PEX16 (peroxisomal biogenesis factor 16) - Rat Genome Database

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Gene: PEX16 (peroxisomal biogenesis factor 16) Homo sapiens
Analyze
Symbol: PEX16
Name: peroxisomal biogenesis factor 16
RGD ID: 1322796
HGNC Page HGNC:8857
Description: Involved in peroxisome organization and protein to membrane docking. Acts upstream of or within protein import into peroxisome matrix. Located in endoplasmic reticulum membrane and peroxisomal membrane. Implicated in peroxisomal biogenesis disorder and peroxisome biogenesis disorder 8A.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PBD8A; PBD8B; peroxin 16; peroxin-16; peroxisomal membrane protein PEX16; peroxisome biogenesis factor 16
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,909,663 - 45,918,822 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,909,663 - 45,918,812 (-)EnsemblGRCh38hg38GRCh38
GRCh371145,931,214 - 45,939,428 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,887,796 - 45,896,182 (-)NCBINCBI36Build 36hg18NCBI36
Build 341145,887,796 - 45,896,182NCBI
Celera1146,078,825 - 46,087,276 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1145,638,073 - 45,646,496 (-)NCBIHuRef
CHM1_11145,928,639 - 45,937,093 (-)NCBICHM1_1
T2T-CHM13v2.01146,065,593 - 46,074,744 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
endoplasmic reticulum  (IDA)
endoplasmic reticulum membrane  (IDA)
membrane  (HDA,IEA)
peroxisomal membrane  (HDA,IBA,IDA,IEA,IMP,ISO,TAS)
peroxisome  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal chorioretinal morphology  (IAGP)
Abnormal epiphysis 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)
Ankle clonus  (IAGP)
Anteverted nares  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Brain atrophy  (IAGP)
Brisk reflexes  (IAGP)
Brushfield spots  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Childhood onset  (IAGP)
Clitoral hypertrophy  (IAGP)
Clonus  (IAGP)
Cognitive impairment  (IAGP)
Constipation  (IAGP)
Constriction of peripheral visual field  (IAGP)
Corneal opacity  (IAGP)
Corpus callosum atrophy  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Decreased liver function  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Dolichocephaly  (IAGP)
Dysarthria  (IAGP)
Dysesthesia  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating phytanic acid concentration  (IAGP)
Epicanthus  (IAGP)
Epiphyseal stippling  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat face  (IAGP)
Flat occiput  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized neonatal hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Glossoptosis  (IAGP)
Hearing impairment  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Horizontal nystagmus  (IAGP)
Hydronephrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Jaundice  (IAGP)
Leukodystrophy  (IAGP)
Limb tremor  (IAGP)
Loss of ambulation  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lower limb spasticity  (IAGP)
Macrocephaly  (IAGP)
Malabsorption  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Neonatal hypotonia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Polymicrogyria  (IAGP)
Posterior embryotoxon  (IAGP)
Premature birth  (IAGP)
Primary adrenal insufficiency  (IAGP)
Profound global developmental delay  (IAGP)
Progressive  (IAGP)
Progressive muscle weakness  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal dystrophy  (IAGP)
Rigidity  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Tip-toe gait  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Unsteady gait  (IAGP)
Upslanted palpebral fissure  (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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9837814   PMID:9922452   PMID:10704444   PMID:11390669   PMID:11890679   PMID:12096124   PMID:12223482   PMID:12477932   PMID:14709540   PMID:15146197   PMID:15489334   PMID:15713480  
PMID:15813749   PMID:16280322   PMID:16341674   PMID:16717127   PMID:17207965   PMID:19114594   PMID:19479899   PMID:19946888   PMID:20301621   PMID:20531392   PMID:20647552   PMID:21145461  
PMID:21525035   PMID:21768384   PMID:21873635   PMID:24144296   PMID:24501781   PMID:25002403   PMID:25416956   PMID:26186194   PMID:26264872   PMID:28298427   PMID:28514442   PMID:28712289  
PMID:29180619   PMID:29997244   PMID:30232004   PMID:31091453   PMID:31467278   PMID:32296183   PMID:32814053   PMID:33961781   PMID:34079125   PMID:34360754   PMID:36949045  


Genomics

Comparative Map Data
PEX16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,909,663 - 45,918,822 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,909,663 - 45,918,812 (-)EnsemblGRCh38hg38GRCh38
GRCh371145,931,214 - 45,939,428 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,887,796 - 45,896,182 (-)NCBINCBI36Build 36hg18NCBI36
Build 341145,887,796 - 45,896,182NCBI
Celera1146,078,825 - 46,087,276 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1145,638,073 - 45,646,496 (-)NCBIHuRef
CHM1_11145,928,639 - 45,937,093 (-)NCBICHM1_1
T2T-CHM13v2.01146,065,593 - 46,074,744 (-)NCBIT2T-CHM13v2.0
Pex16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39292,205,043 - 92,211,563 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl292,205,021 - 92,211,562 (+)EnsemblGRCm39 Ensembl
GRCm38292,374,676 - 92,381,220 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl292,374,676 - 92,381,217 (+)EnsemblGRCm38mm10GRCm38
MGSCv37292,214,833 - 92,221,377 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36292,176,337 - 92,182,056 (+)NCBIMGSCv36mm8
Celera293,767,804 - 93,774,348 (+)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.98NCBI
Pex16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8398,800,357 - 98,808,091 (+)NCBIGRCr8
mRatBN7.2378,347,212 - 78,352,603 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl378,343,164 - 78,353,207 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx381,823,035 - 81,828,381 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0390,422,076 - 90,427,422 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0388,273,171 - 88,278,517 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0381,283,137 - 81,292,575 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl381,283,137 - 81,292,573 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0387,986,605 - 87,996,042 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,769,618 - 76,779,051 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1376,666,045 - 76,675,478 (+)NCBI
Celera377,545,160 - 77,554,593 (+)NCBICelera
Cytogenetic Map3q24NCBI
Pex16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554222,055,446 - 2,061,729 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554222,054,867 - 2,060,871 (+)NCBIChiLan1.0ChiLan1.0
PEX16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2948,118,114 - 48,127,750 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,125,265 - 48,134,598 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01145,864,220 - 45,872,263 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11146,355,950 - 46,364,552 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1146,355,950 - 46,364,543 (-)Ensemblpanpan1.1panPan2
PEX16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11843,506,531 - 43,513,735 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1843,507,193 - 43,516,235 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1842,234,570 - 42,241,718 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01844,162,508 - 44,169,656 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1844,163,163 - 44,169,650 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11843,646,760 - 43,653,908 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01843,199,709 - 43,206,857 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,931,997 - 43,939,145 (+)NCBIUU_Cfam_GSD_1.0
Pex16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494720,991,610 - 20,998,245 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365623,103,349 - 3,109,887 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365623,103,332 - 3,109,884 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PEX16
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl216,555,051 - 16,561,685 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1216,555,045 - 16,560,777 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,952,994 - 17,958,743 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PEX16
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1119,424,155 - 19,432,430 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl119,423,581 - 19,431,948 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038116,700,492 - 116,709,316 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pex16
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247672,594,428 - 2,600,191 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247672,589,320 - 2,600,312 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PEX16
550 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004813.4(PEX16):c.984del (p.Ile330fs) deletion Peroxisome biogenesis disorder 8B [RCV000023293] Chr11:45910281 [GRCh38]
Chr11:45931832 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys) single nucleotide variant Peroxisome biogenesis disorder 8B [RCV000023295] Chr11:45910273 [GRCh38]
Chr11:45931824 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.952+118_*82del deletion Peroxisome biogenesis disorder 8B [RCV000023297] Chr11:45910172..45910780 [GRCh38]
Chr11:45931723..45932331 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000006837]|Peroxisome biogenesis disorder [RCV001851705]|not provided [RCV000431832] Chr11:45914619 [GRCh38]
Chr11:45936170 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.952+2T>C single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000006839] Chr11:45910896 [GRCh38]
Chr11:45932447 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.885C>T (p.Ser295=) single nucleotide variant PEX16-related condition [RCV003918199]|Peroxisome biogenesis disorder [RCV001427814]|not provided [RCV000729713] Chr11:45913821 [GRCh38]
Chr11:45935372 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.632C>T (p.Thr211Ile) single nucleotide variant not provided [RCV000728457] Chr11:45914378 [GRCh38]
Chr11:45935929 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.996C>T (p.Phe332=) single nucleotide variant Peroxisome biogenesis disorder [RCV002060971]|not provided [RCV000728714] Chr11:45910269 [GRCh38]
Chr11:45931820 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.103C>G (p.Leu35Val) single nucleotide variant Peroxisome biogenesis disorder [RCV001302650] Chr11:45917709 [GRCh38]
Chr11:45939260 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 copy number loss See cases [RCV000052681] Chr11:44136593..46121139 [GRCh38]
Chr11:44158143..46142690 [GRCh37]
Chr11:44114719..46099266 [NCBI36]
Chr11:11p11.2		 pathogenic
NM_057174.2(PEX16):c.575C>T (p.Pro192Leu) single nucleotide variant Malignant melanoma [RCV000062219] Chr11:45914435 [GRCh38]
Chr11:45935986 [GRCh37]
Chr11:45892562 [NCBI36]
Chr11:11p11.2		 not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12		 likely pathogenic
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 copy number loss See cases [RCV000142289] Chr11:42553659..46114792 [GRCh38]
Chr11:42575209..46136343 [GRCh37]
Chr11:42531785..46092919 [NCBI36]
Chr11:11p12-11.2		 pathogenic
NM_004813.4(PEX16):c.543G>A (p.Thr181=) single nucleotide variant Peroxisome biogenesis disorder [RCV001088669]|not provided [RCV000179897] Chr11:45914467 [GRCh38]
Chr11:45936018 [GRCh37]
Chr11:11p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004813.4(PEX16):c.695-6C>T single nucleotide variant Inborn genetic diseases [RCV002516814]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV000763741]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001105494]|Peroxisome biogenesis disorder [RCV001455520]|not provided [RCV000180266] Chr11:45914209 [GRCh38]
Chr11:45935760 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) single nucleotide variant PEX16-related condition [RCV003955053]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV000358606]|Peroxisome biogenesis disorder [RCV001079444]|not provided [RCV000766831]|not specified [RCV000177215] Chr11:45916248 [GRCh38]
Chr11:45937799 [GRCh37]
Chr11:11p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004813.4(PEX16):c.995_997del (p.Phe332del) deletion Peroxisome biogenesis disorder 8B [RCV000191117] Chr11:45910268..45910270 [GRCh38]
Chr11:45931819..45931821 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.1002T>C (p.Ser334=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000383174]|Peroxisome biogenesis disorder [RCV001087855]|not provided [RCV000313548] Chr11:45910263 [GRCh38]
Chr11:45931814 [GRCh37]
Chr11:11p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000389065]|Peroxisome biogenesis disorder 8B [RCV001788125]|Peroxisome biogenesis disorder [RCV001516100]|not provided [RCV000676058]|not specified [RCV000248969] Chr11:45913833 [GRCh38]
Chr11:45935384 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.542-16C>T single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001788123]|Peroxisome biogenesis disorder 8B [RCV001788124]|Peroxisome biogenesis disorder [RCV001515578]|not provided [RCV000676060]|not specified [RCV000244182] Chr11:45914484 [GRCh38]
Chr11:45936035 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.113-11C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002058174]|not specified [RCV000242840] Chr11:45917504 [GRCh38]
Chr11:45939055 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.359+20A>G single nucleotide variant not specified [RCV000252785] Chr11:45915683 [GRCh38]
Chr11:45937234 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.307G>A (p.Val103Met) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001106661]|Peroxisome biogenesis disorder [RCV001523728]|not provided [RCV000676061]|not specified [RCV000248033] Chr11:45915755 [GRCh38]
Chr11:45937306 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.303C>T (p.Ala101=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000303763]|Peroxisome biogenesis disorder [RCV001081867]|not provided [RCV000676062] Chr11:45915759 [GRCh38]
Chr11:45937310 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.*303C>T single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000267975]|not provided [RCV001636873] Chr11:45909951 [GRCh38]
Chr11:45931502 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.*557G>C single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000287824] Chr11:45909697 [GRCh38]
Chr11:45931248 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.*376G>A single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000348800] Chr11:45909878 [GRCh38]
Chr11:45931429 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.946G>A (p.Val316Ile) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000270043]|Peroxisome biogenesis disorder [RCV001859807] Chr11:45910904 [GRCh38]
Chr11:45932455 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.2(PEX16):c.-279G>A single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000334197]|not provided [RCV001711782] Chr11:45918090 [GRCh38]
Chr11:45939641 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000294744]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV000845059]|Peroxisome biogenesis disorder [RCV000549075]|not provided [RCV000676059] Chr11:45914138 [GRCh38]
Chr11:45935689 [GRCh37]
Chr11:11p11.2		 benign|likely benign|not provided
NM_004813.4(PEX16):c.*376G>C single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000312596]|not provided [RCV001683233] Chr11:45909878 [GRCh38]
Chr11:45931429 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.*158A>C single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000359079]|not provided [RCV000513889] Chr11:45910096 [GRCh38]
Chr11:45931647 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.699C>T (p.Leu233=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000385457]|Peroxisome biogenesis disorder [RCV002056201] Chr11:45914199 [GRCh38]
Chr11:45935750 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.*324G>A single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000298527] Chr11:45909930 [GRCh38]
Chr11:45931481 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.2(PEX16):c.-184A>G single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000364349] Chr11:45917995 [GRCh38]
Chr11:45939546 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.694+11C>T single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000281774]|Peroxisome biogenesis disorder [RCV002056202] Chr11:45914305 [GRCh38]
Chr11:45935856 [GRCh37]
Chr11:11p11.2		 benign|uncertain significance
NM_004813.4(PEX16):c.360-7G>A single nucleotide variant PEX16-related condition [RCV003930287]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV000343383]|Peroxisome biogenesis disorder [RCV001396191] Chr11:45915575 [GRCh38]
Chr11:45937126 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.*107C>T single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000264356] Chr11:45910147 [GRCh38]
Chr11:45931698 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.2(PEX16):c.-265C>T single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000269701] Chr11:45918076 [GRCh38]
Chr11:45939627 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.999C>T (p.Tyr333=) single nucleotide variant PEX16-related condition [RCV003930178]|Peroxisome biogenesis disorder [RCV001087447]|not provided [RCV000270091] Chr11:45910266 [GRCh38]
Chr11:45931817 [GRCh37]
Chr11:11p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) single nucleotide variant PEX16-related condition [RCV003409405]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001108731]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV002494830]|Peroxisome biogenesis disorder [RCV001234426]|not provided [RCV000303460] Chr11:45913829 [GRCh38]
Chr11:45935380 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.370C>T (p.Arg124Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV001855116]|not provided [RCV000275304] Chr11:45915558 [GRCh38]
Chr11:45937109 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.918G>C (p.Leu306=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000325123] Chr11:45910932 [GRCh38]
Chr11:45932483 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.609C>T (p.His203=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000395794]|Peroxisome biogenesis disorder [RCV001484687] Chr11:45914401 [GRCh38]
Chr11:45935952 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.*438C>T single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000396548]|not provided [RCV001683232] Chr11:45909816 [GRCh38]
Chr11:45931367 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.*341C>T single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000399589] Chr11:45909913 [GRCh38]
Chr11:45931464 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.*65T>C single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000328775]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV002487358]|not provided [RCV001788195] Chr11:45910189 [GRCh38]
Chr11:45931740 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.887+9C>A single nucleotide variant PEX16-related condition [RCV003949903]|Peroxisome biogenesis disorder [RCV001436337]|not provided [RCV000388189] Chr11:45913810 [GRCh38]
Chr11:45935361 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.2(PEX16):c.-305C>T single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000275396] Chr11:45918116 [GRCh38]
Chr11:45939667 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.2(PEX16):c.-164G>T single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000309688] Chr11:45917975 [GRCh38]
Chr11:45939526 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.726G>A (p.Ser242=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000330989]|Peroxisome biogenesis disorder [RCV001411288]|not provided [RCV003391073] Chr11:45914172 [GRCh38]
Chr11:45935723 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.812G>T (p.Arg271Leu) single nucleotide variant not provided [RCV000320043] Chr11:45913894 [GRCh38]
Chr11:45935445 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.208C>T (p.Arg70Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV001850458]|not provided [RCV000289858] Chr11:45916244 [GRCh38]
Chr11:45937795 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser) single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000337589] Chr11:45914382 [GRCh38]
Chr11:45935933 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.*10C>T single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001108730]|not specified [RCV000293807] Chr11:45910244 [GRCh38]
Chr11:45931795 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000279051] Chr11:45914605 [GRCh38]
Chr11:45936156 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.802C>T (p.Arg268Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV001859733]|not provided [RCV000297741] Chr11:45913904 [GRCh38]
Chr11:45935455 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.599A>G (p.Gln200Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV001963799] Chr11:45914411 [GRCh38]
Chr11:45935962 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.2(PEX16):c.-67C>A single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000398973] Chr11:45917878 [GRCh38]
Chr11:45939429 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.*277C>T single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000304279] Chr11:45909977 [GRCh38]
Chr11:45931528 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.*491G>A single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000352206] Chr11:45909763 [GRCh38]
Chr11:45931314 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.2(PEX16):c.-290C>G single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000370050] Chr11:45918101 [GRCh38]
Chr11:45939652 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.*309G>C single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000353395] Chr11:45909945 [GRCh38]
Chr11:45931496 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.348C>T (p.Val116=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV000390073]|Peroxisome biogenesis disorder [RCV002520721] Chr11:45915714 [GRCh38]
Chr11:45937265 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_057174.2(PEX16):c.*434G>A single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000392043] Chr11:45909655 [GRCh38]
Chr11:45931206 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.*587A>G single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000287234] Chr11:45909667 [GRCh38]
Chr11:45931218 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.874G>A (p.Asp292Asn) single nucleotide variant not provided [RCV000730124] Chr11:45913832 [GRCh38]
Chr11:45935383 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.340G>A (p.Ala114Thr) single nucleotide variant Peroxisome biogenesis disorder [RCV001325839]|not provided [RCV000592428] Chr11:45915722 [GRCh38]
Chr11:45937273 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.147G>A (p.Leu49=) single nucleotide variant Peroxisome biogenesis disorder [RCV001867962]|not provided [RCV000596985] Chr11:45917459 [GRCh38]
Chr11:45939010 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.273C>T (p.Cys91=) single nucleotide variant Peroxisome biogenesis disorder [RCV001450374]|not provided [RCV000730189] Chr11:45915789 [GRCh38]
Chr11:45937340 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.87G>A (p.Val29=) single nucleotide variant not provided [RCV000730661] Chr11:45917725 [GRCh38]
Chr11:45939276 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.684G>A (p.Pro228=) single nucleotide variant Peroxisome biogenesis disorder [RCV001495031]|not provided [RCV000731036] Chr11:45914326 [GRCh38]
Chr11:45935877 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.835A>G (p.Ile279Val) single nucleotide variant not provided [RCV000732054] Chr11:45913871 [GRCh38]
Chr11:45935422 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.27C>T (p.Leu9=) single nucleotide variant Peroxisome biogenesis disorder [RCV001494470]|not provided [RCV000732083] Chr11:45917785 [GRCh38]
Chr11:45939336 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.18C>G (p.Leu6=) single nucleotide variant Peroxisome biogenesis disorder [RCV002067176]|not provided [RCV000735029] Chr11:45917794 [GRCh38]
Chr11:45939345 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.922G>C (p.Asp308His) single nucleotide variant Inborn genetic diseases [RCV002535124]|Peroxisome biogenesis disorder [RCV002533108]|not provided [RCV000729593] Chr11:45910928 [GRCh38]
Chr11:45932479 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.623C>T (p.Ala208Val) single nucleotide variant Peroxisome biogenesis disorder [RCV001237494]|not provided [RCV000732103] Chr11:45914387 [GRCh38]
Chr11:45935938 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.415C>T (p.Pro139Ser) single nucleotide variant not provided [RCV000734419] Chr11:45915513 [GRCh38]
Chr11:45937064 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.695-5G>A single nucleotide variant Peroxisome biogenesis disorder [RCV001481027]|not provided [RCV000731467] Chr11:45914208 [GRCh38]
Chr11:45935759 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.132C>G (p.His44Gln) single nucleotide variant not provided [RCV000728947] Chr11:45917474 [GRCh38]
Chr11:45939025 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.612G>A (p.Glu204=) single nucleotide variant Peroxisome biogenesis disorder [RCV002535219]|not provided [RCV000731570] Chr11:45914398 [GRCh38]
Chr11:45935949 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001103567]|Peroxisome biogenesis disorder [RCV001346574]|not provided [RCV000732896] Chr11:45913894 [GRCh38]
Chr11:45935445 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.578A>G (p.Gln193Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV001855697]|not provided [RCV000732924] Chr11:45914432 [GRCh38]
Chr11:45935983 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.541+8G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002535110]|not provided [RCV000729251] Chr11:45914596 [GRCh38]
Chr11:45936147 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.774C>T (p.Ser258=) single nucleotide variant Peroxisome biogenesis disorder [RCV002535114]|not provided [RCV000729309] Chr11:45913932 [GRCh38]
Chr11:45935483 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.820C>A (p.Leu274Met) single nucleotide variant Peroxisome biogenesis disorder [RCV001309995]|not provided [RCV000731933] Chr11:45913886 [GRCh38]
Chr11:45935437 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.751G>A (p.Val251Ile) single nucleotide variant not provided [RCV000730988] Chr11:45914147 [GRCh38]
Chr11:45935698 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2		 pathogenic
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 copy number loss See cases [RCV000446153] Chr11:45873733..46409298 [GRCh37]
Chr11:11p11.2		 likely pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
NM_004813.4(PEX16):c.956_958del (p.Pro319del) deletion not provided [RCV000484315]|not specified [RCV003235242] Chr11:45910307..45910309 [GRCh38]
Chr11:45931858..45931860 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV002525833]|not provided [RCV000480123] Chr11:45914331 [GRCh38]
Chr11:45935882 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_004813.4(PEX16):c.262G>A (p.Val88Met) single nucleotide variant PEX16-related condition [RCV003945398]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001250061]|Peroxisome biogenesis disorder [RCV001087648]|not provided [RCV000597515] Chr11:45915800 [GRCh38]
Chr11:45937351 [GRCh37]
Chr11:11p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004813.4(PEX16):c.499G>A (p.Val167Met) single nucleotide variant Inborn genetic diseases [RCV003160027]|PEX16-related condition [RCV003424164]|Peroxisome biogenesis disorder [RCV001238544]|not provided [RCV000595504] Chr11:45914646 [GRCh38]
Chr11:45936197 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.180C>T (p.Leu60=) single nucleotide variant Peroxisome biogenesis disorder [RCV001459174]|not provided [RCV000596590] Chr11:45916272 [GRCh38]
Chr11:45937823 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) single nucleotide variant Inborn genetic diseases [RCV002532548]|PEX16-related condition [RCV003392433]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV000763742]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001335193]|Peroxisome biogenesis disorder [RCV001225566]|not provided [RCV000597243] Chr11:45914684 [GRCh38]
Chr11:45936235 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.593G>A (p.Arg198Gln) single nucleotide variant Peroxisome biogenesis disorder [RCV001230642]|not provided [RCV000594009] Chr11:45914417 [GRCh38]
Chr11:45935968 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.952+18C>T single nucleotide variant Peroxisome biogenesis disorder [RCV001517472]|not provided [RCV000514470] Chr11:45910880 [GRCh38]
Chr11:45932431 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly) single nucleotide variant Inborn genetic diseases [RCV002530994]|Peroxisome biogenesis disorder [RCV001860158]|not provided [RCV000596983] Chr11:45914673 [GRCh38]
Chr11:45936224 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV003152611]|Peroxisome biogenesis disorder 8B [RCV000680059]|Peroxisome biogenesis disorder [RCV001236014]|not provided [RCV003133504] Chr11:45913847 [GRCh38]
Chr11:45935398 [GRCh37]
Chr11:11p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p11.2(chr11:45229091-46342834)x3 copy number gain not provided [RCV000750026] Chr11:45229091..46342834 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) single nucleotide variant PEX16-related condition [RCV003392731]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001004854] Chr11:45914330 [GRCh38]
Chr11:45935881 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000988533]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001788386]|Peroxisome biogenesis disorder 8B [RCV001788387]|Peroxisome biogenesis disorder [RCV001516101]|not specified [RCV001699497] Chr11:45915716 [GRCh38]
Chr11:45937267 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.25C>T (p.Leu9Phe) single nucleotide variant Peroxisome biogenesis disorder [RCV002001604] Chr11:45917787 [GRCh38]
Chr11:45939338 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.458C>T (p.Pro153Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV001059359] Chr11:45915470 [GRCh38]
Chr11:45937021 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.657C>T (p.Ile219=) single nucleotide variant Peroxisome biogenesis disorder [RCV001858586] Chr11:45914353 [GRCh38]
Chr11:45935904 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.635C>G (p.Pro212Arg) single nucleotide variant Microcephaly [RCV001252835]|Peroxisome biogenesis disorder [RCV000976367] Chr11:45914375 [GRCh38]
Chr11:45935926 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.943C>T (p.Leu315=) single nucleotide variant Peroxisome biogenesis disorder [RCV000947342]|not provided [RCV003392706] Chr11:45910907 [GRCh38]
Chr11:45932458 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.814C>T (p.Arg272Trp) single nucleotide variant Inborn genetic diseases [RCV002553078]|Peroxisome biogenesis disorder [RCV001041244] Chr11:45913892 [GRCh38]
Chr11:45935443 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.824G>A (p.Arg275Gln) single nucleotide variant Peroxisome biogenesis disorder [RCV001043005] Chr11:45913882 [GRCh38]
Chr11:45935433 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.957G>A (p.Pro319=) single nucleotide variant Peroxisome biogenesis disorder [RCV000978372] Chr11:45910308 [GRCh38]
Chr11:45931859 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.148+7C>T single nucleotide variant PEX16-related condition [RCV003950811]|Peroxisome biogenesis disorder [RCV000914919] Chr11:45917451 [GRCh38]
Chr11:45939002 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.149-6C>T single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001106663]|Peroxisome biogenesis disorder [RCV000892110] Chr11:45916309 [GRCh38]
Chr11:45937860 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser) single nucleotide variant PEX16-related condition [RCV003405275]|Peroxisome biogenesis disorder [RCV001061364] Chr11:45913829 [GRCh38]
Chr11:45935380 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.592C>T (p.Arg198Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV001201679] Chr11:45914418 [GRCh38]
Chr11:45935969 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.149-13C>G single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001108812]|Peroxisome biogenesis disorder [RCV001413213] Chr11:45916316 [GRCh38]
Chr11:45937867 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.952+19G>T single nucleotide variant Peroxisome biogenesis disorder [RCV003106473] Chr11:45910879 [GRCh38]
Chr11:45932430 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.607C>A (p.His203Asn) single nucleotide variant Inborn genetic diseases [RCV003291125] Chr11:45914403 [GRCh38]
Chr11:45935954 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.887+117G>A single nucleotide variant not provided [RCV001639452] Chr11:45913702 [GRCh38]
Chr11:45935253 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.952+203C>T single nucleotide variant not provided [RCV001714109] Chr11:45910695 [GRCh38]
Chr11:45932246 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.149-116_149-115del deletion not provided [RCV001718466] Chr11:45916418..45916419 [GRCh38]
Chr11:45937969..45937970 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.444C>G (p.Thr148=) single nucleotide variant PEX16-related condition [RCV003960483]|Peroxisome biogenesis disorder [RCV001458318] Chr11:45915484 [GRCh38]
Chr11:45937035 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.42C>T (p.Tyr14=) single nucleotide variant Peroxisome biogenesis disorder [RCV001451623] Chr11:45917770 [GRCh38]
Chr11:45939321 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.421A>G (p.Ile141Val) single nucleotide variant Inborn genetic diseases [RCV002567931]|Peroxisome biogenesis disorder [RCV001239398] Chr11:45915507 [GRCh38]
Chr11:45937058 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.418C>A (p.Pro140Thr) single nucleotide variant Peroxisome biogenesis disorder [RCV001245054] Chr11:45915510 [GRCh38]
Chr11:45937061 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.823C>T (p.Arg275Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV001227812] Chr11:45913883 [GRCh38]
Chr11:45935434 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.861C>T (p.Arg287=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001103566] Chr11:45913845 [GRCh38]
Chr11:45935396 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.1006G>C (p.Gly336Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV001225350] Chr11:45910259 [GRCh38]
Chr11:45931810 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.909C>T (p.Leu303=) single nucleotide variant not provided [RCV000912275] Chr11:45910941 [GRCh38]
Chr11:45932492 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-249G>A single nucleotide variant not provided [RCV001595814] Chr11:45911211 [GRCh38]
Chr11:45932762 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys) single nucleotide variant Peroxisome biogenesis disorder due to PEX16 defect [RCV002472137] Chr11:45914184 [GRCh38]
Chr11:45935735 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.148+137A>T single nucleotide variant not provided [RCV001684727] Chr11:45917321 [GRCh38]
Chr11:45938872 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.460+202C>G single nucleotide variant not provided [RCV001675023] Chr11:45915266 [GRCh38]
Chr11:45936817 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.888-287A>T single nucleotide variant not provided [RCV001715353] Chr11:45911249 [GRCh38]
Chr11:45932800 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001103569] Chr11:45914192 [GRCh38]
Chr11:45935743 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.616C>G (p.Leu206Val) single nucleotide variant PEX16-related condition [RCV003918684]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001105496]|Peroxisome biogenesis disorder [RCV001361646] Chr11:45914394 [GRCh38]
Chr11:45935945 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.*175C>A single nucleotide variant PEX16-related condition [RCV003906200]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001106549] Chr11:45910079 [GRCh38]
Chr11:45931630 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.*53C>G single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001108729] Chr11:45910201 [GRCh38]
Chr11:45931752 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.*70C>G single nucleotide variant PEX16-related condition [RCV003906205]|Peroxisome biogenesis disorder 8A (Zellweger) [RCV001108728] Chr11:45910184 [GRCh38]
Chr11:45931735 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.-63G>C single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001108813] Chr11:45917874 [GRCh38]
Chr11:45939425 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.45918297A>C single nucleotide variant not provided [RCV001651458] Chr11:45918297 [GRCh38]
Chr11:45939848 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.209G>A (p.Arg70Gln) single nucleotide variant Peroxisome biogenesis disorder [RCV001063577] Chr11:45916243 [GRCh38]
Chr11:45937794 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.826C>T (p.Arg276Cys) single nucleotide variant Peroxisome biogenesis disorder [RCV001231365] Chr11:45913880 [GRCh38]
Chr11:45935431 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.34C>A (p.Gln12Lys) single nucleotide variant Peroxisome biogenesis disorder [RCV001235096] Chr11:45917778 [GRCh38]
Chr11:45939329 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.583C>T (p.Arg195Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV001210758] Chr11:45914427 [GRCh38]
Chr11:45935978 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.(?_45805782)_(45910982_?)dup duplication Leukocyte adhesion deficiency type II [RCV001032981] Chr11:45827333..45932533 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.672C>T (p.Tyr224=) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001105495]|Peroxisome biogenesis disorder [RCV002069736] Chr11:45914338 [GRCh38]
Chr11:45935889 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001105497] Chr11:45915474 [GRCh38]
Chr11:45937025 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV001202629] Chr11:45916256 [GRCh38]
Chr11:45937807 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.937G>A (p.Val313Ile) single nucleotide variant Peroxisome biogenesis disorder [RCV001229660] Chr11:45910913 [GRCh38]
Chr11:45932464 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001106662] Chr11:45916255 [GRCh38]
Chr11:45937806 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001250071]|Peroxisome biogenesis disorder [RCV001879771] Chr11:45914188 [GRCh38]
Chr11:45935739 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001103568] Chr11:45914168 [GRCh38]
Chr11:45935719 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.307G>C (p.Val103Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV001071053] Chr11:45915755 [GRCh38]
Chr11:45937306 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.206T>G (p.Leu69Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV001203478] Chr11:45916246 [GRCh38]
Chr11:45937797 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.649_651del (p.Glu217del) deletion Peroxisome biogenesis disorder [RCV001066653] Chr11:45914359..45914361 [GRCh38]
Chr11:45935910..45935912 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 copy number gain not provided [RCV001259092] Chr11:44266593..46123796 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.187G>A (p.Gly63Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV001348231] Chr11:45916265 [GRCh38]
Chr11:45937816 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.172G>A (p.Val58Met) single nucleotide variant Peroxisome biogenesis disorder [RCV001294680] Chr11:45916280 [GRCh38]
Chr11:45937831 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.227C>T (p.Ser76Leu) single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001335192]|Peroxisome biogenesis disorder [RCV001865827] Chr11:45915835 [GRCh38]
Chr11:45937386 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.922G>A (p.Asp308Asn) single nucleotide variant Inborn genetic diseases [RCV002546930]|Peroxisome biogenesis disorder [RCV001341414] Chr11:45910928 [GRCh38]
Chr11:45932479 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.651G>T (p.Glu217Asp) single nucleotide variant Peroxisome biogenesis disorder [RCV001343334] Chr11:45914359 [GRCh38]
Chr11:45935910 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.643C>G (p.Leu215Val) single nucleotide variant Peroxisome biogenesis disorder [RCV001340921] Chr11:45914367 [GRCh38]
Chr11:45935918 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.811C>T (p.Arg271Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV001297630] Chr11:45913895 [GRCh38]
Chr11:45935446 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.371G>A (p.Arg124Gln) single nucleotide variant Peroxisome biogenesis disorder [RCV001360649] Chr11:45915557 [GRCh38]
Chr11:45937108 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.542-4C>G single nucleotide variant Peroxisome biogenesis disorder [RCV001422491] Chr11:45914472 [GRCh38]
Chr11:45936023 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.421A>C (p.Ile141Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV001371606] Chr11:45915507 [GRCh38]
Chr11:45937058 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.832A>G (p.Thr278Ala) single nucleotide variant Peroxisome biogenesis disorder [RCV001363760] Chr11:45913874 [GRCh38]
Chr11:45935425 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.475C>T (p.Pro159Ser) single nucleotide variant Peroxisome biogenesis disorder [RCV001323669]|not provided [RCV003132416] Chr11:45914670 [GRCh38]
Chr11:45936221 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.554A>G (p.His185Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV001323742] Chr11:45914456 [GRCh38]
Chr11:45936007 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.962T>C (p.Met321Thr) single nucleotide variant Inborn genetic diseases [RCV003263947]|Peroxisome biogenesis disorder [RCV001316388] Chr11:45910303 [GRCh38]
Chr11:45931854 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.113-5C>T single nucleotide variant Peroxisome biogenesis disorder [RCV001394704] Chr11:45917498 [GRCh38]
Chr11:45939049 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.545C>T (p.Pro182Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV001365355] Chr11:45914465 [GRCh38]
Chr11:45936016 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.24C>T (p.Gly8=) single nucleotide variant Peroxisome biogenesis disorder [RCV001469311] Chr11:45917788 [GRCh38]
Chr11:45939339 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.113-15_113-7del deletion Peroxisome biogenesis disorder [RCV001450408] Chr11:45917500..45917508 [GRCh38]
Chr11:45939051..45939059 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.711G>A (p.Leu237=) single nucleotide variant Peroxisome biogenesis disorder [RCV001435714] Chr11:45914187 [GRCh38]
Chr11:45935738 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.546G>A (p.Pro182=) single nucleotide variant Peroxisome biogenesis disorder [RCV001496326] Chr11:45914464 [GRCh38]
Chr11:45936015 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.471C>T (p.His157=) single nucleotide variant Peroxisome biogenesis disorder [RCV001452241] Chr11:45914674 [GRCh38]
Chr11:45936225 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.846C>T (p.Leu282=) single nucleotide variant Peroxisome biogenesis disorder [RCV001500588] Chr11:45913860 [GRCh38]
Chr11:45935411 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.695-15C>T single nucleotide variant Peroxisome biogenesis disorder [RCV001399274] Chr11:45914218 [GRCh38]
Chr11:45935769 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+8G>T single nucleotide variant Peroxisome biogenesis disorder [RCV001409737] Chr11:45910890 [GRCh38]
Chr11:45932441 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.115C>T (p.Arg39Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV001385073] Chr11:45917491 [GRCh38]
Chr11:45939042 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.768-38A>G single nucleotide variant not provided [RCV001534516] Chr11:45913976 [GRCh38]
Chr11:45935527 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.65_71del (p.Thr22fs) deletion Peroxisome biogenesis disorder [RCV001381763] Chr11:45917741..45917747 [GRCh38]
Chr11:45939292..45939298 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.498C>T (p.Tyr166=) single nucleotide variant Peroxisome biogenesis disorder [RCV001447980] Chr11:45914647 [GRCh38]
Chr11:45936198 [GRCh37]
Chr11:11p11.2		 risk factor|likely benign
NM_004813.4(PEX16):c.702C>T (p.Ser234=) single nucleotide variant Peroxisome biogenesis disorder [RCV001502333] Chr11:45914196 [GRCh38]
Chr11:45935747 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.688C>T (p.Leu230=) single nucleotide variant Peroxisome biogenesis disorder [RCV001468599] Chr11:45914322 [GRCh38]
Chr11:45935873 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.346= (p.Val116=) variation Peroxisome biogenesis disorder [RCV001519848] Chr11:45915716 [GRCh38]
Chr11:45937267 [GRCh37]
Chr11:11p11.2		 benign
NC_000011.10:g.45918468A>G single nucleotide variant not provided [RCV001684628] Chr11:45918468 [GRCh38]
Chr11:45940019 [GRCh37]
Chr11:11p11.2		 benign
NC_000011.10:g.45918383C>G single nucleotide variant not provided [RCV001616020] Chr11:45918383 [GRCh38]
Chr11:45939934 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.*159C>T single nucleotide variant not provided [RCV001700929] Chr11:45910095 [GRCh38]
Chr11:45931646 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.423C>T (p.Ile141=) single nucleotide variant PEX16-related condition [RCV003900600]|Peroxisome biogenesis disorder [RCV001464015] Chr11:45915505 [GRCh38]
Chr11:45937056 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.460+84G>A single nucleotide variant not provided [RCV001590204] Chr11:45915384 [GRCh38]
Chr11:45936935 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.759C>T (p.Asp253=) single nucleotide variant Peroxisome biogenesis disorder [RCV001502353] Chr11:45914139 [GRCh38]
Chr11:45935690 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+20_952+21del microsatellite Peroxisome biogenesis disorder [RCV001516785] Chr11:45910877..45910878 [GRCh38]
Chr11:45932428..45932429 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.359+13del deletion Peroxisome biogenesis disorder [RCV001512974] Chr11:45915690 [GRCh38]
Chr11:45937241 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.654C>G (p.Thr218=) single nucleotide variant Peroxisome biogenesis disorder [RCV001402354] Chr11:45914356 [GRCh38]
Chr11:45935907 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.887+2T>G single nucleotide variant Peroxisome biogenesis disorder [RCV001379404] Chr11:45913817 [GRCh38]
Chr11:45935368 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.768-18G>A single nucleotide variant Peroxisome biogenesis disorder [RCV001480981] Chr11:45913956 [GRCh38]
Chr11:45935507 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.960C>T (p.Leu320=) single nucleotide variant PEX16-related condition [RCV003908742]|Peroxisome biogenesis disorder [RCV001485637] Chr11:45910305 [GRCh38]
Chr11:45931856 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.461-2_461del deletion not provided [RCV001822131] Chr11:45914684..45914686 [GRCh38]
Chr11:45936235..45936237 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NC_000011.9:g.(?_45827353)_(45932533_?)dup duplication Peroxisome biogenesis disorder [RCV002025400] Chr11:45827353..45932533 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.360-9C>A single nucleotide variant Peroxisome biogenesis disorder [RCV001988714] Chr11:45915577 [GRCh38]
Chr11:45937128 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.888-2A>C single nucleotide variant Peroxisome biogenesis disorder [RCV002021992] Chr11:45910964 [GRCh38]
Chr11:45932515 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.694+12G>A single nucleotide variant Peroxisome biogenesis disorder [RCV001911632] Chr11:45914304 [GRCh38]
Chr11:45935855 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.460+5G>A single nucleotide variant Peroxisome biogenesis disorder 8A (Zellweger) [RCV001824215]|Peroxisome biogenesis disorder [RCV001869831] Chr11:45915463 [GRCh38]
Chr11:45937014 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_004813.4(PEX16):c.28C>A (p.Arg10Ser) single nucleotide variant Peroxisome biogenesis disorder [RCV001864165] Chr11:45917784 [GRCh38]
Chr11:45939335 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.734C>T (p.Pro245Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV001896273] Chr11:45914164 [GRCh38]
Chr11:45935715 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.694+14G>A single nucleotide variant Peroxisome biogenesis disorder [RCV001914247] Chr11:45914302 [GRCh38]
Chr11:45935853 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.149-5C>G single nucleotide variant Peroxisome biogenesis disorder [RCV002022787] Chr11:45916308 [GRCh38]
Chr11:45937859 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.887A>G (p.Glu296Gly) single nucleotide variant Peroxisome biogenesis disorder [RCV001890636] Chr11:45913819 [GRCh38]
Chr11:45935370 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.827G>A (p.Arg276His) single nucleotide variant Peroxisome biogenesis disorder [RCV001893420] Chr11:45913879 [GRCh38]
Chr11:45935430 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.629C>T (p.Pro210Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV002003692] Chr11:45914381 [GRCh38]
Chr11:45935932 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.707G>T (p.Gly236Val) single nucleotide variant Peroxisome biogenesis disorder [RCV001892476] Chr11:45914191 [GRCh38]
Chr11:45935742 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.459G>A (p.Pro153=) single nucleotide variant Peroxisome biogenesis disorder [RCV001890556] Chr11:45915469 [GRCh38]
Chr11:45937020 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.262G>T (p.Val88Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV002044033] Chr11:45915800 [GRCh38]
Chr11:45937351 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.784G>A (p.Asp262Asn) single nucleotide variant Peroxisome biogenesis disorder [RCV002021987] Chr11:45913922 [GRCh38]
Chr11:45935473 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.740T>C (p.Leu247Pro) single nucleotide variant Peroxisome biogenesis disorder [RCV002021120] Chr11:45914158 [GRCh38]
Chr11:45935709 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.815G>A (p.Arg272Gln) single nucleotide variant Peroxisome biogenesis disorder [RCV001895130] Chr11:45913891 [GRCh38]
Chr11:45935442 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.274G>A (p.Val92Met) single nucleotide variant Peroxisome biogenesis disorder [RCV001928039] Chr11:45915788 [GRCh38]
Chr11:45937339 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.737G>A (p.Trp246Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV001946580] Chr11:45914161 [GRCh38]
Chr11:45935712 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.928G>A (p.Val310Ile) single nucleotide variant Peroxisome biogenesis disorder [RCV001910964] Chr11:45910922 [GRCh38]
Chr11:45932473 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.230T>C (p.Leu77Pro) single nucleotide variant Peroxisome biogenesis disorder [RCV001893109] Chr11:45915832 [GRCh38]
Chr11:45937383 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.805_813dup (p.268RRE[3]) duplication Peroxisome biogenesis disorder [RCV001947552] Chr11:45913892..45913893 [GRCh38]
Chr11:45935443..45935444 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.225+18A>T single nucleotide variant Peroxisome biogenesis disorder [RCV001945356] Chr11:45916209 [GRCh38]
Chr11:45937760 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.469C>A (p.His157Asn) single nucleotide variant Peroxisome biogenesis disorder [RCV001966684] Chr11:45914676 [GRCh38]
Chr11:45936227 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.675T>A (p.Ile225=) single nucleotide variant Peroxisome biogenesis disorder [RCV001945626] Chr11:45914335 [GRCh38]
Chr11:45935886 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 copy number loss not provided [RCV001836486] Chr11:40117145..46920718 [GRCh37]
Chr11:11p12-11.2		 pathogenic
NM_004813.4(PEX16):c.760G>A (p.Val254Met) single nucleotide variant Peroxisome biogenesis disorder [RCV001930949] Chr11:45914138 [GRCh38]
Chr11:45935689 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.169C>T (p.Leu57Phe) single nucleotide variant Peroxisome biogenesis disorder [RCV001976537] Chr11:45916283 [GRCh38]
Chr11:45937834 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.170T>C (p.Leu57Pro) single nucleotide variant Peroxisome biogenesis disorder [RCV001880397] Chr11:45916282 [GRCh38]
Chr11:45937833 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.463G>A (p.Gly155Ser) single nucleotide variant Peroxisome biogenesis disorder [RCV001887699] Chr11:45914682 [GRCh38]
Chr11:45936233 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.165C>G (p.Asn55Lys) single nucleotide variant Peroxisome biogenesis disorder [RCV001916883] Chr11:45916287 [GRCh38]
Chr11:45937838 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.446dup (p.Ala150fs) duplication Peroxisome biogenesis disorder [RCV001962027] Chr11:45915481..45915482 [GRCh38]
Chr11:45937032..45937033 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.960_961del (p.Met321fs) deletion Peroxisome biogenesis disorder [RCV002029926] Chr11:45910304..45910305 [GRCh38]
Chr11:45931855..45931856 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.693_694del (p.Leu232fs) deletion Peroxisome biogenesis disorder [RCV001942101] Chr11:45914316..45914317 [GRCh38]
Chr11:45935867..45935868 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.306G>C (p.Lys102Asn) single nucleotide variant Peroxisome biogenesis disorder [RCV001998626] Chr11:45915756 [GRCh38]
Chr11:45937307 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.460+17A>G single nucleotide variant Peroxisome biogenesis disorder [RCV001902798] Chr11:45915451 [GRCh38]
Chr11:45937002 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NC_000011.9:g.(?_45827353)_(46401497_?)del deletion Peroxisome biogenesis disorder [RCV001953896] Chr11:45827353..46401497 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.325C>T (p.Arg109Cys) single nucleotide variant Peroxisome biogenesis disorder [RCV002037449] Chr11:45915737 [GRCh38]
Chr11:45937288 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.610G>A (p.Glu204Lys) single nucleotide variant Peroxisome biogenesis disorder [RCV002047730] Chr11:45914400 [GRCh38]
Chr11:45935951 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.189G>A (p.Gly63=) single nucleotide variant Peroxisome biogenesis disorder [RCV001941757] Chr11:45916263 [GRCh38]
Chr11:45937814 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.803G>A (p.Arg268Gln) single nucleotide variant Inborn genetic diseases [RCV002560478]|PEX16-related condition [RCV003892965]|Peroxisome biogenesis disorder [RCV001924189] Chr11:45913903 [GRCh38]
Chr11:45935454 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.694+1G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002014184] Chr11:45914315 [GRCh38]
Chr11:45935866 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.821T>C (p.Leu274Pro) single nucleotide variant Peroxisome biogenesis disorder [RCV001899246] Chr11:45913885 [GRCh38]
Chr11:45935436 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.805A>G (p.Arg269Gly) single nucleotide variant Peroxisome biogenesis disorder [RCV001882268] Chr11:45913901 [GRCh38]
Chr11:45935452 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.588G>C (p.Glu196Asp) single nucleotide variant Peroxisome biogenesis disorder [RCV002050680] Chr11:45914422 [GRCh38]
Chr11:45935973 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.134A>T (p.Glu45Val) single nucleotide variant Peroxisome biogenesis disorder [RCV001991160] Chr11:45917472 [GRCh38]
Chr11:45939023 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.945G>A (p.Leu315=) single nucleotide variant Peroxisome biogenesis disorder [RCV001936445] Chr11:45910905 [GRCh38]
Chr11:45932456 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.768C>T (p.Ser256=) single nucleotide variant Peroxisome biogenesis disorder [RCV002032176] Chr11:45913938 [GRCh38]
Chr11:45935489 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.13C>T (p.Arg5Trp) single nucleotide variant Inborn genetic diseases [RCV002625370]|Peroxisome biogenesis disorder [RCV002015109] Chr11:45917799 [GRCh38]
Chr11:45939350 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.202G>A (p.Glu68Lys) single nucleotide variant Peroxisome biogenesis disorder [RCV001976989] Chr11:45916250 [GRCh38]
Chr11:45937801 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.451C>T (p.Gln151Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV001953436] Chr11:45915477 [GRCh38]
Chr11:45937028 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.844C>T (p.Leu282Phe) single nucleotide variant Peroxisome biogenesis disorder [RCV001972018] Chr11:45913862 [GRCh38]
Chr11:45935413 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.418C>G (p.Pro140Ala) single nucleotide variant Peroxisome biogenesis disorder [RCV001974893] Chr11:45915510 [GRCh38]
Chr11:45937061 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.359A>T (p.Lys120Met) single nucleotide variant Peroxisome biogenesis disorder [RCV001954007] Chr11:45915703 [GRCh38]
Chr11:45937254 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.659C>T (p.Ala220Val) single nucleotide variant Peroxisome biogenesis disorder [RCV002047836] Chr11:45914351 [GRCh38]
Chr11:45935902 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.339C>A (p.Ile113=) single nucleotide variant Peroxisome biogenesis disorder [RCV001898869] Chr11:45915723 [GRCh38]
Chr11:45937274 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.952+15G>T single nucleotide variant Peroxisome biogenesis disorder [RCV001936878] Chr11:45910883 [GRCh38]
Chr11:45932434 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.952+3A>C single nucleotide variant Peroxisome biogenesis disorder [RCV002017580] Chr11:45910895 [GRCh38]
Chr11:45932446 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.703C>G (p.Leu235Val) single nucleotide variant Peroxisome biogenesis disorder [RCV001883791] Chr11:45914195 [GRCh38]
Chr11:45935746 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.86T>G (p.Val29Gly) single nucleotide variant Peroxisome biogenesis disorder [RCV001898037] Chr11:45917726 [GRCh38]
Chr11:45939277 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.448G>T (p.Ala150Ser) single nucleotide variant Peroxisome biogenesis disorder [RCV002029957] Chr11:45915480 [GRCh38]
Chr11:45937031 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.492G>C (p.Gln164His) single nucleotide variant PEX16-related condition [RCV003416632]|Peroxisome biogenesis disorder [RCV001971872]|not provided [RCV003481197] Chr11:45914653 [GRCh38]
Chr11:45936204 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.752T>G (p.Val251Gly) single nucleotide variant Inborn genetic diseases [RCV003247197]|Peroxisome biogenesis disorder [RCV001974606] Chr11:45914146 [GRCh38]
Chr11:45935697 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.718C>T (p.Gln240Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV001921085] Chr11:45914180 [GRCh38]
Chr11:45935731 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.419C>G (p.Pro140Arg) single nucleotide variant Inborn genetic diseases [RCV003355696]|Peroxisome biogenesis disorder [RCV001958256] Chr11:45915509 [GRCh38]
Chr11:45937060 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.178C>G (p.Leu60Val) single nucleotide variant Peroxisome biogenesis disorder [RCV001870033] Chr11:45916274 [GRCh38]
Chr11:45937825 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.892A>G (p.Arg298Gly) single nucleotide variant Peroxisome biogenesis disorder [RCV001906172] Chr11:45910958 [GRCh38]
Chr11:45932509 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.461-6del deletion Peroxisome biogenesis disorder [RCV001924785] Chr11:45914690 [GRCh38]
Chr11:45936241 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.293T>C (p.Met98Thr) single nucleotide variant Peroxisome biogenesis disorder [RCV001997912] Chr11:45915769 [GRCh38]
Chr11:45937320 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.112+2T>G single nucleotide variant Peroxisome biogenesis disorder [RCV002018533] Chr11:45917698 [GRCh38]
Chr11:45939249 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.494C>A (p.Ser165Tyr) single nucleotide variant Peroxisome biogenesis disorder [RCV001940664] Chr11:45914651 [GRCh38]
Chr11:45936202 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.16C>T (p.Leu6Phe) single nucleotide variant Peroxisome biogenesis disorder [RCV001930206] Chr11:45917796 [GRCh38]
Chr11:45939347 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.768-12C>T single nucleotide variant Peroxisome biogenesis disorder [RCV001989162] Chr11:45913950 [GRCh38]
Chr11:45935501 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.595C>A (p.Gln199Lys) single nucleotide variant Peroxisome biogenesis disorder [RCV001991323] Chr11:45914415 [GRCh38]
Chr11:45935966 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.694+6C>A single nucleotide variant Peroxisome biogenesis disorder [RCV001977081] Chr11:45914310 [GRCh38]
Chr11:45935861 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.694+20G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002085197] Chr11:45914296 [GRCh38]
Chr11:45935847 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.624G>A (p.Ala208=) single nucleotide variant Peroxisome biogenesis disorder [RCV002105706] Chr11:45914386 [GRCh38]
Chr11:45935937 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.148+9G>T single nucleotide variant Peroxisome biogenesis disorder [RCV002146728] Chr11:45917449 [GRCh38]
Chr11:45939000 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.768-18G>T single nucleotide variant Peroxisome biogenesis disorder [RCV002167913] Chr11:45913956 [GRCh38]
Chr11:45935507 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.891C>T (p.Ala297=) single nucleotide variant Peroxisome biogenesis disorder [RCV002091809] Chr11:45910959 [GRCh38]
Chr11:45932510 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.460+20C>A single nucleotide variant Peroxisome biogenesis disorder [RCV002190668] Chr11:45915448 [GRCh38]
Chr11:45936999 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.165C>T (p.Asn55=) single nucleotide variant Peroxisome biogenesis disorder [RCV002185594] Chr11:45916287 [GRCh38]
Chr11:45937838 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.148+10G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002090399] Chr11:45917448 [GRCh38]
Chr11:45938999 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+19G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002107466] Chr11:45910879 [GRCh38]
Chr11:45932430 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.906G>C (p.Leu302=) single nucleotide variant Peroxisome biogenesis disorder [RCV002145185] Chr11:45910944 [GRCh38]
Chr11:45932495 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-3dup duplication Peroxisome biogenesis disorder [RCV002190196] Chr11:45910964..45910965 [GRCh38]
Chr11:45932515..45932516 [GRCh37]
Chr11:11p11.2		 benign
NM_004813.4(PEX16):c.18C>T (p.Leu6=) single nucleotide variant Peroxisome biogenesis disorder [RCV002091352] Chr11:45917794 [GRCh38]
Chr11:45939345 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-18A>C single nucleotide variant Peroxisome biogenesis disorder [RCV002147498] Chr11:45910980 [GRCh38]
Chr11:45932531 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.541+10G>T single nucleotide variant Peroxisome biogenesis disorder [RCV002174789] Chr11:45914594 [GRCh38]
Chr11:45936145 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.541+15T>A single nucleotide variant Peroxisome biogenesis disorder [RCV002216004] Chr11:45914589 [GRCh38]
Chr11:45936140 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.113-4C>T single nucleotide variant PEX16-related condition [RCV003895802]|Peroxisome biogenesis disorder [RCV002105814] Chr11:45917497 [GRCh38]
Chr11:45939048 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.525G>A (p.Val175=) single nucleotide variant Peroxisome biogenesis disorder [RCV002194119] Chr11:45914620 [GRCh38]
Chr11:45936171 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.825G>C (p.Arg275=) single nucleotide variant Peroxisome biogenesis disorder [RCV002195091] Chr11:45913881 [GRCh38]
Chr11:45935432 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.796C>T (p.Leu266=) single nucleotide variant Peroxisome biogenesis disorder [RCV002088480] Chr11:45913910 [GRCh38]
Chr11:45935461 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.345_346delinsTA (p.Val116Ile) indel Peroxisome biogenesis disorder [RCV002188777] Chr11:45915716..45915717 [GRCh38]
Chr11:45937267..45937268 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.694+7T>A single nucleotide variant Peroxisome biogenesis disorder [RCV002078773] Chr11:45914309 [GRCh38]
Chr11:45935860 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.149-20G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002078257] Chr11:45916323 [GRCh38]
Chr11:45937874 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.726G>T (p.Ser242=) single nucleotide variant Peroxisome biogenesis disorder [RCV002186150] Chr11:45914172 [GRCh38]
Chr11:45935723 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.112+9C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002152817] Chr11:45917691 [GRCh38]
Chr11:45939242 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-8C>T single nucleotide variant PEX16-related condition [RCV003950879]|Peroxisome biogenesis disorder [RCV002172182] Chr11:45915576 [GRCh38]
Chr11:45937127 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.226-12G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002093138] Chr11:45915848 [GRCh38]
Chr11:45937399 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.175C>T (p.Leu59=) single nucleotide variant Peroxisome biogenesis disorder [RCV002194753] Chr11:45916277 [GRCh38]
Chr11:45937828 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.324C>T (p.Gly108=) single nucleotide variant Peroxisome biogenesis disorder [RCV002196561] Chr11:45915738 [GRCh38]
Chr11:45937289 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.768-15C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002080075] Chr11:45913953 [GRCh38]
Chr11:45935504 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.186C>T (p.Asp62=) single nucleotide variant PEX16-related condition [RCV003895782]|Peroxisome biogenesis disorder [RCV002115339] Chr11:45916266 [GRCh38]
Chr11:45937817 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-18A>C single nucleotide variant Peroxisome biogenesis disorder [RCV002144903] Chr11:45915586 [GRCh38]
Chr11:45937137 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-13C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002109810] Chr11:45915581 [GRCh38]
Chr11:45937132 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.694+17del deletion Peroxisome biogenesis disorder [RCV002090032] Chr11:45914299 [GRCh38]
Chr11:45935850 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.768-20A>G single nucleotide variant Peroxisome biogenesis disorder [RCV002091696] Chr11:45913958 [GRCh38]
Chr11:45935509 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.633C>T (p.Thr211=) single nucleotide variant Peroxisome biogenesis disorder [RCV002106141] Chr11:45914377 [GRCh38]
Chr11:45935928 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-11C>A single nucleotide variant Peroxisome biogenesis disorder [RCV002114134] Chr11:45915579 [GRCh38]
Chr11:45937130 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-7C>T single nucleotide variant PEX16-related condition [RCV003933583]|Peroxisome biogenesis disorder [RCV002128494] Chr11:45910969 [GRCh38]
Chr11:45932520 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+10G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002082856] Chr11:45910888 [GRCh38]
Chr11:45932439 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.921C>T (p.Ala307=) single nucleotide variant Peroxisome biogenesis disorder [RCV002101670] Chr11:45910929 [GRCh38]
Chr11:45932480 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.189G>C (p.Gly63=) single nucleotide variant Peroxisome biogenesis disorder [RCV002123357] Chr11:45916263 [GRCh38]
Chr11:45937814 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.930C>T (p.Val310=) single nucleotide variant Peroxisome biogenesis disorder [RCV002082024] Chr11:45910920 [GRCh38]
Chr11:45932471 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.461-11A>G single nucleotide variant Peroxisome biogenesis disorder [RCV002155117] Chr11:45914695 [GRCh38]
Chr11:45936246 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-5C>A single nucleotide variant Peroxisome biogenesis disorder [RCV002082783] Chr11:45915573 [GRCh38]
Chr11:45937124 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.252A>G (p.Thr84=) single nucleotide variant PEX16-related condition [RCV003893268]|Peroxisome biogenesis disorder [RCV002097817] Chr11:45915810 [GRCh38]
Chr11:45937361 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.600G>A (p.Gln200=) single nucleotide variant Peroxisome biogenesis disorder [RCV002144413] Chr11:45914410 [GRCh38]
Chr11:45935961 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.534C>G (p.Leu178=) single nucleotide variant Peroxisome biogenesis disorder [RCV002199777] Chr11:45914611 [GRCh38]
Chr11:45936162 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-12T>G single nucleotide variant Peroxisome biogenesis disorder [RCV002135507] Chr11:45910974 [GRCh38]
Chr11:45932525 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.461-9C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002182926] Chr11:45914693 [GRCh38]
Chr11:45936244 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.112+18G>C single nucleotide variant Peroxisome biogenesis disorder [RCV002104231] Chr11:45917682 [GRCh38]
Chr11:45939233 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.261C>T (p.Ser87=) single nucleotide variant Peroxisome biogenesis disorder [RCV002082367] Chr11:45915801 [GRCh38]
Chr11:45937352 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.162T>C (p.Ser54=) single nucleotide variant Peroxisome biogenesis disorder [RCV002176261]|not provided [RCV003395415] Chr11:45916290 [GRCh38]
Chr11:45937841 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_004813.4(PEX16):c.113-10C>T single nucleotide variant PEX16-related condition [RCV003941332]|Peroxisome biogenesis disorder [RCV002199754] Chr11:45917503 [GRCh38]
Chr11:45939054 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.171T>G (p.Leu57=) single nucleotide variant Peroxisome biogenesis disorder [RCV002175315] Chr11:45916281 [GRCh38]
Chr11:45937832 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.694+13C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002184578] Chr11:45914303 [GRCh38]
Chr11:45935854 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+20C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002103660] Chr11:45910878 [GRCh38]
Chr11:45932429 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.102C>T (p.Tyr34=) single nucleotide variant Peroxisome biogenesis disorder [RCV002161438] Chr11:45917710 [GRCh38]
Chr11:45939261 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.303C>A (p.Ala101=) single nucleotide variant PEX16-related condition [RCV003926276]|Peroxisome biogenesis disorder [RCV002161883] Chr11:45915759 [GRCh38]
Chr11:45937310 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.975C>T (p.Pro325=) single nucleotide variant Peroxisome biogenesis disorder [RCV002161916] Chr11:45910290 [GRCh38]
Chr11:45931841 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.103C>T (p.Leu35=) single nucleotide variant Peroxisome biogenesis disorder [RCV002202541] Chr11:45917709 [GRCh38]
Chr11:45939260 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.767+15G>C single nucleotide variant Peroxisome biogenesis disorder [RCV002178489] Chr11:45914116 [GRCh38]
Chr11:45935667 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.357C>T (p.Ala119=) single nucleotide variant Peroxisome biogenesis disorder [RCV002160183] Chr11:45915705 [GRCh38]
Chr11:45937256 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.216G>C (p.Lys72Asn) single nucleotide variant Peroxisome biogenesis disorder [RCV003115687] Chr11:45916236 [GRCh38]
Chr11:45937787 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_004813.4(PEX16):c.609C>G (p.His203Gln) single nucleotide variant not provided [RCV002464752] Chr11:45914401 [GRCh38]
Chr11:45935952 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.584G>A (p.Arg195Gln) single nucleotide variant Peroxisome biogenesis disorder [RCV002298286] Chr11:45914426 [GRCh38]
Chr11:45935977 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.464G>A (p.Gly155Asp) single nucleotide variant Peroxisome biogenesis disorder [RCV002299072] Chr11:45914681 [GRCh38]
Chr11:45936232 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.574C>T (p.Pro192Ser) single nucleotide variant Peroxisome biogenesis disorder [RCV002726581] Chr11:45914436 [GRCh38]
Chr11:45935987 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.244C>T (p.Leu82=) single nucleotide variant Peroxisome biogenesis disorder [RCV002816073] Chr11:45915818 [GRCh38]
Chr11:45937369 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-10C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002775318] Chr11:45910972 [GRCh38]
Chr11:45932523 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.735C>G (p.Pro245=) single nucleotide variant Peroxisome biogenesis disorder [RCV002993568] Chr11:45914163 [GRCh38]
Chr11:45935714 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.961A>G (p.Met321Val) single nucleotide variant Peroxisome biogenesis disorder [RCV003015588] Chr11:45910304 [GRCh38]
Chr11:45931855 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.1001G>C (p.Ser334Thr) single nucleotide variant Peroxisome biogenesis disorder [RCV002903174] Chr11:45910264 [GRCh38]
Chr11:45931815 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.618G>A (p.Leu206=) single nucleotide variant Peroxisome biogenesis disorder [RCV003032895] Chr11:45914392 [GRCh38]
Chr11:45935943 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.226-16C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002881073] Chr11:45915852 [GRCh38]
Chr11:45937403 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.192C>T (p.Ile64=) single nucleotide variant Peroxisome biogenesis disorder [RCV002819075] Chr11:45916260 [GRCh38]
Chr11:45937811 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.149-9A>G single nucleotide variant Peroxisome biogenesis disorder [RCV003076503] Chr11:45916312 [GRCh38]
Chr11:45937863 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.438A>G (p.Arg146=) single nucleotide variant Peroxisome biogenesis disorder [RCV003017568] Chr11:45915490 [GRCh38]
Chr11:45937041 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.897C>T (p.Ile299=) single nucleotide variant Peroxisome biogenesis disorder [RCV003034072] Chr11:45910953 [GRCh38]
Chr11:45932504 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.978C>G (p.Thr326=) single nucleotide variant Peroxisome biogenesis disorder [RCV002755722] Chr11:45910287 [GRCh38]
Chr11:45931838 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.768-8C>A single nucleotide variant Peroxisome biogenesis disorder [RCV002972540] Chr11:45913946 [GRCh38]
Chr11:45935497 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.359+14G>T single nucleotide variant Peroxisome biogenesis disorder [RCV003074197] Chr11:45915689 [GRCh38]
Chr11:45937240 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.310T>C (p.Trp104Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV003015929] Chr11:45915752 [GRCh38]
Chr11:45937303 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.912G>C (p.Gln304His) single nucleotide variant Peroxisome biogenesis disorder [RCV003014546] Chr11:45910938 [GRCh38]
Chr11:45932489 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.810G>T (p.Glu270Asp) single nucleotide variant Peroxisome biogenesis disorder [RCV003033800] Chr11:45913896 [GRCh38]
Chr11:45935447 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.389G>C (p.Trp130Ser) single nucleotide variant Peroxisome biogenesis disorder [RCV002970703] Chr11:45915539 [GRCh38]
Chr11:45937090 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.424G>A (p.Val142Ile) single nucleotide variant Peroxisome biogenesis disorder [RCV003074694] Chr11:45915504 [GRCh38]
Chr11:45937055 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.933T>G (p.Pro311=) single nucleotide variant Peroxisome biogenesis disorder [RCV002947373] Chr11:45910917 [GRCh38]
Chr11:45932468 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.686T>C (p.Leu229Pro) single nucleotide variant Peroxisome biogenesis disorder [RCV003034930] Chr11:45914324 [GRCh38]
Chr11:45935875 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.888-1G>C single nucleotide variant Peroxisome biogenesis disorder [RCV002775019] Chr11:45910963 [GRCh38]
Chr11:45932514 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.462T>C (p.Asp154=) single nucleotide variant Peroxisome biogenesis disorder [RCV002975950] Chr11:45914683 [GRCh38]
Chr11:45936234 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.919G>A (p.Ala307Thr) single nucleotide variant Peroxisome biogenesis disorder [RCV002927708] Chr11:45910931 [GRCh38]
Chr11:45932482 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.829C>T (p.Arg277Trp) single nucleotide variant Peroxisome biogenesis disorder [RCV002662962] Chr11:45913877 [GRCh38]
Chr11:45935428 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.359+15T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003035670] Chr11:45915688 [GRCh38]
Chr11:45937239 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.654C>T (p.Thr218=) single nucleotide variant Peroxisome biogenesis disorder [RCV003055731] Chr11:45914356 [GRCh38]
Chr11:45935907 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.359+7dup duplication Peroxisome biogenesis disorder [RCV002592120] Chr11:45915695..45915696 [GRCh38]
Chr11:45937246..45937247 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.923A>T (p.Asp308Val) single nucleotide variant Peroxisome biogenesis disorder [RCV002800331] Chr11:45910927 [GRCh38]
Chr11:45932478 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.636C>G (p.Pro212=) single nucleotide variant Peroxisome biogenesis disorder [RCV002696034] Chr11:45914374 [GRCh38]
Chr11:45935925 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.549C>T (p.Ser183=) single nucleotide variant Peroxisome biogenesis disorder [RCV003002410] Chr11:45914461 [GRCh38]
Chr11:45936012 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.778C>T (p.Leu260=) single nucleotide variant Peroxisome biogenesis disorder [RCV003037476] Chr11:45913928 [GRCh38]
Chr11:45935479 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.461-9C>G single nucleotide variant Peroxisome biogenesis disorder [RCV002639029] Chr11:45914693 [GRCh38]
Chr11:45936244 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.54C>T (p.His18=) single nucleotide variant Peroxisome biogenesis disorder [RCV003019842] Chr11:45917758 [GRCh38]
Chr11:45939309 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.119T>A (p.Phe40Tyr) single nucleotide variant Peroxisome biogenesis disorder [RCV002658480] Chr11:45917487 [GRCh38]
Chr11:45939038 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.953-12C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002867265] Chr11:45910324 [GRCh38]
Chr11:45931875 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.221C>T (p.Pro74Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV002976530] Chr11:45916231 [GRCh38]
Chr11:45937782 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.334G>A (p.Val112Ile) single nucleotide variant Peroxisome biogenesis disorder [RCV002913354] Chr11:45915728 [GRCh38]
Chr11:45937279 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.225+15A>G single nucleotide variant Peroxisome biogenesis disorder [RCV003035960] Chr11:45916212 [GRCh38]
Chr11:45937763 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.865C>G (p.Pro289Ala) single nucleotide variant Peroxisome biogenesis disorder [RCV002913432]|not provided [RCV003229925] Chr11:45913841 [GRCh38]
Chr11:45935392 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_004813.4(PEX16):c.673A>G (p.Ile225Val) single nucleotide variant Peroxisome biogenesis disorder [RCV002620325] Chr11:45914337 [GRCh38]
Chr11:45935888 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.953-9C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003080892] Chr11:45910321 [GRCh38]
Chr11:45931872 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.873_874delinsCT (p.Asp292Tyr) indel Peroxisome biogenesis disorder [RCV002824331] Chr11:45913832..45913833 [GRCh38]
Chr11:45935383..45935384 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.643C>T (p.Leu215=) single nucleotide variant Peroxisome biogenesis disorder [RCV003081162] Chr11:45914367 [GRCh38]
Chr11:45935918 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.997T>C (p.Tyr333His) single nucleotide variant Peroxisome biogenesis disorder [RCV002761119] Chr11:45910268 [GRCh38]
Chr11:45931819 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.918G>A (p.Leu306=) single nucleotide variant Peroxisome biogenesis disorder [RCV002870726] Chr11:45910932 [GRCh38]
Chr11:45932483 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.695-14G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002780236] Chr11:45914217 [GRCh38]
Chr11:45935768 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.807G>A (p.Arg269=) single nucleotide variant Peroxisome biogenesis disorder [RCV003043644] Chr11:45913899 [GRCh38]
Chr11:45935450 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.594G>A (p.Arg198=) single nucleotide variant Peroxisome biogenesis disorder [RCV002876639] Chr11:45914416 [GRCh38]
Chr11:45935967 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.437G>A (p.Arg146Lys) single nucleotide variant Peroxisome biogenesis disorder [RCV003059809] Chr11:45915491 [GRCh38]
Chr11:45937042 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.387C>G (p.Leu129=) single nucleotide variant Peroxisome biogenesis disorder [RCV002932313] Chr11:45915541 [GRCh38]
Chr11:45937092 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-3C>A single nucleotide variant Peroxisome biogenesis disorder [RCV003043246] Chr11:45910965 [GRCh38]
Chr11:45932516 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.460+3G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002919175] Chr11:45915465 [GRCh38]
Chr11:45937016 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.878G>A (p.Arg293His) single nucleotide variant Peroxisome biogenesis disorder [RCV003022342] Chr11:45913828 [GRCh38]
Chr11:45935379 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.113-15G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002766433] Chr11:45917508 [GRCh38]
Chr11:45939059 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp) single nucleotide variant Inborn genetic diseases [RCV003022418]|Peroxisome biogenesis disorder [RCV003041607] Chr11:45914182 [GRCh38]
Chr11:45935733 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.112+5C>A single nucleotide variant Peroxisome biogenesis disorder [RCV002625237] Chr11:45917695 [GRCh38]
Chr11:45939246 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.535C>T (p.Gln179Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV002851073] Chr11:45914610 [GRCh38]
Chr11:45936161 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.319G>A (p.Val107Met) single nucleotide variant Peroxisome biogenesis disorder [RCV002700510] Chr11:45915743 [GRCh38]
Chr11:45937294 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.149-3C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003024400] Chr11:45916306 [GRCh38]
Chr11:45937857 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.460+9C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002851823] Chr11:45915459 [GRCh38]
Chr11:45937010 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.860G>A (p.Arg287His) single nucleotide variant Peroxisome biogenesis disorder [RCV002625702] Chr11:45913846 [GRCh38]
Chr11:45935397 [GRCh37]
Chr11:11p11.2		 pathogenic|likely pathogenic
NM_004813.4(PEX16):c.228G>A (p.Ser76=) single nucleotide variant Peroxisome biogenesis disorder [RCV003005392] Chr11:45915834 [GRCh38]
Chr11:45937385 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.369G>A (p.Leu123=) single nucleotide variant Peroxisome biogenesis disorder [RCV002805630] Chr11:45915559 [GRCh38]
Chr11:45937110 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn) single nucleotide variant Peroxisome biogenesis disorder [RCV002595313] Chr11:45910264 [GRCh38]
Chr11:45931815 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.953-12C>G single nucleotide variant Peroxisome biogenesis disorder [RCV002644337] Chr11:45910324 [GRCh38]
Chr11:45931875 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-11G>C single nucleotide variant Peroxisome biogenesis disorder [RCV002876378] Chr11:45910973 [GRCh38]
Chr11:45932524 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-18A>G single nucleotide variant Peroxisome biogenesis disorder [RCV003058036] Chr11:45915586 [GRCh38]
Chr11:45937137 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.695-13C>A single nucleotide variant Peroxisome biogenesis disorder [RCV003022684] Chr11:45914216 [GRCh38]
Chr11:45935767 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.461-16T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003006094] Chr11:45914700 [GRCh38]
Chr11:45936251 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.312G>A (p.Trp104Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV003057397] Chr11:45915750 [GRCh38]
Chr11:45937301 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.419C>A (p.Pro140His) single nucleotide variant Peroxisome biogenesis disorder [RCV002890626] Chr11:45915509 [GRCh38]
Chr11:45937060 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.767+16C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002801761] Chr11:45914115 [GRCh38]
Chr11:45935666 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.834C>T (p.Thr278=) single nucleotide variant Peroxisome biogenesis disorder [RCV003005762] Chr11:45913872 [GRCh38]
Chr11:45935423 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.927C>T (p.His309=) single nucleotide variant Peroxisome biogenesis disorder [RCV002894151] Chr11:45910923 [GRCh38]
Chr11:45932474 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.903C>T (p.Phe301=) single nucleotide variant Peroxisome biogenesis disorder [RCV002765801] Chr11:45910947 [GRCh38]
Chr11:45932498 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.225+18A>G single nucleotide variant Peroxisome biogenesis disorder [RCV003023623] Chr11:45916209 [GRCh38]
Chr11:45937760 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.953-5T>A single nucleotide variant Peroxisome biogenesis disorder [RCV003044444] Chr11:45910317 [GRCh38]
Chr11:45931868 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.700A>G (p.Ser234Gly) single nucleotide variant Peroxisome biogenesis disorder [RCV003048192] Chr11:45914198 [GRCh38]
Chr11:45935749 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.12G>T (p.Leu4=) single nucleotide variant Peroxisome biogenesis disorder [RCV002791913] Chr11:45917800 [GRCh38]
Chr11:45939351 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.778C>A (p.Leu260Met) single nucleotide variant Peroxisome biogenesis disorder [RCV003045737] Chr11:45913928 [GRCh38]
Chr11:45935479 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.461-6T>A single nucleotide variant Peroxisome biogenesis disorder [RCV002806366] Chr11:45914690 [GRCh38]
Chr11:45936241 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.585G>A (p.Arg195=) single nucleotide variant Peroxisome biogenesis disorder [RCV002967120] Chr11:45914425 [GRCh38]
Chr11:45935976 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.684G>T (p.Pro228=) single nucleotide variant Peroxisome biogenesis disorder [RCV002834082] Chr11:45914326 [GRCh38]
Chr11:45935877 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del) deletion Peroxisome biogenesis disorder [RCV002675994] Chr11:45910266..45910271 [GRCh38]
Chr11:45931817..45931822 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.461-15G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002649797] Chr11:45914699 [GRCh38]
Chr11:45936250 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.798G>A (p.Leu266=) single nucleotide variant Peroxisome biogenesis disorder [RCV003089615] Chr11:45913908 [GRCh38]
Chr11:45935459 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.887+8C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003010268] Chr11:45913811 [GRCh38]
Chr11:45935362 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.112+9C>G single nucleotide variant Peroxisome biogenesis disorder [RCV003029386] Chr11:45917691 [GRCh38]
Chr11:45939242 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.112+5C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003045939] Chr11:45917695 [GRCh38]
Chr11:45939246 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.527G>A (p.Arg176Gln) single nucleotide variant Peroxisome biogenesis disorder [RCV002716997] Chr11:45914618 [GRCh38]
Chr11:45936169 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.695-18dup duplication Peroxisome biogenesis disorder [RCV002806910] Chr11:45914220..45914221 [GRCh38]
Chr11:45935771..45935772 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.485A>G (p.His162Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV002922203] Chr11:45914660 [GRCh38]
Chr11:45936211 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.637C>G (p.Leu213Val) single nucleotide variant Peroxisome biogenesis disorder [RCV002811288] Chr11:45914373 [GRCh38]
Chr11:45935924 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.339C>T (p.Ile113=) single nucleotide variant PEX16-related condition [RCV003936583]|Peroxisome biogenesis disorder [RCV002599114] Chr11:45915723 [GRCh38]
Chr11:45937274 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_004813.4(PEX16):c.193C>T (p.Leu65=) single nucleotide variant Peroxisome biogenesis disorder [RCV002745938] Chr11:45916259 [GRCh38]
Chr11:45937810 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.653C>A (p.Thr218Asn) single nucleotide variant Peroxisome biogenesis disorder [RCV003009283] Chr11:45914357 [GRCh38]
Chr11:45935908 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.13C>A (p.Arg5=) single nucleotide variant Peroxisome biogenesis disorder [RCV003047993] Chr11:45917799 [GRCh38]
Chr11:45939350 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.10C>T (p.Leu4=) single nucleotide variant Peroxisome biogenesis disorder [RCV002899342] Chr11:45917802 [GRCh38]
Chr11:45939353 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.488A>G (p.Glu163Gly) single nucleotide variant Peroxisome biogenesis disorder [RCV003031725] Chr11:45914657 [GRCh38]
Chr11:45936208 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.635C>T (p.Pro212Leu) single nucleotide variant Peroxisome biogenesis disorder [RCV003043719] Chr11:45914375 [GRCh38]
Chr11:45935926 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.442A>T (p.Thr148Ser) single nucleotide variant Peroxisome biogenesis disorder [RCV002962902] Chr11:45915486 [GRCh38]
Chr11:45937037 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.149-14T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003044192] Chr11:45916317 [GRCh38]
Chr11:45937868 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.542-15G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003010425] Chr11:45914483 [GRCh38]
Chr11:45936034 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu) single nucleotide variant Inborn genetic diseases [RCV002630993]|Peroxisome biogenesis disorder [RCV002630992] Chr11:45914426 [GRCh38]
Chr11:45935977 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.225+3G>A single nucleotide variant Peroxisome biogenesis disorder [RCV002944320] Chr11:45916224 [GRCh38]
Chr11:45937775 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.98G>C (p.Ser33Thr) single nucleotide variant Peroxisome biogenesis disorder [RCV003092606] Chr11:45917714 [GRCh38]
Chr11:45939265 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.936C>T (p.Gly312=) single nucleotide variant Peroxisome biogenesis disorder [RCV002586884] Chr11:45910914 [GRCh38]
Chr11:45932465 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.493T>C (p.Ser165Pro) single nucleotide variant Peroxisome biogenesis disorder [RCV003070871] Chr11:45914652 [GRCh38]
Chr11:45936203 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.873_874inv (p.Asp292Asn) inversion Peroxisome biogenesis disorder [RCV002612797] Chr11:45913832..45913833 [GRCh38]
Chr11:45935383..45935384 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.666T>C (p.Phe222=) single nucleotide variant Peroxisome biogenesis disorder [RCV002611128] Chr11:45914344 [GRCh38]
Chr11:45935895 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.149-7C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002611227] Chr11:45916310 [GRCh38]
Chr11:45937861 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+6C>T single nucleotide variant Peroxisome biogenesis disorder [RCV002680939] Chr11:45910892 [GRCh38]
Chr11:45932443 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly) single nucleotide variant Peroxisome biogenesis disorder 8B [RCV003229529] Chr11:45914331 [GRCh38]
Chr11:45935882 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.814C>G (p.Arg272Gly) single nucleotide variant Inborn genetic diseases [RCV003304794] Chr11:45913892 [GRCh38]
Chr11:45935443 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.952+3A>G single nucleotide variant Peroxisome biogenesis disorder 8B [RCV003328136] Chr11:45910895 [GRCh38]
Chr11:45932446 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.542C>T (p.Thr181Met) single nucleotide variant PEX16-related condition [RCV003419257] Chr11:45914468 [GRCh38]
Chr11:45936019 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.238C>G (p.Gln80Glu) single nucleotide variant Inborn genetic diseases [RCV003373558] Chr11:45915824 [GRCh38]
Chr11:45937375 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.862T>A (p.Ser288Thr) single nucleotide variant Inborn genetic diseases [RCV003371585] Chr11:45913844 [GRCh38]
Chr11:45935395 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.359+1G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003873896] Chr11:45915702 [GRCh38]
Chr11:45937253 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.936C>G (p.Gly312=) single nucleotide variant Peroxisome biogenesis disorder [RCV003874722] Chr11:45910914 [GRCh38]
Chr11:45932465 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.620G>C (p.Ser207Thr) single nucleotide variant PEX16-related condition [RCV003400226] Chr11:45914390 [GRCh38]
Chr11:45935941 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.311G>A (p.Trp104Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV003530837] Chr11:45915751 [GRCh38]
Chr11:45937302 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.684G>C (p.Pro228=) single nucleotide variant PEX16-related condition [RCV003946730]|Peroxisome biogenesis disorder [RCV003530973] Chr11:45914326 [GRCh38]
Chr11:45935877 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.681G>A (p.Arg227=) single nucleotide variant PEX16-related condition [RCV003966526]|Peroxisome biogenesis disorder [RCV003530974] Chr11:45914329 [GRCh38]
Chr11:45935880 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.541+12A>T single nucleotide variant Peroxisome biogenesis disorder [RCV003530975] Chr11:45914592 [GRCh38]
Chr11:45936143 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.58del (p.Ala20fs) deletion Peroxisome biogenesis disorder [RCV003646350] Chr11:45917754 [GRCh38]
Chr11:45939305 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.360-16A>C single nucleotide variant Peroxisome biogenesis disorder [RCV003646366] Chr11:45915584 [GRCh38]
Chr11:45937135 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.430C>T (p.Leu144=) single nucleotide variant Peroxisome biogenesis disorder [RCV003530979] Chr11:45915498 [GRCh38]
Chr11:45937049 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.825G>A (p.Arg275=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646386] Chr11:45913881 [GRCh38]
Chr11:45935432 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-6A>T single nucleotide variant Peroxisome biogenesis disorder [RCV003646392] Chr11:45915574 [GRCh38]
Chr11:45937125 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.767+8T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003646403] Chr11:45914123 [GRCh38]
Chr11:45935674 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.461-17C>A single nucleotide variant Peroxisome biogenesis disorder [RCV003646423] Chr11:45914701 [GRCh38]
Chr11:45936252 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.306G>A (p.Lys102=) single nucleotide variant Peroxisome biogenesis disorder [RCV003530596] Chr11:45915756 [GRCh38]
Chr11:45937307 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.226-6T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003530612] Chr11:45915842 [GRCh38]
Chr11:45937393 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.972G>A (p.Leu324=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646664] Chr11:45910293 [GRCh38]
Chr11:45931844 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.810G>A (p.Glu270=) single nucleotide variant Peroxisome biogenesis disorder [RCV003530716] Chr11:45913896 [GRCh38]
Chr11:45935447 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-11C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003530894] Chr11:45915579 [GRCh38]
Chr11:45937130 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.112+20T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003646753] Chr11:45917680 [GRCh38]
Chr11:45939231 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.149-2A>G single nucleotide variant Peroxisome biogenesis disorder [RCV003529837] Chr11:45916305 [GRCh38]
Chr11:45937856 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.148+18G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003530640] Chr11:45917440 [GRCh38]
Chr11:45938991 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.226-2A>C single nucleotide variant Peroxisome biogenesis disorder [RCV003530653] Chr11:45915838 [GRCh38]
Chr11:45937389 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_004813.4(PEX16):c.541+15T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003530668] Chr11:45914589 [GRCh38]
Chr11:45936140 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.953-8C>T single nucleotide variant PEX16-related condition [RCV003893349]|Peroxisome biogenesis disorder [RCV003647140] Chr11:45910320 [GRCh38]
Chr11:45931871 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.461-15G>T single nucleotide variant Peroxisome biogenesis disorder [RCV003530527] Chr11:45914699 [GRCh38]
Chr11:45936250 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.113-10C>G single nucleotide variant Peroxisome biogenesis disorder [RCV003530940] Chr11:45917503 [GRCh38]
Chr11:45939054 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.541+20G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003530541] Chr11:45914584 [GRCh38]
Chr11:45936135 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.156T>C (p.Ser52=) single nucleotide variant Peroxisome biogenesis disorder [RCV003530550] Chr11:45916296 [GRCh38]
Chr11:45937847 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.595C>T (p.Gln199Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV003530784] Chr11:45914415 [GRCh38]
Chr11:45935966 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.703C>T (p.Leu235=) single nucleotide variant Peroxisome biogenesis disorder [RCV003529864] Chr11:45914195 [GRCh38]
Chr11:45935746 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.828C>T (p.Arg276=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646095] Chr11:45913878 [GRCh38]
Chr11:45935429 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.148+19G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003646908] Chr11:45917439 [GRCh38]
Chr11:45938990 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.120C>T (p.Phe40=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646336] Chr11:45917486 [GRCh38]
Chr11:45939037 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.542-12C>A single nucleotide variant Peroxisome biogenesis disorder [RCV003646387] Chr11:45914480 [GRCh38]
Chr11:45936031 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.732A>G (p.Lys244=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646482] Chr11:45914166 [GRCh38]
Chr11:45935717 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.148+18G>T single nucleotide variant Peroxisome biogenesis disorder [RCV003646619] Chr11:45917440 [GRCh38]
Chr11:45938991 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.695-4T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003646620] Chr11:45914207 [GRCh38]
Chr11:45935758 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.549C>A (p.Ser183=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646631] Chr11:45914461 [GRCh38]
Chr11:45936012 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-15T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003646645] Chr11:45915583 [GRCh38]
Chr11:45937134 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.359+16G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003646453] Chr11:45915687 [GRCh38]
Chr11:45937238 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.630C>T (p.Pro210=) single nucleotide variant Peroxisome biogenesis disorder [RCV003647114] Chr11:45914380 [GRCh38]
Chr11:45935931 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.129G>A (p.Ser43=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646050] Chr11:45917477 [GRCh38]
Chr11:45939028 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.148+10G>C single nucleotide variant Peroxisome biogenesis disorder [RCV003646112] Chr11:45917448 [GRCh38]
Chr11:45938999 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.113-11C>G single nucleotide variant Peroxisome biogenesis disorder [RCV003646737] Chr11:45917504 [GRCh38]
Chr11:45939055 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.57G>A (p.Pro19=) single nucleotide variant Peroxisome biogenesis disorder [RCV003530403] Chr11:45917755 [GRCh38]
Chr11:45939306 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.93C>T (p.Gly31=) single nucleotide variant Peroxisome biogenesis disorder [RCV003647217] Chr11:45917719 [GRCh38]
Chr11:45939270 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.825G>T (p.Arg275=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646018] Chr11:45913881 [GRCh38]
Chr11:45935432 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.113-18T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003646025] Chr11:45917511 [GRCh38]
Chr11:45939062 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.953-20G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003646063] Chr11:45910332 [GRCh38]
Chr11:45931883 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.489G>A (p.Glu163=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646730] Chr11:45914656 [GRCh38]
Chr11:45936207 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.461-12_461-9del deletion Peroxisome biogenesis disorder [RCV003529809] Chr11:45914693..45914696 [GRCh38]
Chr11:45936244..45936247 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.801C>G (p.Thr267=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646146] Chr11:45913905 [GRCh38]
Chr11:45935456 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.675T>C (p.Ile225=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646259] Chr11:45914335 [GRCh38]
Chr11:45935886 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+9G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003529819] Chr11:45910889 [GRCh38]
Chr11:45932440 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.768-20_768-18del deletion Peroxisome biogenesis disorder [RCV003529856] Chr11:45913956..45913958 [GRCh38]
Chr11:45935507..45935509 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+12T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003529873] Chr11:45910886 [GRCh38]
Chr11:45932437 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.148+13C>G single nucleotide variant Peroxisome biogenesis disorder [RCV003646341] Chr11:45917445 [GRCh38]
Chr11:45938996 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.225+16A>G single nucleotide variant Peroxisome biogenesis disorder [RCV003646368] Chr11:45916211 [GRCh38]
Chr11:45937762 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.370C>A (p.Arg124=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646979] Chr11:45915558 [GRCh38]
Chr11:45937109 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.945G>C (p.Leu315=) single nucleotide variant Peroxisome biogenesis disorder [RCV003529896] Chr11:45910905 [GRCh38]
Chr11:45932456 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-9C>A single nucleotide variant Peroxisome biogenesis disorder [RCV003646375] Chr11:45910971 [GRCh38]
Chr11:45932522 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.699C>G (p.Leu233=) single nucleotide variant Peroxisome biogenesis disorder [RCV003530331] Chr11:45914199 [GRCh38]
Chr11:45935750 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.113-21_113-19del microsatellite Peroxisome biogenesis disorder [RCV003828103] Chr11:45917512..45917514 [GRCh38]
Chr11:45939063..45939065 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.129G>T (p.Ser43=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646433] Chr11:45917477 [GRCh38]
Chr11:45939028 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.149-11C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003647033] Chr11:45916314 [GRCh38]
Chr11:45937865 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.226-21_226-19del microsatellite Peroxisome biogenesis disorder [RCV003530347] Chr11:45915855..45915857 [GRCh38]
Chr11:45937406..45937408 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.695-7C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003646494] Chr11:45914210 [GRCh38]
Chr11:45935761 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.935G>T (p.Gly312Val) single nucleotide variant Peroxisome biogenesis disorder [RCV003646498] Chr11:45910915 [GRCh38]
Chr11:45932466 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.276G>C (p.Val92=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646503] Chr11:45915786 [GRCh38]
Chr11:45937337 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.933T>A (p.Pro311=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646516] Chr11:45910917 [GRCh38]
Chr11:45932468 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.767+7_767+10dup duplication Peroxisome biogenesis disorder [RCV003646407] Chr11:45914120..45914121 [GRCh38]
Chr11:45935671..45935672 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.817G>T (p.Glu273Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV003646551] Chr11:45913889 [GRCh38]
Chr11:45935440 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.113-18_113-16del deletion Peroxisome biogenesis disorder [RCV003646556] Chr11:45917509..45917511 [GRCh38]
Chr11:45939060..45939062 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.942C>A (p.Gly314=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646585] Chr11:45910908 [GRCh38]
Chr11:45932459 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.138G>A (p.Leu46=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646335] Chr11:45917468 [GRCh38]
Chr11:45939019 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.767+20G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003646359] Chr11:45914111 [GRCh38]
Chr11:45935662 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.742T>C (p.Leu248=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646661] Chr11:45914156 [GRCh38]
Chr11:45935707 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.913T>C (p.Leu305=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646666] Chr11:45910937 [GRCh38]
Chr11:45932488 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.238C>T (p.Gln80Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV003646682] Chr11:45915824 [GRCh38]
Chr11:45937375 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.767+15G>T single nucleotide variant Peroxisome biogenesis disorder [RCV003646443] Chr11:45914116 [GRCh38]
Chr11:45935667 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.855G>C (p.Leu285=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646502] Chr11:45913851 [GRCh38]
Chr11:45935402 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.942C>T (p.Gly314=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646471] Chr11:45910908 [GRCh38]
Chr11:45932459 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.149-15C>G single nucleotide variant Peroxisome biogenesis disorder [RCV003646538] Chr11:45916318 [GRCh38]
Chr11:45937869 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.360-17C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003646707] Chr11:45915585 [GRCh38]
Chr11:45937136 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.379C>T (p.Leu127=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646702] Chr11:45915549 [GRCh38]
Chr11:45937100 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.966T>C (p.Asp322=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646542] Chr11:45910299 [GRCh38]
Chr11:45931850 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.149-15CT[2] microsatellite Peroxisome biogenesis disorder [RCV003646775] Chr11:45916313..45916314 [GRCh38]
Chr11:45937864..45937865 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.564C>T (p.His188=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646788] Chr11:45914446 [GRCh38]
Chr11:45935997 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.19C>T (p.Leu7=) single nucleotide variant Peroxisome biogenesis disorder [RCV003645998] Chr11:45917793 [GRCh38]
Chr11:45939344 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.953-15C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003646054] Chr11:45910327 [GRCh38]
Chr11:45931878 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.541+14G>A single nucleotide variant Peroxisome biogenesis disorder [RCV003646062] Chr11:45914590 [GRCh38]
Chr11:45936141 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.900C>T (p.Leu300=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646145] Chr11:45910950 [GRCh38]
Chr11:45932501 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.627C>T (p.Thr209=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646183] Chr11:45914383 [GRCh38]
Chr11:45935934 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.633C>G (p.Thr211=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646182] Chr11:45914377 [GRCh38]
Chr11:45935928 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.177G>C (p.Leu59=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646087] Chr11:45916275 [GRCh38]
Chr11:45937826 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.603G>A (p.Gln201=) single nucleotide variant Peroxisome biogenesis disorder [RCV003825443] Chr11:45914407 [GRCh38]
Chr11:45935958 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.237G>A (p.Gln79=) single nucleotide variant Peroxisome biogenesis disorder [RCV003646360] Chr11:45915825 [GRCh38]
Chr11:45937376 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-14A>G single nucleotide variant Peroxisome biogenesis disorder [RCV003530988] Chr11:45910976 [GRCh38]
Chr11:45932527 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.887+10C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003531199] Chr11:45913809 [GRCh38]
Chr11:45935360 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.783T>A (p.Ser261Arg) single nucleotide variant Peroxisome biogenesis disorder [RCV003531277] Chr11:45913923 [GRCh38]
Chr11:45935474 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_004813.4(PEX16):c.258G>C (p.Leu86=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531297] Chr11:45915804 [GRCh38]
Chr11:45937355 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.226-8del deletion Peroxisome biogenesis disorder [RCV003531366] Chr11:45915844 [GRCh38]
Chr11:45937395 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.705G>C (p.Leu235=) single nucleotide variant Peroxisome biogenesis disorder [RCV003811231] Chr11:45914193 [GRCh38]
Chr11:45935744 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.113-9T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003531140] Chr11:45917502 [GRCh38]
Chr11:45939053 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.685C>T (p.Leu229=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531147] Chr11:45914325 [GRCh38]
Chr11:45935876 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+19G>C single nucleotide variant Peroxisome biogenesis disorder [RCV003531151] Chr11:45910879 [GRCh38]
Chr11:45932430 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.891C>G (p.Ala297=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531160] Chr11:45910959 [GRCh38]
Chr11:45932510 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.953-4G>T single nucleotide variant Peroxisome biogenesis disorder [RCV003531226] Chr11:45910316 [GRCh38]
Chr11:45931867 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.948C>T (p.Val316=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531382] Chr11:45910902 [GRCh38]
Chr11:45932453 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.887+14A>G single nucleotide variant Peroxisome biogenesis disorder [RCV003531076] Chr11:45913805 [GRCh38]
Chr11:45935356 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.633C>A (p.Thr211=) single nucleotide variant Peroxisome biogenesis disorder [RCV003836620] Chr11:45914377 [GRCh38]
Chr11:45935928 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.492G>A (p.Gln164=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531293] Chr11:45914653 [GRCh38]
Chr11:45936204 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.636C>A (p.Pro212=) single nucleotide variant Peroxisome biogenesis disorder [RCV003833363] Chr11:45914374 [GRCh38]
Chr11:45935925 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.106C>T (p.Leu36=) single nucleotide variant Peroxisome biogenesis disorder [RCV003850980] Chr11:45917706 [GRCh38]
Chr11:45939257 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.767+14T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003531045] Chr11:45914117 [GRCh38]
Chr11:45935668 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.542-20C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003832842] Chr11:45914488 [GRCh38]
Chr11:45936039 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.786C>T (p.Asp262=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531010] Chr11:45913920 [GRCh38]
Chr11:45935471 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.153C>T (p.Tyr51=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531316] Chr11:45916299 [GRCh38]
Chr11:45937850 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.468C>T (p.Asp156=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531346] Chr11:45914677 [GRCh38]
Chr11:45936228 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.729G>A (p.Trp243Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV003531377] Chr11:45914169 [GRCh38]
Chr11:45935720 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.460+19C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003814723] Chr11:45915449 [GRCh38]
Chr11:45937000 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.767+20G>T single nucleotide variant Peroxisome biogenesis disorder [RCV003836125] Chr11:45914111 [GRCh38]
Chr11:45935662 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.952+20C>G single nucleotide variant Peroxisome biogenesis disorder [RCV003531156] Chr11:45910878 [GRCh38]
Chr11:45932429 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.921C>G (p.Ala307=) single nucleotide variant Peroxisome biogenesis disorder [RCV003531193] Chr11:45910929 [GRCh38]
Chr11:45932480 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.768-14T>A single nucleotide variant Peroxisome biogenesis disorder [RCV003838731] Chr11:45913952 [GRCh38]
Chr11:45935503 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.771G>A (p.Leu257=) single nucleotide variant PEX16-related condition [RCV003966729]|Peroxisome biogenesis disorder [RCV003861208] Chr11:45913935 [GRCh38]
Chr11:45935486 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.714G>A (p.Trp238Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV003860307] Chr11:45914184 [GRCh38]
Chr11:45935735 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.512C>A (p.Ser171Ter) single nucleotide variant Peroxisome biogenesis disorder [RCV003859811] Chr11:45914633 [GRCh38]
Chr11:45936184 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_004813.4(PEX16):c.113-20C>T single nucleotide variant Peroxisome biogenesis disorder [RCV003857750] Chr11:45917513 [GRCh38]
Chr11:45939064 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.460+16A>C single nucleotide variant Peroxisome biogenesis disorder [RCV003864897] Chr11:45915452 [GRCh38]
Chr11:45937003 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.542-12C>G single nucleotide variant Peroxisome biogenesis disorder [RCV003821406] Chr11:45914480 [GRCh38]
Chr11:45936031 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.113-6C>A single nucleotide variant Peroxisome biogenesis disorder [RCV003841220] Chr11:45917499 [GRCh38]
Chr11:45939050 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-17T>C single nucleotide variant Peroxisome biogenesis disorder [RCV003866785] Chr11:45910979 [GRCh38]
Chr11:45932530 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.792G>A (p.Lys264=) single nucleotide variant Peroxisome biogenesis disorder [RCV003861124] Chr11:45913914 [GRCh38]
Chr11:45935465 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.*170G>A single nucleotide variant PEX16-related condition [RCV003894518] Chr11:45910084 [GRCh38]
Chr11:45931635 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.888-4C>G single nucleotide variant PEX16-related condition [RCV003983427] Chr11:45910966 [GRCh38]
Chr11:45932517 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.*123A>G single nucleotide variant PEX16-related condition [RCV003896586] Chr11:45910131 [GRCh38]
Chr11:45931682 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.*1C>T single nucleotide variant PEX16-related condition [RCV003897254] Chr11:45910253 [GRCh38]
Chr11:45931804 [GRCh37]
Chr11:11p11.2		 likely benign
NM_004813.4(PEX16):c.*78G>A single nucleotide variant PEX16-related condition [RCV003913847] Chr11:45910176 [GRCh38]
Chr11:45931727 [GRCh37]
Chr11:11p11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4096
Count of miRNA genes:987
Interacting mature miRNAs:1223
Transcripts:ENST00000241041, ENST00000378750, ENST00000523721, ENST00000525192, ENST00000525229, ENST00000527371, ENST00000528674, ENST00000529030, ENST00000532554, ENST00000532681, ENST00000533151
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2203 1846 1651 557 1667 405 3616 934 3253 366 1422 1512 165 1133 2065 3
Low 236 1145 75 67 283 60 740 1263 481 53 38 101 10 1 71 723 3 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_057174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB016531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF118240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM746616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN285513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000241041   ⟹   ENSP00000241041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,909,669 - 45,917,829 (-)Ensembl
RefSeq Acc Id: ENST00000378750   ⟹   ENSP00000368024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,909,663 - 45,917,877 (-)Ensembl
RefSeq Acc Id: ENST00000523721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,910,170 - 45,912,015 (-)Ensembl
RefSeq Acc Id: ENST00000525192   ⟹   ENSP00000431309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,914,131 - 45,918,021 (-)Ensembl
RefSeq Acc Id: ENST00000525229   ⟹   ENSP00000431132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,915,469 - 45,917,828 (-)Ensembl
RefSeq Acc Id: ENST00000527371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,914,264 - 45,915,543 (-)Ensembl
RefSeq Acc Id: ENST00000528674   ⟹   ENSP00000434060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,915,496 - 45,918,080 (-)Ensembl
RefSeq Acc Id: ENST00000529030   ⟹   ENSP00000432486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,915,703 - 45,918,078 (-)Ensembl
RefSeq Acc Id: ENST00000532554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,914,123 - 45,917,867 (-)Ensembl
RefSeq Acc Id: ENST00000532681   ⟹   ENSP00000434654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,910,205 - 45,918,812 (-)Ensembl
RefSeq Acc Id: ENST00000533151   ⟹   ENSP00000433045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,913,845 - 45,917,825 (-)Ensembl
RefSeq Acc Id: NM_004813   ⟹   NP_004804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,909,663 - 45,917,877 (-)NCBI
GRCh371145,931,220 - 45,939,674 (-)ENTREZGENE
Build 361145,888,301 - 45,896,182 (-)NCBI Archive
HuRef1145,638,073 - 45,646,496 (-)ENTREZGENE
CHM1_11145,928,639 - 45,937,093 (-)NCBI
T2T-CHM13v2.01146,065,593 - 46,073,804 (-)NCBI
Sequence:
RefSeq Acc Id: NM_057174   ⟹   NP_476515
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,909,663 - 45,917,877 (-)NCBI
GRCh371145,931,220 - 45,939,674 (-)ENTREZGENE
Build 361145,887,796 - 45,896,182 (-)NCBI Archive
HuRef1145,638,073 - 45,646,496 (-)ENTREZGENE
CHM1_11145,928,639 - 45,937,093 (-)NCBI
T2T-CHM13v2.01146,065,593 - 46,073,804 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427886   ⟹   XP_047283842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,909,663 - 45,918,822 (-)NCBI
RefSeq Acc Id: XM_047427887   ⟹   XP_047283843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,909,663 - 45,917,877 (-)NCBI
RefSeq Acc Id: XM_047427888   ⟹   XP_047283844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,909,663 - 45,918,822 (-)NCBI
RefSeq Acc Id: XM_054370541   ⟹   XP_054226516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01146,065,593 - 46,073,804 (-)NCBI
RefSeq Acc Id: XM_054370542   ⟹   XP_054226517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01146,065,593 - 46,074,744 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_476515   ⟸   NM_057174
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_004804   ⟸   NM_004813
- Peptide Label: isoform 1
- UniProtKB: Q9Y5Y5 (UniProtKB/Swiss-Prot),   Q9BWB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000241041   ⟸   ENST00000241041
RefSeq Acc Id: ENSP00000434654   ⟸   ENST00000532681
RefSeq Acc Id: ENSP00000433045   ⟸   ENST00000533151
RefSeq Acc Id: ENSP00000368024   ⟸   ENST00000378750
RefSeq Acc Id: ENSP00000431132   ⟸   ENST00000525229
RefSeq Acc Id: ENSP00000431309   ⟸   ENST00000525192
RefSeq Acc Id: ENSP00000434060   ⟸   ENST00000528674
RefSeq Acc Id: ENSP00000432486   ⟸   ENST00000529030
RefSeq Acc Id: XP_047283844   ⟸   XM_047427888
- Peptide Label: isoform X2
- UniProtKB: E9PP98 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283842   ⟸   XM_047427886
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047283843   ⟸   XM_047427887
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054226517   ⟸   XM_054370542
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054226516   ⟸   XM_054370541
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5Y5-F1-model_v2 AlphaFold Q9Y5Y5 1-336 view protein structure

Promoters
RGD ID:6789224
Promoter ID:HG_KWN:12746
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004813,   UC001NBT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361145,895,951 - 45,896,937 (-)MPROMDB
RGD ID:7220153
Promoter ID:EPDNEW_H15822
Type:initiation region
Name:PEX16_1
Description:peroxisomal biogenesis factor 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15823  EPDNEW_H15825  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,917,843 - 45,917,903EPDNEW
RGD ID:7220155
Promoter ID:EPDNEW_H15823
Type:initiation region
Name:PEX16_2
Description:peroxisomal biogenesis factor 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15822  EPDNEW_H15825  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,918,021 - 45,918,081EPDNEW
RGD ID:7220159
Promoter ID:EPDNEW_H15825
Type:initiation region
Name:PEX16_3
Description:peroxisomal biogenesis factor 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15822  EPDNEW_H15823  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,923,337 - 45,923,397EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8857 AgrOrtholog
COSMIC PEX16 COSMIC
Ensembl Genes ENSG00000121680 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000241041 ENTREZGENE
  ENST00000241041.7 UniProtKB/Swiss-Prot
  ENST00000378750 ENTREZGENE
  ENST00000378750.10 UniProtKB/Swiss-Prot
  ENST00000525192.5 UniProtKB/TrEMBL
  ENST00000525229.5 UniProtKB/TrEMBL
  ENST00000528674.5 UniProtKB/TrEMBL
  ENST00000529030.1 UniProtKB/TrEMBL
  ENST00000532681 ENTREZGENE
  ENST00000532681.5 UniProtKB/TrEMBL
  ENST00000533151.5 UniProtKB/TrEMBL
GTEx ENSG00000121680 GTEx
HGNC ID HGNC:8857 ENTREZGENE
Human Proteome Map PEX16 Human Proteome Map
InterPro Pex16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9409 UniProtKB/Swiss-Prot
NCBI Gene 9409 ENTREZGENE
OMIM 603360 OMIM
PANTHER PEROXISOMAL MEMBRANE PROTEIN PEX16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13299 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pex16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33199 PharmGKB
UniProt E9PLS4_HUMAN UniProtKB/TrEMBL
  E9PMM3_HUMAN UniProtKB/TrEMBL
  E9PMS3_HUMAN UniProtKB/TrEMBL
  E9PP98 ENTREZGENE, UniProtKB/TrEMBL
  E9PQW0_HUMAN UniProtKB/TrEMBL
  E9PSC6_HUMAN UniProtKB/TrEMBL
  PEX16_HUMAN UniProtKB/Swiss-Prot
  Q9BWB9 ENTREZGENE
  Q9Y5Y5 ENTREZGENE
UniProt Secondary Q9BWB9 UniProtKB/Swiss-Prot