]|not provided [RCV000734062] Chr8:76984067 [GRCh38]
Chr8:77896303 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.551G>T (p.Cys184Phe) single nucleotide variant not provided [RCV000729856] Chr8:76983628 [GRCh38]
Chr8:77895864 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.773G>C (p.Gly258Ala) single nucleotide variant not provided [RCV000732794] Chr8:76983406 [GRCh38]
Chr8:77895642 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.596G>C (p.Gly199Ala) single nucleotide variant not provided [RCV000732886] Chr8:76983583 [GRCh38]
Chr8:77895819 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.579G>A (p.Arg193=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003768242]|not provided [RCV000734260] Chr8:76983600 [GRCh38]
Chr8:77895836 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.447T>G (p.Gly149=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001086562]|Zellweger spectrum disorders [RCV001276114]|not provided [RCV000728093] Chr8:76983732 [GRCh38]
Chr8:77895968 [GRCh37]
Chr8:8q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.619C>G (p.Leu207Val) single nucleotide variant PEX2-related disorder [RCV003420293]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001862178]|not provided [RCV000729548] Chr8:76983560 [GRCh38]
Chr8:77895796 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)x1 copy number loss See cases [RCV000445718] Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1 copy number loss See cases [RCV000511429] Chr8:77751515..83516216 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000318.3(PEX2):c.738A>G (p.Leu246=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001078723]|not provided [RCV000595305] Chr8:76983441 [GRCh38]
Chr8:77895677 [GRCh37]
Chr8:8q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_000318.3(PEX2):c.550= (p.Cys184=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001082036]|not provided [RCV000586023] Chr8:76983629 [GRCh38]
Chr8:77895865 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000672565] Chr8:76983263 [GRCh38]
Chr8:77895499 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000666847] Chr8:76983295 [GRCh38]
Chr8:77895531 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000670666]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV003472127] Chr8:76983824..76983825 [GRCh38]
Chr8:77896060..77896061 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.472del (p.Leu158fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000668243] Chr8:76983707 [GRCh38]
Chr8:77895943 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000664468]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001053880]|Peroxisome biogenesis disorder 5B [RCV002281578]|Peroxisome biogenesis disorder [RCV000780588]|Zellweger spectrum disorders [RCV001275871]|not provided [RCV003231574] Chr8:76983806 [GRCh38]
Chr8:77896042 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.782A>G (p.His261Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000674153]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001855605]|See cases [RCV003156108]|not specified [RCV002265854] Chr8:76983397 [GRCh38]
Chr8:77895633 [GRCh37]
Chr8:8q21.13		 pathogenic|uncertain significance
NM_000318.3(PEX2):c.-17-2A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000672992]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001251181] Chr8:76984197 [GRCh38]
Chr8:77896433 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic|uncertain significance
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del) microsatellite Peroxisome biogenesis disorder 5A (Zellweger) [RCV000672893]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002531325] Chr8:76983825..76983827 [GRCh38]
Chr8:77896061..77896063 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.502_503del (p.Glu168fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000666754] Chr8:76983676..76983677 [GRCh38]
Chr8:77895912..77895913 [GRCh37]
Chr8:8q21.13		 likely pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1 copy number loss not provided [RCV000683031] Chr8:74942333..80413867 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8q21.11-21.12(chr8:77345003-79544235)x1 copy number loss not provided [RCV000683018] Chr8:77345003..79544235 [GRCh37]
Chr8:8q21.11-21.12		 pathogenic
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000686680]|Zellweger spectrum disorders [RCV001829894] Chr8:76983463 [GRCh38]
Chr8:77895699 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.720T>C (p.Ser240=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002071897]|not provided [RCV001531084] Chr8:76983459 [GRCh38]
Chr8:77895695 [GRCh37]
Chr8:8q21.13		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000318.3(PEX2):c.-17-41G>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001532827]|not provided [RCV001720305] Chr8:76984236 [GRCh38]
Chr8:77896472 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002568470]|not provided [RCV001573354] Chr8:76983893 [GRCh38]
Chr8:77896129 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln) single nucleotide variant Inborn genetic diseases [RCV003346297]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001066793]|Zellweger spectrum disorders [RCV001833648] Chr8:76983805 [GRCh38]
Chr8:77896041 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.288G>A (p.Gln96=) single nucleotide variant PEX2-related disorder [RCV003925846]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000943559]|Zellweger spectrum disorders [RCV001276116] Chr8:76983891 [GRCh38]
Chr8:77896127 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.96A>G (p.Leu32=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000942734] Chr8:76984083 [GRCh38]
Chr8:77896319 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) single nucleotide variant PEX2-related disorder [RCV003905995]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000970645]|Peroxisome biogenesis disorder 5B [RCV001578803]|Zellweger spectrum disorders [RCV001276113] Chr8:76983287 [GRCh38]
Chr8:77895523 [GRCh37]
Chr8:8q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.129A>G (p.Gly43=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000882208]|Zellweger spectrum disorders [RCV001276117] Chr8:76984050 [GRCh38]
Chr8:77896286 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.783T>C (p.His261=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001476082] Chr8:76983396 [GRCh38]
Chr8:77895632 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.120C>T (p.Cys40=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002066046] Chr8:76984059 [GRCh38]
Chr8:77896295 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.732C>T (p.Cys244=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000938066] Chr8:76983447 [GRCh38]
Chr8:77895683 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.642G>A (p.Gln214=) single nucleotide variant PEX2-related disorder [RCV003895588]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000919353] Chr8:76983537 [GRCh38]
Chr8:77895773 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.33A>G (p.Ala11=) single nucleotide variant not provided [RCV000962336] Chr8:76984146 [GRCh38]
Chr8:77896382 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.550del (p.Cys184fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000794931]|Zellweger spectrum disorders [RCV001391252] Chr8:76983629 [GRCh38]
Chr8:77895865 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) single nucleotide variant PEX2-related disorder [RCV004748982]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV000814886]|Zellweger spectrum disorders [RCV001275876] Chr8:76984040 [GRCh38]
Chr8:77896276 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.218del (p.Asn73fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV000808915] Chr8:76983961 [GRCh38]
Chr8:77896197 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000820647] Chr8:76983682 [GRCh38]
Chr8:77895918 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000805043]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV005049698] Chr8:76983947 [GRCh38]
Chr8:77896183 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.*1858G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001165456] Chr8:76981403 [GRCh38]
Chr8:77893639 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2004C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001165455] Chr8:76981257 [GRCh38]
Chr8:77893493 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.456T>G (p.Ile152Met) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163868] Chr8:76983723 [GRCh38]
Chr8:77895959 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.66A>C (p.Ala22=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000936253]|Zellweger spectrum disorders [RCV001832133] Chr8:76984113 [GRCh38]
Chr8:77896349 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.373C>A (p.Arg125=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001888982] Chr8:76983806 [GRCh38]
Chr8:77896042 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.*789C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163752] Chr8:76982472 [GRCh38]
Chr8:77894708 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.*2700G>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001161835] Chr8:76980561 [GRCh38]
Chr8:77892797 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1581T>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001161942] Chr8:76981680 [GRCh38]
Chr8:77893916 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2443A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163355] Chr8:76980818 [GRCh38]
Chr8:77893054 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.*1331T>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163461] Chr8:76981930 [GRCh38]
Chr8:77894166 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1319A>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163462] Chr8:76981942 [GRCh38]
Chr8:77894178 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1174A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163463]|not provided [RCV003433065] Chr8:76982087 [GRCh38]
Chr8:77894323 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.*1400A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001161943] Chr8:76981861 [GRCh38]
Chr8:77894097 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.517A>G (p.Ile173Val) single nucleotide variant Inborn genetic diseases [RCV003365282]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001241914] Chr8:76983662 [GRCh38]
Chr8:77895898 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000318.3(PEX2):c.78_80del (p.Asn26del) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001237380] Chr8:76984099..76984101 [GRCh38]
Chr8:77896335..77896337 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001202424]|Zellweger spectrum disorders [RCV001833779] Chr8:76983446 [GRCh38]
Chr8:77895682 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.34_37del (p.Asn12fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001210965] Chr8:76984142..76984145 [GRCh38]
Chr8:77896378..77896381 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.*498G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001160189] Chr8:76982763 [GRCh38]
Chr8:77894999 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*394T>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001160192] Chr8:76982867 [GRCh38]
Chr8:77895103 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.483A>G (p.Gly161=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001578806]|Peroxisome biogenesis disorder 5B [RCV001578654] Chr8:76983696 [GRCh38]
Chr8:77895932 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002543878]|Peroxisome biogenesis disorder 5B [RCV002290741]|not provided [RCV001723431] Chr8:76983310 [GRCh38]
Chr8:77895546 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.85C>T (p.Leu29=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV000977235] Chr8:76984094 [GRCh38]
Chr8:77896330 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.771A>T (p.Ile257=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003537351] Chr8:76983408 [GRCh38]
Chr8:77895644 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.415G>T (p.Val139Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001034724] Chr8:76983764 [GRCh38]
Chr8:77896000 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys) single nucleotide variant Inborn genetic diseases [RCV003353181]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001158942] Chr8:76984028 [GRCh38]
Chr8:77896264 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1601T>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001161941]|not provided [RCV004712971] Chr8:76981660 [GRCh38]
Chr8:77893896 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163867]|See cases [RCV002252321] Chr8:76983655 [GRCh38]
Chr8:77895891 [GRCh37]
Chr8:8q21.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) single nucleotide variant Inborn genetic diseases [RCV003284106]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001239395]|Peroxisome biogenesis disorder 5B [RCV001578805]|Zellweger spectrum disorders [RCV001834086] Chr8:76984039 [GRCh38]
Chr8:77896275 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg) single nucleotide variant Inborn genetic diseases [RCV002568564]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001243083]|Zellweger spectrum disorders [RCV001829012] Chr8:76983437 [GRCh38]
Chr8:77895673 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*319A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001160193]|not provided [RCV003425965] Chr8:76982942 [GRCh38]
Chr8:77895178 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.*1040C>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163750]|not provided [RCV002264209] Chr8:76982221 [GRCh38]
Chr8:77894457 [GRCh37]
Chr8:8q21.13		 benign|likely benign
NM_000318.3(PEX2):c.352del (p.Glu118fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003475388]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV005042852]|Peroxisome biogenesis disorder [RCV002469971] Chr8:76983827 [GRCh38]
Chr8:77896063 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001043590]|Zellweger spectrum disorders [RCV001276119] Chr8:76984103 [GRCh38]
Chr8:77896339 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2519G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001161837] Chr8:76980742 [GRCh38]
Chr8:77892978 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1606T>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001161940] Chr8:76981655 [GRCh38]
Chr8:77893891 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*773T>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163754] Chr8:76982488 [GRCh38]
Chr8:77894724 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1808C>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001158727] Chr8:76981453 [GRCh38]
Chr8:77893689 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*645G>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001158844] Chr8:76982616 [GRCh38]
Chr8:77894852 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001158943] Chr8:76984063 [GRCh38]
Chr8:77896299 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*437T>C single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001160190] Chr8:76982824 [GRCh38]
Chr8:77895060 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2554G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001161836] Chr8:76980707 [GRCh38]
Chr8:77892943 [GRCh37]
Chr8:8q21.13		 benign
NM_000318.3(PEX2):c.*2404A>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163356] Chr8:76980857 [GRCh38]
Chr8:77893093 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.666A>G (p.Ser222=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001578655]|Peroxisome biogenesis disorder 5B [RCV001578656] Chr8:76983513 [GRCh38]
Chr8:77895749 [GRCh37]
Chr8:8q21.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000318.3(PEX2):c.*780T>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163753] Chr8:76982481 [GRCh38]
Chr8:77894717 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.331A>G (p.Ile111Val) single nucleotide variant Inborn genetic diseases [RCV002552506]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001042037]|Zellweger spectrum disorders [RCV001276115] Chr8:76983848 [GRCh38]
Chr8:77896084 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.404T>C (p.Val135Ala) single nucleotide variant PEX2-related disorder [RCV003414064]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001245943]|Zellweger spectrum disorders [RCV001835253] Chr8:76983775 [GRCh38]
Chr8:77896011 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.549_550del (p.Ile183fs) microsatellite Peroxisome biogenesis disorder 5A (Zellweger) [RCV001064243]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV005047277] Chr8:76983629..76983630 [GRCh38]
Chr8:77895865..77895866 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.*1012C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001163751] Chr8:76982249 [GRCh38]
Chr8:77894485 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*1749A>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001158728] Chr8:76981512 [GRCh38]
Chr8:77893748 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*659C>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001158843] Chr8:76982602 [GRCh38]
Chr8:77894838 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*596G>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001158845] Chr8:76982665 [GRCh38]
Chr8:77894901 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*705T>A single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001158842] Chr8:76982556 [GRCh38]
Chr8:77894792 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*419T>G single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001160191] Chr8:76982842 [GRCh38]
Chr8:77895078 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.*2456C>T single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001161838] Chr8:76980805 [GRCh38]
Chr8:77893041 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001303379]|Zellweger spectrum disorders [RCV001830196] Chr8:76983718 [GRCh38]
Chr8:77895954 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.312C>G (p.Ile104Met) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001315053]|Zellweger spectrum disorders [RCV001830287] Chr8:76983867 [GRCh38]
Chr8:77896103 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.464dup (p.Leu155fs) duplication Peroxisome biogenesis disorder 5a (zellweger) [RCV001335250] Chr8:76983714..76983715 [GRCh38]
Chr8:77895950..77895951 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.92A>C (p.Gln31Pro) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001352374] Chr8:76984087 [GRCh38]
Chr8:77896323 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.571A>C (p.Met191Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001319059]|Zellweger spectrum disorders [RCV001830324] Chr8:76983608 [GRCh38]
Chr8:77895844 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.114T>G (p.Thr38=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001422742] Chr8:76984065 [GRCh38]
Chr8:77896301 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.357A>C (p.Arg119=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001392497] Chr8:76983822 [GRCh38]
Chr8:77896058 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.717C>T (p.Thr239=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001395099]|Zellweger spectrum disorders [RCV001836394] Chr8:76983462 [GRCh38]
Chr8:77895698 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.891C>T (p.Ile297=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001396818] Chr8:76983288 [GRCh38]
Chr8:77895524 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.348A>G (p.Leu116=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001433731] Chr8:76983831 [GRCh38]
Chr8:77896067 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.45A>G (p.Leu15=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001433788] Chr8:76984134 [GRCh38]
Chr8:77896370 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.915T>A (p.Leu305=) single nucleotide variant Zellweger spectrum disorders [RCV001279837] Chr8:76983264 [GRCh38]
Chr8:77895500 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.152G>A (p.Arg51His) single nucleotide variant Inborn genetic diseases [RCV002546149]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001325959]|Zellweger spectrum disorders [RCV001831012] Chr8:76984027 [GRCh38]
Chr8:77896263 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.23C>T (p.Ala8Val) single nucleotide variant Inborn genetic diseases [RCV003346534]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001373048]|Zellweger spectrum disorders [RCV001836379] Chr8:76984156 [GRCh38]
Chr8:77896392 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.76A>C (p.Asn26His) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001326251] Chr8:76984103 [GRCh38]
Chr8:77896339 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.466A>G (p.Ile156Val) single nucleotide variant Inborn genetic diseases [RCV003284201]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001325572]|Zellweger spectrum disorders [RCV001831006] Chr8:76983713 [GRCh38]
Chr8:77895949 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001359597]|Zellweger spectrum disorders [RCV001825996] Chr8:76983474 [GRCh38]
Chr8:77895710 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.506G>T (p.Arg169Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001367906] Chr8:76983673 [GRCh38]
Chr8:77895909 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.162A>G (p.Pro54=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001395167] Chr8:76984017 [GRCh38]
Chr8:77896253 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.399G>A (p.Gly133=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001458462] Chr8:76983780 [GRCh38]
Chr8:77896016 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.570C>T (p.Tyr190=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001473898] Chr8:76983609 [GRCh38]
Chr8:77895845 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.147A>G (p.Leu49=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001397724] Chr8:76984032 [GRCh38]
Chr8:77896268 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.174G>C (p.Ala58=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001434531] Chr8:76984005 [GRCh38]
Chr8:77896241 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.105C>T (p.Ser35=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001498574] Chr8:76984074 [GRCh38]
Chr8:77896310 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.798C>T (p.Phe266=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001444167] Chr8:76983381 [GRCh38]
Chr8:77895617 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.73C>T (p.Leu25=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001403096] Chr8:76984106 [GRCh38]
Chr8:77896342 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.882A>G (p.Lys294=) single nucleotide variant PEX2-related disorder [RCV003946154]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001442007] Chr8:76983297 [GRCh38]
Chr8:77895533 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.327T>C (p.Cys109=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001495097] Chr8:76983852 [GRCh38]
Chr8:77896088 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.54C>T (p.Ser18=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001450922] Chr8:76984125 [GRCh38]
Chr8:77896361 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.171A>G (p.Lys57=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001456131] Chr8:76984008 [GRCh38]
Chr8:77896244 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.402A>G (p.Lys134=) single nucleotide variant PEX2-related disorder [RCV003953743]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001405710] Chr8:76983777 [GRCh38]
Chr8:77896013 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.342G>A (p.Arg114=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001470415] Chr8:76983837 [GRCh38]
Chr8:77896073 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.855A>G (p.Thr285=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001453387] Chr8:76983324 [GRCh38]
Chr8:77895560 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001383604] Chr8:76984064 [GRCh38]
Chr8:77896300 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.79_80del (p.Lys27fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001385405] Chr8:76984099..76984100 [GRCh38]
Chr8:77896335..77896336 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.75A>G (p.Leu25=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001394171] Chr8:76984104 [GRCh38]
Chr8:77896340 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.607T>C (p.Phe203Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001868435]|not provided [RCV001754849] Chr8:76983572 [GRCh38]
Chr8:77895808 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.668G>A (p.Trp223Ter) single nucleotide variant not provided [RCV001784820] Chr8:76983511 [GRCh38]
Chr8:77895747 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.450G>T (p.Gly150=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002084544] Chr8:76983729 [GRCh38]
Chr8:77895965 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.618del (p.Leu207fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV002034605]|not provided [RCV001782603] Chr8:76983561 [GRCh38]
Chr8:77895797 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001882604]|not provided [RCV001814479] Chr8:76984033 [GRCh38]
Chr8:77896269 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.221C>G (p.Ala74Gly) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001915031] Chr8:76983958 [GRCh38]
Chr8:77896194 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.138_139insA (p.Gly47fs) insertion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001949611] Chr8:76984040..76984041 [GRCh38]
Chr8:77896276..77896277 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001950406] Chr8:76983793 [GRCh38]
Chr8:77896029 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.897G>A (p.Met299Ile) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002024745] Chr8:76983282 [GRCh38]
Chr8:77895518 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.205A>G (p.Ile69Val) single nucleotide variant Inborn genetic diseases [RCV002561394]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001949927] Chr8:76983974 [GRCh38]
Chr8:77896210 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.416_417del (p.Val139fs) microsatellite Peroxisome biogenesis disorder 5A (Zellweger) [RCV001863848] Chr8:76983762..76983763 [GRCh38]
Chr8:77895998..77895999 [GRCh37]
Chr8:8q21.13		 pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707) copy number loss not specified [RCV002053776] Chr8:77906471..88917707 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
NM_000318.3(PEX2):c.123T>A (p.Phe41Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002004325] Chr8:76984056 [GRCh38]
Chr8:77896292 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001908759] Chr8:76983608 [GRCh38]
Chr8:77895844 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.524del (p.Ser175fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001985225] Chr8:76983655 [GRCh38]
Chr8:77895891 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs) insertion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001982944] Chr8:76983628..76983629 [GRCh38]
Chr8:77895864..77895865 [GRCh37]
Chr8:8q21.13		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526) copy number loss not specified [RCV002053774] Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
NM_000318.3(PEX2):c.505C>G (p.Arg169Gly) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002043916] Chr8:76983674 [GRCh38]
Chr8:77895910 [GRCh37]
Chr8:8q21.13		 uncertain significance
NC_000008.10:g.(?_77895497)_(77896414_?)dup duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV001913733] Chr8:77895497..77896414 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV001970033] Chr8:76983782..76983783 [GRCh38]
Chr8:77896018..77896019 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.254A>T (p.Tyr85Phe) single nucleotide variant not specified [RCV001844484] Chr8:76983925 [GRCh38]
Chr8:77896161 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.226G>T (p.Val76Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001986635] Chr8:76983953 [GRCh38]
Chr8:77896189 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.11-21.13(chr8:75338205-80221568) copy number gain not specified [RCV002053775] Chr8:75338205..80221568 [GRCh37]
Chr8:8q21.11-21.13		 uncertain significance
NM_000318.3(PEX2):c.573G>C (p.Met191Ile) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001911953] Chr8:76983606 [GRCh38]
Chr8:77895842 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.784A>G (p.Ile262Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001967177] Chr8:76983395 [GRCh38]
Chr8:77895631 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001941162] Chr8:76984022 [GRCh38]
Chr8:77896258 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.657G>C (p.Lys219Asn) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001980463] Chr8:76983522 [GRCh38]
Chr8:77895758 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001962432] Chr8:76984169 [GRCh38]
Chr8:77896405 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.577A>G (p.Arg193Gly) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001903425] Chr8:76983602 [GRCh38]
Chr8:77895838 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.773G>A (p.Gly258Glu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001898111] Chr8:76983406 [GRCh38]
Chr8:77895642 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.368T>C (p.Leu123Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002047108] Chr8:76983811 [GRCh38]
Chr8:77896047 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.793_797del (p.Tyr265fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001935401] Chr8:76983382..76983386 [GRCh38]
Chr8:77895618..77895622 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.248T>C (p.Ile83Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002038242] Chr8:76983931 [GRCh38]
Chr8:77896167 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.181T>C (p.Trp61Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002036939] Chr8:76983998 [GRCh38]
Chr8:77896234 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.62A>G (p.Asp21Gly) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001886929] Chr8:76984117 [GRCh38]
Chr8:77896353 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.173C>T (p.Ala58Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001903020] Chr8:76984006 [GRCh38]
Chr8:77896242 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.659T>G (p.Leu220Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001923513] Chr8:76983520 [GRCh38]
Chr8:77895756 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.694A>G (p.Asn232Asp) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001957575] Chr8:76983485 [GRCh38]
Chr8:77895721 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs) insertion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001972849] Chr8:76983723..76983724 [GRCh38]
Chr8:77895959..77895960 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.628C>T (p.Leu210Phe) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001901135] Chr8:76983551 [GRCh38]
Chr8:77895787 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001879645] Chr8:76983904 [GRCh38]
Chr8:77896140 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.24_25del (p.Lys9fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV001975005] Chr8:76984154..76984155 [GRCh38]
Chr8:77896390..77896391 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.195G>T (p.Trp65Cys) single nucleotide variant Inborn genetic diseases [RCV004046800]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002029203] Chr8:76983984 [GRCh38]
Chr8:77896220 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.452T>C (p.Leu151Pro) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001954038] Chr8:76983727 [GRCh38]
Chr8:77895963 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.606A>T (p.Glu202Asp) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001867414] Chr8:76983573 [GRCh38]
Chr8:77895809 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.688G>A (p.Ala230Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001922552] Chr8:76983491 [GRCh38]
Chr8:77895727 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.257A>C (p.Lys86Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002033770] Chr8:76983922 [GRCh38]
Chr8:77896158 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.852C>T (p.Gly284=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001866286] Chr8:76983327 [GRCh38]
Chr8:77895563 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.881A>C (p.Lys294Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002049657] Chr8:76983298 [GRCh38]
Chr8:77895534 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.481G>A (p.Gly161Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002019955] Chr8:76983698 [GRCh38]
Chr8:77895934 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.206T>C (p.Ile69Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001915647] Chr8:76983973 [GRCh38]
Chr8:77896209 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.550_551delinsCT (p.Cys184Leu) indel Peroxisome biogenesis disorder 5A (Zellweger) [RCV002051165] Chr8:76983628..76983629 [GRCh38]
Chr8:77895864..77895865 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001960587] Chr8:76984088 [GRCh38]
Chr8:77896324 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.736C>G (p.Leu246Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001979222] Chr8:76983443 [GRCh38]
Chr8:77895679 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.729A>G (p.Glu243=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002014029] Chr8:76983450 [GRCh38]
Chr8:77895686 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.22G>T (p.Ala8Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001924373] Chr8:76984157 [GRCh38]
Chr8:77896393 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.377A>G (p.Asn126Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001883412] Chr8:76983802 [GRCh38]
Chr8:77896038 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.265T>A (p.Phe89Ile) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002035583] Chr8:76983914 [GRCh38]
Chr8:77896150 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.875C>T (p.Pro292Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002018996] Chr8:76983304 [GRCh38]
Chr8:77895540 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.703A>G (p.Asn235Asp) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001886084] Chr8:76983476 [GRCh38]
Chr8:77895712 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.412T>A (p.Cys138Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001931342] Chr8:76983767 [GRCh38]
Chr8:77896003 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu) single nucleotide variant Inborn genetic diseases [RCV002625363]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002015052]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002486583] Chr8:76983697 [GRCh38]
Chr8:77895933 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.320C>T (p.Ala107Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002026128] Chr8:76983859 [GRCh38]
Chr8:77896095 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.686G>A (p.Gly229Asp) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001957896] Chr8:76983493 [GRCh38]
Chr8:77895729 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.608T>G (p.Phe203Cys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001973963] Chr8:76983571 [GRCh38]
Chr8:77895807 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.794A>G (p.Tyr265Cys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002049110] Chr8:76983385 [GRCh38]
Chr8:77895621 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.335G>C (p.Gly112Ala) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001936175] Chr8:76983844 [GRCh38]
Chr8:77896080 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.635A>G (p.Asn212Ser) single nucleotide variant Inborn genetic diseases [RCV003289222]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV001930629] Chr8:76983544 [GRCh38]
Chr8:77895780 [GRCh37]
Chr8:8q21.13		 likely benign|uncertain significance
NM_000318.3(PEX2):c.220dup (p.Ala74fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV001953126] Chr8:76983958..76983959 [GRCh38]
Chr8:77896194..77896195 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.766A>G (p.Thr256Ala) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV001921899] Chr8:76983413 [GRCh38]
Chr8:77895649 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.361T>C (p.Tyr121His) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002011033] Chr8:76983818 [GRCh38]
Chr8:77896054 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.765C>T (p.His255=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002086708] Chr8:76983414 [GRCh38]
Chr8:77895650 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.351A>G (p.Glu117=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002209466] Chr8:76983828 [GRCh38]
Chr8:77896064 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.885A>G (p.Ser295=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002091573] Chr8:76983294 [GRCh38]
Chr8:77895530 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.393A>G (p.Ser131=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002130235] Chr8:76983786 [GRCh38]
Chr8:77896022 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.312C>A (p.Ile104=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002189188] Chr8:76983867 [GRCh38]
Chr8:77896103 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.222C>T (p.Ala74=) single nucleotide variant PEX2-related disorder [RCV003896049]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002186505] Chr8:76983957 [GRCh38]
Chr8:77896193 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.18G>A (p.Glu6=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002089344] Chr8:76984161 [GRCh38]
Chr8:77896397 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.436T>C (p.Leu146=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002125426] Chr8:76983743 [GRCh38]
Chr8:77895979 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.714C>T (p.Ala238=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002170703] Chr8:76983465 [GRCh38]
Chr8:77895701 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.198A>G (p.Arg66=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002173967] Chr8:76983981 [GRCh38]
Chr8:77896217 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.381T>C (p.His127=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002197532] Chr8:76983798 [GRCh38]
Chr8:77896034 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.108G>A (p.Gln36=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002113866] Chr8:76984071 [GRCh38]
Chr8:77896307 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.726A>G (p.Lys242=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002184890] Chr8:76983453 [GRCh38]
Chr8:77895689 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.912T>C (p.Ala304=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002128739] Chr8:76983267 [GRCh38]
Chr8:77895503 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.768C>T (p.Thr256=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002196751] Chr8:76983411 [GRCh38]
Chr8:77895647 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.868C>T (p.Leu290=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002150399] Chr8:76983311 [GRCh38]
Chr8:77895547 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.90G>A (p.Glu30=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002124118] Chr8:76984089 [GRCh38]
Chr8:77896325 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.621C>G (p.Leu207=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002122086] Chr8:76983558 [GRCh38]
Chr8:77895794 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.72A>G (p.Glu24=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002184402] Chr8:76984107 [GRCh38]
Chr8:77896343 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.162A>C (p.Pro54=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002099855] Chr8:76984017 [GRCh38]
Chr8:77896253 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.57G>A (p.Gln19=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002218055] Chr8:76984122 [GRCh38]
Chr8:77896358 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.678T>C (p.Pro226=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002143233] Chr8:76983501 [GRCh38]
Chr8:77895737 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.606A>G (p.Glu202=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002198268] Chr8:76983573 [GRCh38]
Chr8:77895809 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.252G>A (p.Lys84=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002176005] Chr8:76983927 [GRCh38]
Chr8:77896163 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.285T>C (p.Tyr95=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002155097] Chr8:76983894 [GRCh38]
Chr8:77896130 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.513A>G (p.Leu171=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002182031] Chr8:76983666 [GRCh38]
Chr8:77895902 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.738A>T (p.Leu246=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002124176] Chr8:76983441 [GRCh38]
Chr8:77895677 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.15A>G (p.Lys5=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002163399] Chr8:76984164 [GRCh38]
Chr8:77896400 [GRCh37]
Chr8:8q21.13		 likely benign
NC_000008.10:g.(?_77895497)_(77896414_?)del deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003111005] Chr8:77895497..77896414 [GRCh37]
Chr8:8q21.11		 pathogenic
NM_000318.3(PEX2):c.44T>C (p.Leu15Pro) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003115617] Chr8:76984135 [GRCh38]
Chr8:77896371 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.21T>C (p.Asn7=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003115621] Chr8:76984158 [GRCh38]
Chr8:77896394 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.600T>C (p.Phe200=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003115127] Chr8:76983579 [GRCh38]
Chr8:77895815 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.140G>A (p.Gly47Glu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003121244] Chr8:76984039 [GRCh38]
Chr8:77896275 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003121625] Chr8:76983508 [GRCh38]
Chr8:77895744 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1 copy number loss Chromosome 8q21.11 deletion syndrome [RCV002279750] Chr8:75904944..87097083 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
NM_000318.3(PEX2):c.*137C>G single nucleotide variant not provided [RCV002269418] Chr8:76983124 [GRCh38]
Chr8:77895360 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.325dup (p.Cys109fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV003096127]|Peroxisome biogenesis disorder [RCV002271943] Chr8:76983853..76983854 [GRCh38]
Chr8:77896089..77896090 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.320C>A (p.Ala107Asp) single nucleotide variant Peroxisome biogenesis disorder 5B [RCV002281608] Chr8:76983859 [GRCh38]
Chr8:77896095 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.604G>C (p.Glu202Gln) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002297309] Chr8:76983575 [GRCh38]
Chr8:77895811 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.11(chr8:77494853-78225721)x3 copy number gain not provided [RCV002473748] Chr8:77494853..78225721 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_000318.3(PEX2):c.494C>A (p.Thr165Asn) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002299749] Chr8:76983685 [GRCh38]
Chr8:77895921 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.298A>G (p.Lys100Glu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002299168] Chr8:76983881 [GRCh38]
Chr8:77896117 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.142C>G (p.Leu48Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002299181] Chr8:76984037 [GRCh38]
Chr8:77896273 [GRCh37]
Chr8:8q21.13		 uncertain significance
NC_000008.10:g.(?_77892493)_(77912525_?)del deletion Peroxisome biogenesis disorder [RCV002302461] Chr8:77892493..77912525 [GRCh37]
Chr8:8q21.11		 pathogenic
NM_000318.3(PEX2):c.410A>G (p.Gln137Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002301556] Chr8:76983769 [GRCh38]
Chr8:77896005 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.148G>T (p.Ala50Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002299180] Chr8:76984031 [GRCh38]
Chr8:77896267 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.82G>A (p.Ala28Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002681464] Chr8:76984097 [GRCh38]
Chr8:77896333 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.118del (p.Cys40fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV002727203] Chr8:76984061 [GRCh38]
Chr8:77896297 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.479G>A (p.Arg160Lys) single nucleotide variant Inborn genetic diseases [RCV002865861] Chr8:76983700 [GRCh38]
Chr8:77895936 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.594T>C (p.His198=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003017195] Chr8:76983585 [GRCh38]
Chr8:77895821 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.39_40del (p.Arg13fs) microsatellite Peroxisome biogenesis disorder 5A (Zellweger) [RCV002971495] Chr8:76984139..76984140 [GRCh38]
Chr8:77896375..77896376 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.101G>C (p.Trp34Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002996124] Chr8:76984078 [GRCh38]
Chr8:77896314 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.693T>A (p.Pro231=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002994361] Chr8:76983486 [GRCh38]
Chr8:77895722 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.911C>T (p.Ala304Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002994484] Chr8:76983268 [GRCh38]
Chr8:77895504 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.735T>C (p.Ala245=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002858161]|not provided [RCV004706440] Chr8:76983444 [GRCh38]
Chr8:77895680 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.159_160delinsAT (p.Pro54Ser) indel Peroxisome biogenesis disorder 5A (Zellweger) [RCV002904579] Chr8:76984019..76984020 [GRCh38]
Chr8:77896255..77896256 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.621C>T (p.Leu207=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002881449] Chr8:76983558 [GRCh38]
Chr8:77895794 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.809G>C (p.Ser270Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002726704] Chr8:76983370 [GRCh38]
Chr8:77895606 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.78C>G (p.Asn26Lys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002750162] Chr8:76984101 [GRCh38]
Chr8:77896337 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.453G>A (p.Leu151=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002863716] Chr8:76983726 [GRCh38]
Chr8:77895962 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.843T>C (p.Pro281=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002971293] Chr8:76983336 [GRCh38]
Chr8:77895572 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.715A>T (p.Thr239Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003039400] Chr8:76983464 [GRCh38]
Chr8:77895700 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.94C>T (p.Leu32=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002637289] Chr8:76984085 [GRCh38]
Chr8:77896321 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.506G>A (p.Arg169His) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002637925] Chr8:76983673 [GRCh38]
Chr8:77895909 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.16G>C (p.Glu6Gln) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003053183] Chr8:76984163 [GRCh38]
Chr8:77896399 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.854C>G (p.Thr285Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002844018] Chr8:76983325 [GRCh38]
Chr8:77895561 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.601G>A (p.Ala201Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002999067] Chr8:76983578 [GRCh38]
Chr8:77895814 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.708A>C (p.Thr236=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002923788] Chr8:76983471 [GRCh38]
Chr8:77895707 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.752C>G (p.Pro251Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003054334] Chr8:76983427 [GRCh38]
Chr8:77895663 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.511C>T (p.Leu171=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002926675] Chr8:76983668 [GRCh38]
Chr8:77895904 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.685G>C (p.Gly229Arg) single nucleotide variant Inborn genetic diseases [RCV004065243]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV003002035] Chr8:76983494 [GRCh38]
Chr8:77895730 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV002846860] Chr8:76983752..76983753 [GRCh38]
Chr8:77895988..77895989 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.429T>G (p.Ile143Met) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003018069] Chr8:76983750 [GRCh38]
Chr8:77895986 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.681T>C (p.Leu227=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002867101] Chr8:76983498 [GRCh38]
Chr8:77895734 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.657G>A (p.Lys219=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002927225] Chr8:76983522 [GRCh38]
Chr8:77895758 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.752C>T (p.Pro251Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003080275] Chr8:76983427 [GRCh38]
Chr8:77895663 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.344G>C (p.Trp115Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002761582] Chr8:76983835 [GRCh38]
Chr8:77896071 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.500C>T (p.Thr167Ile) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003043566] Chr8:76983679 [GRCh38]
Chr8:77895915 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.830A>G (p.Tyr277Cys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002790904] Chr8:76983349 [GRCh38]
Chr8:77895585 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.866G>A (p.Ser289Asn) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002668070] Chr8:76983313 [GRCh38]
Chr8:77895549 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.123T>C (p.Phe41=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002894855] Chr8:76984056 [GRCh38]
Chr8:77896292 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.5C>A (p.Ala2Asp) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002576154] Chr8:76984174 [GRCh38]
Chr8:77896410 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.437T>C (p.Leu146Ser) single nucleotide variant Inborn genetic diseases [RCV003269524]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002664026] Chr8:76983742 [GRCh38]
Chr8:77895978 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.238G>A (p.Val80Ile) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003083759] Chr8:76983941 [GRCh38]
Chr8:77896177 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.365A>T (p.Asp122Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003003330] Chr8:76983814 [GRCh38]
Chr8:77896050 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003039742] Chr8:76983823 [GRCh38]
Chr8:77896059 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr) single nucleotide variant Inborn genetic diseases [RCV002918701]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002931826]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV003331399] Chr8:76983547 [GRCh38]
Chr8:77895783 [GRCh37]
Chr8:8q21.13		 uncertain significance|not provided
NM_000318.3(PEX2):c.834T>C (p.Phe278=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002741669] Chr8:76983345 [GRCh38]
Chr8:77895581 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.278T>C (p.Leu93Pro) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003005403] Chr8:76983901 [GRCh38]
Chr8:77896137 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.555A>G (p.Glu185=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002624986] Chr8:76983624 [GRCh38]
Chr8:77895860 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.15dup (p.Glu6fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV002852036] Chr8:76984163..76984164 [GRCh38]
Chr8:77896399..77896400 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.718A>C (p.Ser240Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002852797] Chr8:76983461 [GRCh38]
Chr8:77895697 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.263A>G (p.Asp88Gly) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002932066] Chr8:76983916 [GRCh38]
Chr8:77896152 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002765690] Chr8:76983565 [GRCh38]
Chr8:77895801 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.221C>T (p.Ala74Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003039733] Chr8:76983958 [GRCh38]
Chr8:77896194 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003005592] Chr8:76984057 [GRCh38]
Chr8:77896293 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.63T>C (p.Asp21=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002624032] Chr8:76984116 [GRCh38]
Chr8:77896352 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.693T>G (p.Pro231=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002829470] Chr8:76983486 [GRCh38]
Chr8:77895722 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.234G>A (p.Gln78=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003025178] Chr8:76983945 [GRCh38]
Chr8:77896181 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.497T>G (p.Leu166Trp) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002721151] Chr8:76983682 [GRCh38]
Chr8:77895918 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.575A>G (p.Asn192Ser) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002602546] Chr8:76983604 [GRCh38]
Chr8:77895840 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.673A>G (p.Ile225Val) single nucleotide variant Inborn genetic diseases [RCV004961137]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002628709] Chr8:76983506 [GRCh38]
Chr8:77895742 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.231A>G (p.Gly77=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002630221] Chr8:76983948 [GRCh38]
Chr8:77896184 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.757A>G (p.Met253Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002581866] Chr8:76983422 [GRCh38]
Chr8:77895658 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.708A>G (p.Thr236=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002578614] Chr8:76983471 [GRCh38]
Chr8:77895707 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.24G>T (p.Ala8=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002939006] Chr8:76984155 [GRCh38]
Chr8:77896391 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.639C>T (p.Val213=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003009539] Chr8:76983540 [GRCh38]
Chr8:77895776 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.45A>C (p.Leu15=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002988688] Chr8:76984134 [GRCh38]
Chr8:77896370 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.495T>C (p.Thr165=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002578899] Chr8:76983684 [GRCh38]
Chr8:77895920 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.488T>G (p.Phe163Cys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003060787] Chr8:76983691 [GRCh38]
Chr8:77895927 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.373C>G (p.Arg125Gly) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003010164] Chr8:76983806 [GRCh38]
Chr8:77896042 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003046683] Chr8:76983704 [GRCh38]
Chr8:77895940 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.737T>C (p.Leu246Pro) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003086292] Chr8:76983442 [GRCh38]
Chr8:77895678 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.268T>A (p.Ser90Thr) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003061517] Chr8:76983911 [GRCh38]
Chr8:77896147 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.526G>A (p.Val176Ile) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003026301] Chr8:76983653 [GRCh38]
Chr8:77895889 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.864C>T (p.His288=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002857610] Chr8:76983315 [GRCh38]
Chr8:77895551 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.584T>C (p.Leu195Pro) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003089513] Chr8:76983595 [GRCh38]
Chr8:77895831 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.505C>T (p.Arg169Cys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003061445] Chr8:76983674 [GRCh38]
Chr8:77895910 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.884C>T (p.Ser295Leu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003009300] Chr8:76983295 [GRCh38]
Chr8:77895531 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.207C>A (p.Ile69=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002966093] Chr8:76983972 [GRCh38]
Chr8:77896208 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.109T>A (p.Phe37Ile) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003046010] Chr8:76984070 [GRCh38]
Chr8:77896306 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.280A>G (p.Arg94Gly) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002649567] Chr8:76983899 [GRCh38]
Chr8:77896135 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.247A>G (p.Ile83Val) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002966667] Chr8:76983932 [GRCh38]
Chr8:77896168 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.631A>C (p.Ile211Leu) single nucleotide variant Inborn genetic diseases [RCV002935110] Chr8:76983548 [GRCh38]
Chr8:77895784 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.12A>G (p.Arg4=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003029713] Chr8:76984167 [GRCh38]
Chr8:77896403 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003087553]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV005045264] Chr8:76983865 [GRCh38]
Chr8:77896101 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.610_611del (p.Leu204fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003048592] Chr8:76983568..76983569 [GRCh38]
Chr8:77895804..77895805 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.362A>G (p.Tyr121Cys) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002938440] Chr8:76983817 [GRCh38]
Chr8:77896053 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.190T>A (p.Leu64Met) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002605144] Chr8:76983989 [GRCh38]
Chr8:77896225 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.831C>T (p.Tyr277=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003049562] Chr8:76983348 [GRCh38]
Chr8:77895584 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.500C>G (p.Thr167Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002605548] Chr8:76983679 [GRCh38]
Chr8:77895915 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.126T>C (p.His42=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002605882] Chr8:76984053 [GRCh38]
Chr8:77896289 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.369G>A (p.Leu123=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002608729] Chr8:76983810 [GRCh38]
Chr8:77896046 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.201C>T (p.Phe67=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002610813] Chr8:76983978 [GRCh38]
Chr8:77896214 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.143T>C (p.Leu48Pro) single nucleotide variant Inborn genetic diseases [RCV004661599]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV002654635] Chr8:76984036 [GRCh38]
Chr8:77896272 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.32C>A (p.Ala11Glu) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV002606602] Chr8:76984147 [GRCh38]
Chr8:77896383 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.811A>G (p.Ser271Gly) single nucleotide variant Inborn genetic diseases [RCV003209009] Chr8:76983368 [GRCh38]
Chr8:77895604 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.596G>A (p.Gly199Asp) single nucleotide variant not provided [RCV003134796] Chr8:76983583 [GRCh38]
Chr8:77895819 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.395_396del (p.Phe132fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476803] Chr8:76983783..76983784 [GRCh38]
Chr8:77896019..77896020 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter) indel Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476808] Chr8:76983348 [GRCh38]
Chr8:77895584 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.188dup (p.Trp65fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476813] Chr8:76983990..76983991 [GRCh38]
Chr8:77896226..77896227 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.310del (p.Ile104fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476814] Chr8:76983869 [GRCh38]
Chr8:77896105 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.197_198del (p.Arg66fs) microsatellite Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476811] Chr8:76983981..76983982 [GRCh38]
Chr8:77896217..77896218 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476802] Chr8:76983502..76983503 [GRCh38]
Chr8:77895738..77895739 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.260del (p.Asn87fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476812] Chr8:76983919 [GRCh38]
Chr8:77896155 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.113del (p.Thr38fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003873407] Chr8:76984066 [GRCh38]
Chr8:77896302 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs) indel Peroxisome biogenesis disorder [RCV003486513] Chr8:76984100..76984102 [GRCh38]
Chr8:77896336..77896338 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs) indel Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476805] Chr8:76983629 [GRCh38]
Chr8:77895865 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476806] Chr8:76983996 [GRCh38]
Chr8:77896232 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.521_524del (p.His174fs) microsatellite Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476810]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV005047602] Chr8:76983655..76983658 [GRCh38]
Chr8:77895891..77895894 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.253dup (p.Tyr85fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476801] Chr8:76983925..76983926 [GRCh38]
Chr8:77896161..77896162 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.791_795del (p.Cys264fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476804] Chr8:76983384..76983388 [GRCh38]
Chr8:77895620..77895624 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.233dup (p.Ser79fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476807] Chr8:76983945..76983946 [GRCh38]
Chr8:77896181..77896182 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter) insertion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003476809] Chr8:76983371..76983372 [GRCh38]
Chr8:77895607..77895608 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.192G>A (p.Leu64=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003652833] Chr8:76983987 [GRCh38]
Chr8:77896223 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003653837] Chr8:76983894 [GRCh38]
Chr8:77896130 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.111T>C (p.Phe37=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003649590] Chr8:76984068 [GRCh38]
Chr8:77896304 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.603T>C (p.Ala201=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003653899] Chr8:76983576 [GRCh38]
Chr8:77895812 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.567A>G (p.Glu189=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003649903] Chr8:76983612 [GRCh38]
Chr8:77895848 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.43C>T (p.Leu15=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003649577] Chr8:76984136 [GRCh38]
Chr8:77896372 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.405C>A (p.Val135=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003649767] Chr8:76983774 [GRCh38]
Chr8:77896010 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.142C>T (p.Leu48=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003649845] Chr8:76984037 [GRCh38]
Chr8:77896273 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.495T>A (p.Thr165=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003651146] Chr8:76983684 [GRCh38]
Chr8:77895920 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.465G>A (p.Leu155=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003651150] Chr8:76983714 [GRCh38]
Chr8:77895950 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.470del (p.Phe157fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003652316] Chr8:76983709 [GRCh38]
Chr8:77895945 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.6T>C (p.Ala2=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003652349] Chr8:76984173 [GRCh38]
Chr8:77896409 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.489T>C (p.Phe163=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003649777] Chr8:76983690 [GRCh38]
Chr8:77895926 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.190T>C (p.Leu64=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003651294] Chr8:76983989 [GRCh38]
Chr8:77896225 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.858A>G (p.Glu286=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003651027] Chr8:76983321 [GRCh38]
Chr8:77895557 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.627A>G (p.Pro209=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003649572] Chr8:76983552 [GRCh38]
Chr8:77895788 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.320_326del (p.Ala107fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003649622] Chr8:76983853..76983859 [GRCh38]
Chr8:77896089..77896095 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.756C>T (p.Thr252=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003652486] Chr8:76983423 [GRCh38]
Chr8:77895659 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.429T>A (p.Ile143=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003652568] Chr8:76983750 [GRCh38]
Chr8:77895986 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.144G>T (p.Leu48=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003535554] Chr8:76984035 [GRCh38]
Chr8:77896271 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.828G>A (p.Val276=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003535504] Chr8:76983351 [GRCh38]
Chr8:77895587 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV003536146] Chr8:76983906..76983907 [GRCh38]
Chr8:77896142..77896143 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.69T>G (p.Leu23=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003537914] Chr8:76984110 [GRCh38]
Chr8:77896346 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.369del (p.Leu123fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV003535035] Chr8:76983810 [GRCh38]
Chr8:77896046 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.507T>A (p.Arg169=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003538268] Chr8:76983672 [GRCh38]
Chr8:77895908 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.375A>G (p.Arg125=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003537589] Chr8:76983804 [GRCh38]
Chr8:77896040 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003538340] Chr8:76983861 [GRCh38]
Chr8:77896097 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.585T>C (p.Leu195=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003538341] Chr8:76983594 [GRCh38]
Chr8:77895830 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.384T>C (p.His128=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003536458] Chr8:76983795 [GRCh38]
Chr8:77896031 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.693T>C (p.Pro231=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003538046] Chr8:76983486 [GRCh38]
Chr8:77895722 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.891C>G (p.Ile297Met) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003538172] Chr8:76983288 [GRCh38]
Chr8:77895524 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003535181] Chr8:76983677 [GRCh38]
Chr8:77895913 [GRCh37]
Chr8:8q21.13		 pathogenic|likely pathogenic
NM_000318.3(PEX2):c.324T>A (p.Val108=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV003536346] Chr8:76983855 [GRCh38]
Chr8:77896091 [GRCh37]
Chr8:8q21.13		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000318.3(PEX2):c.-10C>T single nucleotide variant PEX2-related disorder [RCV003909507] Chr8:76984188 [GRCh38]
Chr8:77896424 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.338G>A (p.Gly113Asp) single nucleotide variant PEX2-related disorder [RCV003899068] Chr8:76983841 [GRCh38]
Chr8:77896077 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.306A>T (p.Gln102His) single nucleotide variant Inborn genetic diseases [RCV004498374] Chr8:76983873 [GRCh38]
Chr8:77896109 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.602C>T (p.Ala201Val) single nucleotide variant Inborn genetic diseases [RCV004498375] Chr8:76983577 [GRCh38]
Chr8:77895813 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.488_489del (p.Phe163fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV004574508] Chr8:76983690..76983691 [GRCh38]
Chr8:77895926..77895927 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.485A>C (p.Lys162Thr) single nucleotide variant Inborn genetic diseases [RCV004655734] Chr8:76983694 [GRCh38]
Chr8:77895930 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.104C>G (p.Ser35Cys) single nucleotide variant Inborn genetic diseases [RCV004655735] Chr8:76984075 [GRCh38]
Chr8:77896311 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.850G>A (p.Gly284Ser) single nucleotide variant Inborn genetic diseases [RCV004655736] Chr8:76983329 [GRCh38]
Chr8:77895565 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.640C>T (p.Gln214Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV004574505] Chr8:76983539 [GRCh38]
Chr8:77895775 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.732C>A (p.Cys244Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV004574507] Chr8:76983447 [GRCh38]
Chr8:77895683 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.171del (p.Ala58fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV004574506]|Peroxisome biogenesis disorder 5A (Zellweger) [RCV005040696] Chr8:76984008 [GRCh38]
Chr8:77896244 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.637G>C (p.Val213Leu) single nucleotide variant PEX2-related disorder [RCV004731477] Chr8:76983542 [GRCh38]
Chr8:77895778 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.862C>T (p.His288Tyr) single nucleotide variant Inborn genetic diseases [RCV004959478] Chr8:76983317 [GRCh38]
Chr8:77895553 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.570C>A (p.Tyr190Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV005041420] Chr8:76983609 [GRCh38]
Chr8:77895845 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.550_551inv (p.Cys184His) inversion Peroxisome biogenesis disorder 5A (Zellweger) [RCV005041421] Chr8:76983628..76983629 [GRCh38]
Chr8:77895864..77895865 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.737dup (p.Cys247fs) duplication Peroxisome biogenesis disorder 5A (Zellweger) [RCV005051695] Chr8:76983441..76983442 [GRCh38]
Chr8:77895677..77895678 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.641A>G (p.Gln214Arg) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV005187538] Chr8:76983538 [GRCh38]
Chr8:77895774 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_000318.3(PEX2):c.18_19del (p.Asn7fs) microsatellite Peroxisome biogenesis disorder 5A (Zellweger) [RCV005204761] Chr8:76984160..76984161 [GRCh38]
Chr8:77896396..77896397 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.633C>T (p.Ile211=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV005183145] Chr8:76983546 [GRCh38]
Chr8:77895782 [GRCh37]
Chr8:8q21.13		 likely benign
NM_000318.3(PEX2):c.642del (p.Lys215fs) deletion Peroxisome biogenesis disorder 5A (Zellweger) [RCV005234906] Chr8:76983537 [GRCh38]
Chr8:77895773 [GRCh37]
Chr8:8q21.13		 likely pathogenic
NM_000318.3(PEX2):c.37A>T (p.Arg13Ter) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV005117725] Chr8:76984142 [GRCh38]
Chr8:77896378 [GRCh37]
Chr8:8q21.13		 pathogenic
NM_000318.3(PEX2):c.339C>T (p.Gly113=) single nucleotide variant Peroxisome biogenesis disorder 5A (Zellweger) [RCV005203724] Chr8:76983840 [GRCh38]
Chr8:77896076 [GRCh37]
Chr8:8q21.13		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2787
Count of miRNA genes:869
Interacting mature miRNAs:990
Transcripts:ENST00000357039, ENST00000419564, ENST00000518986, ENST00000519956, ENST00000520103, ENST00000520203, ENST00000522527
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
597211190GWAS1307264_Hprotein measurement QTL GWAS1307264 (human)2e-08protein measurement87698343176983432Human

Markers in Region
RH46966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,893,828 - 77,893,982UniSTSGRCh37
Build 36878,056,383 - 78,056,537RGDNCBI36
Celera873,887,204 - 73,887,358RGD
Cytogenetic Map8q21.1UniSTS
HuRef873,380,298 - 73,380,452UniSTS
GeneMap99-GB4 RH Map8398.44UniSTS
WI-17451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,893,751 - 77,893,852UniSTSGRCh37
Build 36878,056,306 - 78,056,407RGDNCBI36
Celera873,887,127 - 73,887,228RGD
Cytogenetic Map8q21.1UniSTS
HuRef873,380,221 - 73,380,322UniSTS
GeneMap99-GB4 RH Map8397.09UniSTS
Whitehead-RH Map8484.4UniSTS
STS-R88992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,894,370 - 77,894,565UniSTSGRCh37
Build 36878,056,925 - 78,057,120RGDNCBI36
Celera873,887,746 - 73,887,941RGD
Cytogenetic Map8q21.1UniSTS
HuRef873,380,840 - 73,381,035UniSTS
GeneMap99-GB4 RH Map8397.2UniSTS
STS-M85038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,895,343 - 77,895,497UniSTSGRCh37
Build 36878,057,898 - 78,058,052RGDNCBI36
Celera873,888,719 - 73,888,873RGD
Cytogenetic Map8q21.1UniSTS
HuRef873,381,813 - 73,381,967UniSTS
GeneMap99-GB4 RH Map8366.64UniSTS
STS-H95082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,911,343 - 77,911,489UniSTSGRCh37
Build 36878,073,898 - 78,074,044RGDNCBI36
Celera873,904,724 - 73,904,870RGD
Cytogenetic Map8q21.1UniSTS
HuRef873,397,818 - 73,397,964UniSTS
GeneMap99-GB4 RH Map8397.2UniSTS
PXMP3_3423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37877,895,126 - 77,895,916UniSTSGRCh37
Build 36878,057,681 - 78,058,471RGDNCBI36
Celera873,888,502 - 73,889,292RGD
HuRef873,381,596 - 73,382,386UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
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Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 5 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP193912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU561273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX093361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA210382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M85038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000357039   ⟹   ENSP00000349543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,980,258 - 77,000,078 (-)Ensembl
Ensembl Acc Id: ENST00000518986   ⟹   ENSP00000429304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,983,640 - 76,986,527 (-)Ensembl
Ensembl Acc Id: ENST00000519956   ⟹   ENSP00000429740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,984,170 - 77,001,044 (-)Ensembl
Ensembl Acc Id: ENST00000520103   ⟹   ENSP00000428590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,982,934 - 77,000,947 (-)Ensembl
Ensembl Acc Id: ENST00000520203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,987,892 - 77,000,230 (-)Ensembl
Ensembl Acc Id: ENST00000522527   ⟹   ENSP00000428638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl876,982,957 - 77,000,267 (-)Ensembl
RefSeq Acc Id: NM_000318   ⟹   NP_000309
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38876,980,258 - 77,000,078 (-)NCBI
GRCh37877,892,494 - 77,913,280 (-)ENTREZGENE
Build 36878,055,049 - 78,075,079 (-)NCBI Archive
HuRef873,378,964 - 73,399,755 (-)ENTREZGENE
CHM1_1877,944,088 - 77,964,124 (-)NCBI
T2T-CHM13v2.0877,409,691 - 77,429,517 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001079867   ⟹   NP_001073336
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38876,980,258 - 77,000,078 (-)NCBI
GRCh37877,892,494 - 77,913,280 (-)ENTREZGENE
Build 36878,055,049 - 78,075,079 (-)NCBI Archive
HuRef873,378,964 - 73,399,755 (-)ENTREZGENE
CHM1_1877,944,088 - 77,964,124 (-)NCBI
T2T-CHM13v2.0877,409,691 - 77,429,517 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172086   ⟹   NP_001165557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38876,980,258 - 77,001,044 (-)NCBI
GRCh37877,892,494 - 77,913,280 (-)ENTREZGENE
HuRef873,378,964 - 73,399,755 (-)ENTREZGENE
CHM1_1877,944,088 - 77,964,880 (-)NCBI
T2T-CHM13v2.0877,409,691 - 77,430,483 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172087   ⟹   NP_001165558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38876,980,258 - 77,001,044 (-)NCBI
GRCh37877,892,494 - 77,913,280 (-)ENTREZGENE
HuRef873,378,964 - 73,399,755 (-)ENTREZGENE
CHM1_1877,944,088 - 77,964,880 (-)NCBI
T2T-CHM13v2.0877,409,691 - 77,430,483 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001165558   ⟸   NM_001172087
- UniProtKB: Q567S6 (UniProtKB/Swiss-Prot),   P28328 (UniProtKB/Swiss-Prot),   Q9BW41 (UniProtKB/Swiss-Prot),   B2R7I6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165557   ⟸   NM_001172086
- UniProtKB: Q567S6 (UniProtKB/Swiss-Prot),   P28328 (UniProtKB/Swiss-Prot),   Q9BW41 (UniProtKB/Swiss-Prot),   B2R7I6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001073336   ⟸   NM_001079867
- UniProtKB: Q567S6 (UniProtKB/Swiss-Prot),   P28328 (UniProtKB/Swiss-Prot),   Q9BW41 (UniProtKB/Swiss-Prot),   B2R7I6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000309   ⟸   NM_000318
- UniProtKB: Q567S6 (UniProtKB/Swiss-Prot),   P28328 (UniProtKB/Swiss-Prot),   Q9BW41 (UniProtKB/Swiss-Prot),   B2R7I6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000429304   ⟸   ENST00000518986
Ensembl Acc Id: ENSP00000429740   ⟸   ENST00000519956
Ensembl Acc Id: ENSP00000428590   ⟸   ENST00000520103
Ensembl Acc Id: ENSP00000428638   ⟸   ENST00000522527
Ensembl Acc Id: ENSP00000349543   ⟸   ENST00000357039
Protein Domains
Pex N-terminal   RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28328-F1-model_v2 AlphaFold P28328 1-305 view protein structure

Promoters
RGD ID:7213579
Promoter ID:EPDNEW_H12535
Type:initiation region
Name:PEX2_1
Description:peroxisomal biogenesis factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38877,000,078 - 77,000,138EPDNEW
RGD ID:6806989
Promoter ID:HG_KWN:61558
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010LZM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36878,058,061 - 78,059,012 (-)MPROMDB
RGD ID:6807007
Promoter ID:HG_KWN:61559
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000318,   NM_001079867,   UC003YAZ.1,   UC010LZN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36878,074,066 - 78,075,247 (-)MPROMDB
RGD ID:6850762
Promoter ID:EP73175
Type:initiation region
Name:HS_PXMP3
Description:Peroxisomal membrane protein 3, 35kDa (Zellweger syndrome).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36878,074,906 - 78,074,966EPD
RGD ID:6806990
Promoter ID:HG_KWN:61560
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001172086,   NM_001172087
Position:
Human AssemblyChrPosition (strand)Source
Build 36878,075,686 - 78,076,512 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9717 AgrOrtholog
COSMIC PEX2 COSMIC
Ensembl Genes ENSG00000164751 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000357039 ENTREZGENE
  ENST00000357039.9 UniProtKB/Swiss-Prot
  ENST00000520103 ENTREZGENE
  ENST00000520103.5 UniProtKB/Swiss-Prot
  ENST00000522527 ENTREZGENE
  ENST00000522527.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000164751 GTEx
HGNC ID HGNC:9717 ENTREZGENE
Human Proteome Map PEX2 Human Proteome Map
InterPro PEX2/10 UniProtKB/Swiss-Prot
  Pex_N UniProtKB/Swiss-Prot
  RING-HC_PEX2 UniProtKB/Swiss-Prot
  Znf_RING UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot
  Znf_RING_CS UniProtKB/Swiss-Prot
KEGG Report hsa:5828 UniProtKB/Swiss-Prot
NCBI Gene 5828 ENTREZGENE
OMIM 170993 OMIM
PANTHER PEROXISOME BIOGENESIS FACTOR 2 UniProtKB/Swiss-Prot
  PEROXISOME BIOGENESIS FACTOR 2 UniProtKB/Swiss-Prot
Pfam Pex2_Pex12 UniProtKB/Swiss-Prot
PharmGKB PA34060 PharmGKB
PROSITE ZF_RING_1 UniProtKB/Swiss-Prot
  ZF_RING_2 UniProtKB/Swiss-Prot
SMART RING UniProtKB/Swiss-Prot
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot
UniProt B2R7I6 ENTREZGENE, UniProtKB/TrEMBL
  E5RIW9_HUMAN UniProtKB/TrEMBL
  P28328 ENTREZGENE, UniProtKB/Swiss-Prot
  Q567S6 ENTREZGENE
  Q9BW41 ENTREZGENE
UniProt Secondary Q567S6 UniProtKB/Swiss-Prot
  Q9BW41 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 PEX2  peroxisomal biogenesis factor 2  PXMP3  peroxisomal membrane protein 3, 35kDa  Symbol and/or name change 5135510 APPROVED