PEX11B (peroxisomal biogenesis factor 11 beta) - Rat Genome Database

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Gene: PEX11B (peroxisomal biogenesis factor 11 beta) Homo sapiens
Analyze
Symbol: PEX11B
Name: peroxisomal biogenesis factor 11 beta
RGD ID: 1321208
HGNC Page HGNC:8853
Description: Enables protein homodimerization activity. Involved in peroxisome fission and regulation of peroxisome size. Located in nucleoplasm and peroxisomal membrane. Part of protein-containing complex. Implicated in peroxisome biogenesis disorder 14B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: peroxin-11B; peroxisomal biogenesis factor 11B; peroxisomal membrane protein 11B; PEX11-BETA; PEX11beta; PEX14B; protein PEX11 homolog beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh381145,911,348 - 145,918,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,911,350 - 145,918,717 (-)EnsemblGRCh38hg38GRCh38
GRCh371145,516,372 - 145,523,732 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,227,740 - 144,235,088 (+)NCBINCBI36Build 36hg18NCBI36
Build 341143,005,426 - 143,012,775NCBI
Celera1119,719,522 - 119,727,100 (+)NCBICelera
Cytogenetic Map1q21.1NCBI
HuRef1119,479,859 - 119,487,437 (+)NCBIHuRef
CHM1_11147,279,474 - 147,287,050 (-)NCBICHM1_1
T2T-CHM13v2.01145,028,165 - 145,035,536 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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)
Anteverted nares  (IAGP)
Areflexia  (IAGP)
Areflexia of lower limbs  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Brushfield spots  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Chiari type I malformation  (IAGP)
Clitoral hypertrophy  (IAGP)
Cognitive impairment  (IAGP)
Constriction of peripheral visual field  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Dolichocephaly  (IAGP)
Dry skin  (IAGP)
EEG abnormality  (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)
Gastrointestinal stroma tumor  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hearing impairment  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hydrocele testis  (IAGP)
Hydronephrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Jaundice  (IAGP)
Juvenile onset  (IAGP)
Loss of ambulation  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrocephaly  (IAGP)
Malabsorption  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Migraine  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Parathyroid carcinoma  (IAGP)
Polymicrogyria  (IAGP)
Polyneuropathy  (IAGP)
Posterior embryotoxon  (IAGP)
Premature birth  (IAGP)
Primary adrenal insufficiency  (IAGP)
Profound global developmental delay  (IAGP)
Progressive hearing impairment  (IAGP)
Progressive muscle weakness  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Respiratory insufficiency  (IAGP)
Rod-cone dystrophy  (IAGP)
Rotary nystagmus  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary incontinence  (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:9792670   PMID:9826565   PMID:9922452   PMID:10704444   PMID:11390669   PMID:12096124   PMID:12477932   PMID:12618434   PMID:14702039   PMID:14709540   PMID:15489334   PMID:16344560  
PMID:16712791   PMID:17408615   PMID:18782765   PMID:19229552   PMID:19946888   PMID:20301621   PMID:20531392   PMID:20826455   PMID:20877624   PMID:21873635   PMID:22119785   PMID:22581968  
PMID:22581969   PMID:23275563   PMID:23308220   PMID:23376485   PMID:24163370   PMID:25416956   PMID:26264872   PMID:27499296   PMID:27684187   PMID:28129423   PMID:28514442   PMID:29180619  
PMID:29997244   PMID:30194290   PMID:30804502   PMID:31073040   PMID:31091453   PMID:31129117   PMID:31467278   PMID:32344865   PMID:32687490   PMID:32814053   PMID:32877691   PMID:33961781  
PMID:34079125   PMID:34186245   PMID:35678336   PMID:35944360   PMID:36215168   PMID:36522796   PMID:36590901   PMID:37774976   PMID:37827155   PMID:38423277  


Genomics

Comparative Map Data
PEX11B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,911,348 - 145,918,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,911,350 - 145,918,717 (-)EnsemblGRCh38hg38GRCh38
GRCh371145,516,372 - 145,523,732 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,227,740 - 144,235,088 (+)NCBINCBI36Build 36hg18NCBI36
Build 341143,005,426 - 143,012,775NCBI
Celera1119,719,522 - 119,727,100 (+)NCBICelera
Cytogenetic Map1q21.1NCBI
HuRef1119,479,859 - 119,487,437 (+)NCBIHuRef
CHM1_11147,279,474 - 147,287,050 (-)NCBICHM1_1
T2T-CHM13v2.01145,028,165 - 145,035,536 (-)NCBIT2T-CHM13v2.0
Pex11b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39396,542,673 - 96,552,697 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl396,542,692 - 96,552,682 (+)EnsemblGRCm39 Ensembl
GRCm38396,635,357 - 96,645,381 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl396,635,376 - 96,645,366 (+)EnsemblGRCm38mm10GRCm38
MGSCv37396,439,280 - 96,449,304 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36396,721,037 - 96,730,129 (+)NCBIMGSCv36mm8
Celera398,042,365 - 98,052,388 (+)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map341.93NCBI
Pex11b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82186,858,222 - 186,869,814 (+)NCBIGRCr8
mRatBN7.22184,172,041 - 184,180,972 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2184,172,004 - 184,181,495 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2191,843,708 - 191,862,776 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02189,636,518 - 189,655,585 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02184,476,265 - 184,495,332 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02198,762,138 - 198,771,040 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2198,762,138 - 198,771,026 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02218,249,072 - 218,257,974 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42191,437,355 - 191,446,258 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12191,400,108 - 191,408,820 (+)NCBI
Celera2176,697,147 - 176,716,156 (+)NCBICelera
Cytogenetic Map2q34NCBI
Pex11b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955568174,770 - 183,624 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955568174,770 - 183,078 (+)NCBIChiLan1.0ChiLan1.0
PEX11B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21103,305,591 - 103,313,028 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11102,893,953 - 102,901,393 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01121,839,167 - 121,846,617 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11113,823,170 - 113,830,830 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1113,821,787 - 113,830,830 (-)Ensemblpanpan1.1panPan2
PEX11B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11758,713,304 - 58,718,795 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1758,712,902 - 58,718,647 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1758,181,351 - 58,186,939 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01759,710,171 - 59,715,761 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1759,710,171 - 59,715,538 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11758,582,905 - 58,588,495 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01758,644,042 - 58,649,632 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01759,370,463 - 59,376,053 (-)NCBIUU_Cfam_GSD_1.0
Pex11b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505820,777,010 - 20,784,165 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936867652,511 - 660,721 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936867653,127 - 660,265 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGA10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1499,415,403 - 99,422,324 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24109,057,908 - 109,064,835 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pex11b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477217,270,519 - 17,281,159 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477217,270,633 - 17,281,170 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PEX11B
216 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) single nucleotide variant Peroxisome biogenesis disorder 14B [RCV000525555]|not provided [RCV000729272] Chr1:145916914 [GRCh38]
Chr1:145518175 [GRCh37]
Chr1:1q21.1		 pathogenic|likely pathogenic
NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter) single nucleotide variant Peroxisome biogenesis disorder 14B [RCV000032935] Chr1:145917809 [GRCh38]
Chr1:145517280 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.652C>T (p.Leu218Phe) single nucleotide variant not provided [RCV000729484] Chr1:145912289 [GRCh38]
Chr1:145522791 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.128_133del (p.Lys43_Gln44del) deletion not provided [RCV000729183] Chr1:145917740..145917745 [GRCh38]
Chr1:145517339..145517344 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln) single nucleotide variant Inborn genetic diseases [RCV003344026]|Peroxisome biogenesis disorder 14B [RCV002499348]|not provided [RCV000729413] Chr1:145912369 [GRCh38]
Chr1:145522711 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3 copy number gain See cases [RCV000050972] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1 copy number loss See cases [RCV000050973] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 copy number loss See cases [RCV000050516] Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 copy number gain See cases [RCV000051109] Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22		 pathogenic
GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1 copy number loss See cases [RCV000052241] Chr1:145705541..146009831 [GRCh38]
Chr1:145425195..145729525 [GRCh37]
Chr1:144136552..144440882 [NCBI36]
Chr1:1q21.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052242]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052242]|See cases [RCV000052242] Chr1:145439580..147036021 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 copy number loss See cases [RCV000052244] Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|See cases [RCV000053171]|See cases [RCV000509068] Chr1:145215697..149076087 [GRCh38]
Chr1:145425395..148545520 [GRCh37]
Chr1:144136752..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|See cases [RCV000053172] Chr1:145425395..148867610 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|See cases [RCV000053173] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148936712 [GRCh37]
Chr1:144136752..147203336 [NCBI36]
Chr1:1q21.1-21.2		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 copy number gain See cases [RCV000053170] Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1 copy number loss See cases [RCV000053728] Chr1:145335791..146944906 [GRCh38]
Chr1:145271814..147848311 [GRCh37]
Chr1:143983171..146314935 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1 copy number loss See cases [RCV000053732] Chr1:145335791..146133507 [GRCh38]
Chr1:145304668..145738275 [GRCh37]
Chr1:144016025..144449632 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1 copy number loss See cases [RCV000053735] Chr1:145688094..146046645 [GRCh38]
Chr1:145388355..145746971 [GRCh37]
Chr1:144099712..144458328 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146046645)x1 copy number loss See cases [RCV000053738] Chr1:145601946..146046645 [GRCh38]
Chr1:145388355..145917640 [GRCh37]
Chr1:144099712..144628997 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145609216-146046645)x1 copy number loss See cases [RCV000053739] Chr1:145609216..146046645 [GRCh38]
Chr1:145388355..145825847 [GRCh37]
Chr1:144099712..144537204 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145635445-146046645)x1 copy number loss See cases [RCV000053740] Chr1:145635445..146046645 [GRCh38]
Chr1:145388355..145799602 [GRCh37]
Chr1:144099712..144510959 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145625047-146021303)x1 copy number loss See cases [RCV000053742] Chr1:145625047..146021303 [GRCh38]
Chr1:145413710..145810009 [GRCh37]
Chr1:144125067..144521366 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 copy number loss See cases [RCV000053699] Chr1:143646745..148752268 [GRCh37]
Chr1:142438268..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 copy number loss See cases [RCV000053700] Chr1:143721526..149232481 [GRCh37]
Chr1:142513049..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145833599-146009630)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053545]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053545]|See cases [RCV000053545] Chr1:145833599..146009630 [GRCh38]
Chr1:145425395..145601513 [GRCh37]
Chr1:144136752..144312870 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145635445-145968427)x3 copy number gain See cases [RCV000053546] Chr1:145635445..145968427 [GRCh38]
Chr1:145466663..145799602 [GRCh37]
Chr1:144178020..144510959 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3 copy number gain See cases [RCV000053578] Chr1:143646638..146126442 [GRCh37]
Chr1:142438161..144837799 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3 copy number gain See cases [RCV000053579] Chr1:145335791..146146477 [GRCh38]
Chr1:145291698..146037042 [GRCh37]
Chr1:144003055..144748399 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3 copy number gain See cases [RCV000053580] Chr1:145335791..146127929 [GRCh38]
Chr1:145310253..145899398 [GRCh37]
Chr1:144021610..144610755 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3 copy number gain See cases [RCV000053581] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]|See cases [RCV000053582] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1 copy number loss See cases [RCV000053882] Chr1:144810725..146858488 [GRCh37]
Chr1:143456705..145325112 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 copy number gain See cases [RCV000051832] Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.10:g.(?_145413072)_(145592772_145596903)del deletion Radial aplasia-thrombocytopenia syndrome [RCV000033867] Chr1:145413072..145592772 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050689] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000133640] Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain See cases [RCV000053172] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1 copy number loss See cases [RCV000053582] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145635432-146019857)x3 copy number gain See cases [RCV000134116] Chr1:145635432..146019857 [GRCh38]
Chr1:145415156..145799615 [GRCh37]
Chr1:144126513..144510972 [NCBI36]
Chr1:1q21.1		 conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000135335] Chr1:145601946..148572213 [GRCh38]
Chr1:145311043..147915048 [GRCh37]
Chr1:144022400..146381672 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 copy number gain See cases [RCV000135353] Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3 copy number gain See cases [RCV000135354] Chr1:145688153..146166380 [GRCh38]
Chr1:145271815..145746912 [GRCh37]
Chr1:143983172..144458269 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 copy number gain See cases [RCV000135740] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 copy number loss See cases [RCV000135741] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3 copy number gain See cases [RCV000135720] Chr1:145439580..147036021 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3 copy number gain See cases [RCV000135485] Chr1:145691625..146082575 [GRCh38]
Chr1:145311043..145743440 [GRCh37]
Chr1:144022400..144454797 [NCBI36]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3 copy number gain See cases [RCV000135936] Chr1:142618650..148535229 [GRCh37]
Chr1:141560173..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely benign
GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1 copy number loss See cases [RCV000135938] Chr1:145646117..146019823 [GRCh38]
Chr1:145415190..145788922 [GRCh37]
Chr1:144126547..144500279 [NCBI36]
Chr1:1q21.1		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 copy number gain See cases [RCV000136866] Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000137559] Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1 copy number loss See cases [RCV000137671] Chr1:145601946..146019823 [GRCh38]
Chr1:145415190..146053471 [GRCh37]
Chr1:144126547..144764828 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 copy number gain See cases [RCV000138438] Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000138437] Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1(chr1:144955198-145831720)x1 copy number loss See cases [RCV000140037] Chr1:144955198..145831720 [GRCh37]
Chr1:143666555..144543077 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 copy number loss See cases [RCV000139762] Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1 copy number loss See cases [RCV000139546] Chr1:145601946..146046631 [GRCh38]
Chr1:145388369..145899418 [GRCh37]
Chr1:144099726..144610775 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000141206] Chr1:145601946..148572213 [GRCh38]
Chr1:145376675..147860552 [GRCh37]
Chr1:144088032..146327176 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 copy number gain See cases [RCV000140695] Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000140697] Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146052881)x1 copy number loss See cases [RCV000141815] Chr1:145601946..146052881 [GRCh38]
Chr1:145382123..145888926 [GRCh37]
Chr1:144093480..144600283 [NCBI36]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:144887739-145829474)x1 copy number loss See cases [RCV000141909] Chr1:144887739..145829474 [GRCh37]
Chr1:143599096..144540831 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142480] Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142511] Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145642988-146047980)x1 copy number loss See cases [RCV000142207] Chr1:145642988..146047980 [GRCh38]
Chr1:145387023..145792052 [GRCh37]
Chr1:144098380..144503409 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142804] Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142666] Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1 copy number loss See cases [RCV000143222] Chr1:145601946..146065803 [GRCh38]
Chr1:145369199..145888926 [GRCh37]
Chr1:144080556..144600283 [NCBI36]
Chr1:1q21.1		 likely pathogenic
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3 copy number gain See cases [RCV000148088] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1 copy number loss See cases [RCV000148089] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000148052] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145605589-146057729)x1 copy number loss See cases [RCV000143601] Chr1:145605589..146057729 [GRCh38]
Chr1:145377276..145829474 [GRCh37]
Chr1:144088633..144540831 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1 copy number loss See cases [RCV000148151] Chr1:145705541..146009831 [GRCh38]
Chr1:145425195..145729525 [GRCh37]
Chr1:144136552..144440882 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000148163] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3 copy number gain See cases [RCV000148171] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000148183] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050868] Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050688] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050278] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1 copy number loss See cases [RCV000052251] Chr1:145601946..146944906 [GRCh38]
Chr1:145787561..147800872 [GRCh37]
Chr1:144498918..146267496 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|See cases [RCV000052297] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545535 [GRCh37]
Chr1:144854546..146812159 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053185] Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053187] Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 copy number gain See cases [RCV000053188] Chr1:145601946..146944906 [GRCh38]
Chr1:145764368..147718449 [GRCh37]
Chr1:144475725..146185073 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 copy number gain See cases [RCV000053189] Chr1:145601946..146944906 [GRCh38]
Chr1:145764368..147800872 [GRCh37]
Chr1:144475725..146267496 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053191] Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053203] Chr1:145215697..149076087 [GRCh38]
Chr1:146142989..148545676 [GRCh37]
Chr1:144854346..146812300 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000052248] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1 copy number loss See cases [RCV000134757] Chr1:145138148..146401981 [GRCh38]
Chr1:149155041..149699396 [GRCh37]
Chr1:147421665..147966020 [NCBI36]
Chr1:1q21.1		 benign
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000136047] Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000137435] Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000137646] Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000141560] Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000141565] Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145438928-145527669)x3 copy number gain Breast ductal adenocarcinoma [RCV000207280] Chr1:145438928..145527669 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1 copy number loss not provided [RCV001005134] Chr1:144884331..148665189 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1q21.1(chr1:145020771-145640129)x3 copy number gain Premature ovarian failure [RCV000225333] Chr1:145020771..145640129 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145368848-145735385)x3 copy number gain See cases [RCV000239850] Chr1:145368848..145735385 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3 copy number gain See cases [RCV000239925] Chr1:145291030..145735385 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145387945-145735385)x3 copy number gain See cases [RCV000239876] Chr1:145387945..145735385 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:144674799-145735385)x3 copy number gain See cases [RCV000240057] Chr1:144674799..145735385 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145387945-145735385)x1 copy number loss See cases [RCV000240079] Chr1:145387945..145735385 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 copy number gain See cases [RCV000240518] Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145416056-146089268)x3 copy number gain See cases [RCV000515605] Chr1:145416056..146089268 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:144709677-145735385)x3 copy number gain See cases [RCV000240371] Chr1:144709677..145735385 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.483A>G (p.Gly161=) single nucleotide variant not provided [RCV000398482] Chr1:145912458 [GRCh38]
Chr1:145522622 [GRCh37]
Chr1:1q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_003846.3(PEX11B):c.375-7G>A single nucleotide variant not provided [RCV000594285] Chr1:145912573 [GRCh38]
Chr1:145522507 [GRCh37]
Chr1:1q21.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q21.1(chr1:145387023-145764679)x3 copy number gain See cases [RCV002292701] Chr1:145387023..145764679 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.674T>G (p.Leu225Arg) single nucleotide variant not provided [RCV000596552] Chr1:145912267 [GRCh38]
Chr1:145522813 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.596G>A (p.Arg199Gln) single nucleotide variant not provided [RCV000730067] Chr1:145912345 [GRCh38]
Chr1:145522735 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.387T>G (p.Phe129Leu) single nucleotide variant not provided [RCV000591826] Chr1:145912554 [GRCh38]
Chr1:145522526 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.510T>G (p.Thr170=) single nucleotide variant not provided [RCV000592354] Chr1:145912431 [GRCh38]
Chr1:145522649 [GRCh37]
Chr1:1q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_003846.3(PEX11B):c.238G>A (p.Val80Ile) single nucleotide variant not provided [RCV000592463] Chr1:145916953 [GRCh38]
Chr1:145518136 [GRCh37]
Chr1:1q21.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767545] Chr1:145103956..147220326 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_003846.3(PEX11B):c.685C>T (p.Arg229Cys) single nucleotide variant not provided [RCV000598342] Chr1:145912256 [GRCh38]
Chr1:145522824 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.299A>G (p.Asp100Gly) single nucleotide variant not provided [RCV000731201] Chr1:145916892 [GRCh38]
Chr1:145518197 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.484G>A (p.Gly162Arg) single nucleotide variant not provided [RCV000731296] Chr1:145912457 [GRCh38]
Chr1:145522623 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter) single nucleotide variant Peroxisome biogenesis disorder 14B [RCV003225954]|not provided [RCV000732142] Chr1:145912175 [GRCh38]
Chr1:145522905 [GRCh37]
Chr1:1q21.1		 pathogenic|uncertain significance
NM_003846.3(PEX11B):c.275A>T (p.Asn92Ile) single nucleotide variant not provided [RCV000733174] Chr1:145916916 [GRCh38]
Chr1:145518173 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.445G>A (p.Glu149Lys) single nucleotide variant not provided [RCV000734416] Chr1:145912496 [GRCh38]
Chr1:145522584 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.192A>G (p.Ser64=) single nucleotide variant PEX11B-related condition [RCV003892626]|not provided [RCV000730426] Chr1:145916999 [GRCh38]
Chr1:145518090 [GRCh37]
Chr1:1q21.1		 likely benign|uncertain significance
NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln) single nucleotide variant Peroxisome biogenesis disorder 14B [RCV002477714]|not provided [RCV000732395] Chr1:145912174 [GRCh38]
Chr1:145522906 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.281C>T (p.Ala94Val) single nucleotide variant not provided [RCV000734577] Chr1:145916910 [GRCh38]
Chr1:145518179 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.2(PEX11B):c.(?_-1)_(374+1_375-1)del deletion Developmental cataract [RCV000416285] Chr1:1q21.1 likely pathogenic
NM_003846.3(PEX11B):c.372C>T (p.Phe124=) single nucleotide variant not provided [RCV000732509] Chr1:145916819 [GRCh38]
Chr1:145518270 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV000733567] Chr1:145918681 [GRCh38]
Chr1:145516408 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) single nucleotide variant Peroxisome biogenesis disorder 14B [RCV000537988] Chr1:145912346 [GRCh38]
Chr1:145522734 [GRCh37]
Chr1:1q21.1		 pathogenic|likely pathogenic
NM_003846.3(PEX11B):c.613C>T (p.Pro205Ser) single nucleotide variant not provided [RCV000731575] Chr1:145912328 [GRCh38]
Chr1:145522752 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.349_351del (p.Glu117del) deletion not provided [RCV000732630] Chr1:145916840..145916842 [GRCh38]
Chr1:145518245..145518247 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.703G>A (p.Val235Met) single nucleotide variant not provided [RCV000732742] Chr1:145912238 [GRCh38]
Chr1:145522842 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.41G>A (p.Arg14Gln) single nucleotide variant not provided [RCV000734206] Chr1:145918648 [GRCh38]
Chr1:145516441 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.105T>C (p.His35=) single nucleotide variant not provided [RCV000732866] Chr1:145917768 [GRCh38]
Chr1:145517321 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.61G>T (p.Ala21Ser) single nucleotide variant Inborn genetic diseases [RCV003303215]|not provided [RCV000731733] Chr1:145917812 [GRCh38]
Chr1:145517277 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.275A>G (p.Asn92Ser) single nucleotide variant not provided [RCV000729109] Chr1:145916916 [GRCh38]
Chr1:145518173 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.374+9T>C single nucleotide variant not provided [RCV000729167] Chr1:145916808 [GRCh38]
Chr1:145518281 [GRCh37]
Chr1:1q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_003846.3(PEX11B):c.726C>A (p.Ser242=) single nucleotide variant not provided [RCV000729350] Chr1:145912215 [GRCh38]
Chr1:145522865 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.79CTT[1] (p.Leu28del) microsatellite not provided [RCV000730985] Chr1:145917789..145917791 [GRCh38]
Chr1:145517294..145517296 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145387023-145803834)x1 copy number loss See cases [RCV000449470] Chr1:145387023..145803834 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145224606-145735326)x3 copy number gain See cases [RCV000446960] Chr1:145224606..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144833672-148870387)x3 copy number gain See cases [RCV000447303] Chr1:144833672..148870387 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145895747)x3 copy number gain See cases [RCV000446996] Chr1:145382123..145895747 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145288338-145809279)x3 copy number gain See cases [RCV000446123] Chr1:145288338..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145112506-145735326)x3 copy number gain See cases [RCV000446649] Chr1:145112506..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145283118-145735326)x3 copy number gain See cases [RCV000446572] Chr1:145283118..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145372549-145809279)x3 copy number gain See cases [RCV000445760] Chr1:145372549..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145387945-145735326)x1 copy number loss See cases [RCV000445806] Chr1:145387945..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145770627)x3 copy number gain See cases [RCV000445719] Chr1:145382123..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145387023-145792051)x1 copy number loss See cases [RCV000447711] Chr1:145387023..145792051 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145388004-146535353)x1 copy number loss See cases [RCV000448068] Chr1:145388004..146535353 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145387945-145735326)x3 copy number gain See cases [RCV000448218] Chr1:145387945..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.466C>T (p.Arg156Ter) single nucleotide variant not provided [RCV000478899] Chr1:145912475 [GRCh38]
Chr1:145522605 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:144959474-146030329)x3 copy number gain See cases [RCV000510647] Chr1:144959474..146030329 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145398177-145764679)x1 copy number loss See cases [RCV000510557] Chr1:145398177..145764679 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.1(chr1:145369199-145803834)x1 copy number loss See cases [RCV000510176] Chr1:145369199..145803834 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1 copy number loss See cases [RCV000511406] Chr1:144368497..148636756 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144823069-145809279)x3 copy number gain See cases [RCV000511462] Chr1:144823069..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1 copy number loss See cases [RCV000511474] Chr1:144371838..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic|uncertain significance
GRCh37/hg19 1q21.1(chr1:144823069-145770627)x3 copy number gain See cases [RCV000511766] Chr1:144823069..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1 copy number loss See cases [RCV000511224] Chr1:144880315..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145368365-145932455)x3 copy number gain See cases [RCV000511073] Chr1:145368365..145932455 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 copy number gain See cases [RCV000511264] Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_003846.3(PEX11B):c.458G>A (p.Cys153Tyr) single nucleotide variant PEX11B-related condition [RCV003980095]|not provided [RCV000952299]|not specified [RCV000594227] Chr1:145912483 [GRCh38]
Chr1:145522597 [GRCh37]
Chr1:1q21.1		 benign|likely benign
GRCh37/hg19 1q21.1(chr1:145156448-145829474)x3 copy number gain See cases [RCV000512285] Chr1:145156448..145829474 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.56+25T>G single nucleotide variant not provided [RCV000676159] Chr1:145918608 [GRCh38]
Chr1:145516481 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3 copy number gain not provided [RCV000684622] Chr1:144549794..147978640 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144823069-145888926)x1 copy number loss not provided [RCV000684623] Chr1:144823069..145888926 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1 copy number loss not provided [RCV000684624] Chr1:144842544..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1 copy number loss not provided [RCV000684625] Chr1:144884331..148514236 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1 copy number loss not provided [RCV000684626] Chr1:145068491..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3 copy number gain not provided [RCV000684628] Chr1:145376052..147819815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145376224-145770626)x3 copy number gain not provided [RCV000684629] Chr1:145376224..145770626 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145387023-145928000)x1 copy number loss not provided [RCV000684630] Chr1:145387023..145928000 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145398177-145809279)x1 copy number loss not provided [RCV000684631] Chr1:145398177..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145368364-145803834)x1 copy number loss not provided [RCV000684627] Chr1:145368364..145803834 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1 copy number loss Radial aplasia-thrombocytopenia syndrome [RCV000709929] Chr1:145415156..145799615 [GRCh37]
Chr1:1q21.1		 not provided
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_145430995)_(148257619_?)del deletion Schizophrenia [RCV000754126] Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.(?_145430995)_(148427734_?)del deletion Schizophrenia [RCV000754127] Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.(?_145580669)_(149095000_?)del deletion Schizophrenia [RCV000754128] Chr1:145580669..149095000 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754132] Chr1:145601945..148889374 [GRCh38]
Chr1:1q21.1-21.2		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754129] Chr1:145601945..146041785 [GRCh38]
Chr1:1q21.1		 likely pathogenic
NC_000001.11:g.(?_145601945)_(146048346_?)del deletion Schizophrenia [RCV000754130] Chr1:145601945..146048346 [GRCh38]
Chr1:1q21.1		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754131] Chr1:145601945..146049618 [GRCh38]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:144938320-145747925)x3 copy number gain not provided [RCV000749158] Chr1:144938320..145747925 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145101177-146508774)x3 copy number gain not provided [RCV000749159] Chr1:145101177..146508774 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145319773-145762959)x1 copy number loss not provided [RCV000749160] Chr1:145319773..145762959 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145394955-145762959)x3 copy number gain not provided [RCV000749161] Chr1:145394955..145762959 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145394955-145895948)x3 copy number gain not provided [RCV000749162] Chr1:145394955..145895948 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145394955-145940594)x3 copy number gain not provided [RCV000749163] Chr1:145394955..145940594 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1-21.2(chr1:145395440-148242053)x3 copy number gain not provided [RCV000749164] Chr1:145395440..148242053 [GRCh37]
Chr1:1q21.1-21.2		 uncertain significance
NM_003846.3(PEX11B):c.172+173C>T single nucleotide variant not provided [RCV001609731] Chr1:145917528 [GRCh38]
Chr1:145517561 [GRCh37]
Chr1:1q21.1		 benign
NM_003846.3(PEX11B):c.57-82G>A single nucleotide variant not provided [RCV001709831] Chr1:145917898 [GRCh38]
Chr1:145517191 [GRCh37]
Chr1:1q21.1		 benign
NM_003846.3(PEX11B):c.441G>A (p.Glu147=) single nucleotide variant not provided [RCV000943058] Chr1:145912500 [GRCh38]
Chr1:145522580 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.77C>G (p.Ser26Cys) single nucleotide variant Inborn genetic diseases [RCV002552613]|not provided [RCV001046926] Chr1:145917796 [GRCh38]
Chr1:145517293 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145395604-145704146) copy number loss Radial aplasia-thrombocytopenia syndrome [RCV000767549] Chr1:145395604..145704146 [GRCh37]
Chr1:1q21.1		 likely pathogenic
NC_000001.10:g.(?_145498103)_(145567095_?)dup duplication not provided [RCV001032118] Chr1:145498103..145567095 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767544] Chr1:145015937..147416122 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145764679)x3 copy number gain not provided [RCV000848643] Chr1:145382123..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3 copy number gain not provided [RCV000848311] Chr1:144823069..148839976 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145372549-145770627)x3 copy number gain not provided [RCV000849868] Chr1:145372549..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145368364-145809279)x3 copy number gain not provided [RCV000849487] Chr1:145368364..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145369199-145770627)x3 copy number gain not provided [RCV000849905] Chr1:145369199..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145600717)x3 copy number gain not provided [RCV000846856] Chr1:145375589..145600717 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144884265-145764679)x1 copy number loss not provided [RCV000848594] Chr1:144884265..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145398236-145792148)x3 copy number gain not provided [RCV000848278] Chr1:145398236..145792148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145899214)x3 copy number gain not provided [RCV000846811] Chr1:145382123..145899214 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145769109)x3 copy number gain not provided [RCV000847355] Chr1:145311524..145769109 [GRCh37]
Chr1:1q21.1		 uncertain significance
Single allele duplication Growth abnormality [RCV000787430] Chr1:145461209..146467333 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1 copy number loss not provided [RCV001005133] Chr1:144842544..147832190 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145747910)x3 copy number gain not provided [RCV000847131] Chr1:145382123..145747910 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1 copy number loss not provided [RCV000846049] Chr1:145311524..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145225122-145770627)x3 copy number gain not provided [RCV000847763] Chr1:145225122..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1 copy number loss not provided [RCV000849695] Chr1:145311524..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4 copy number gain not provided [RCV000849214] Chr1:143940435..147845170 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144950620-145764679)x3 copy number gain not provided [RCV000848873] Chr1:144950620..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145480145-145810881)x3 copy number gain not provided [RCV000849856] Chr1:145480145..145810881 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145792148)x3 copy number gain not provided [RCV000848481] Chr1:145382123..145792148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145376197-145792148)x3 copy number gain not provided [RCV000850022] Chr1:145376197..145792148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145768023)x3 copy number gain not provided [RCV000846834] Chr1:145375589..145768023 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145376197-145764679)x1 copy number loss not provided [RCV000848579] Chr1:145376197..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144861071-145792148)x3 copy number gain not provided [RCV000846345] Chr1:144861071..145792148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145600717)x3 copy number gain not provided [RCV000847551] Chr1:145375589..145600717 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln) single nucleotide variant Inborn genetic diseases [RCV003284061]|Peroxisome biogenesis disorder 14B [RCV002491659]|not provided [RCV001213989] Chr1:145912477 [GRCh38]
Chr1:145522603 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.172+5G>A single nucleotide variant not provided [RCV001203065] Chr1:145917696 [GRCh38]
Chr1:145517393 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.92C>G (p.Ala31Gly) single nucleotide variant not provided [RCV001239560] Chr1:145917781 [GRCh38]
Chr1:145517308 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.190T>C (p.Ser64Pro) single nucleotide variant not provided [RCV001242793] Chr1:145917001 [GRCh38]
Chr1:145518088 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3 copy number gain not provided [RCV001249453] Chr1:145291030..145735385 [GRCh37]
Chr1:1q21.1		 not provided
NM_003846.3(PEX11B):c.448T>C (p.Ser150Pro) single nucleotide variant not provided [RCV001241766] Chr1:145912493 [GRCh38]
Chr1:145522587 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.337C>T (p.Arg113Cys) single nucleotide variant not provided [RCV001221807] Chr1:145916854 [GRCh38]
Chr1:145518235 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.223G>A (p.Val75Ile) single nucleotide variant not provided [RCV001242424] Chr1:145916968 [GRCh38]
Chr1:145518121 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.8C>G (p.Ala3Gly) single nucleotide variant not provided [RCV000994091] Chr1:145918681 [GRCh38]
Chr1:145516408 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.46C>T (p.Arg16Trp) single nucleotide variant not provided [RCV001247999] Chr1:145918643 [GRCh38]
Chr1:145516446 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145522494)_(145522919_?)dup duplication not provided [RCV003107760] Chr1:145522494..145522919 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.9C>T (p.Ala3=) single nucleotide variant not provided [RCV000980301] Chr1:145918680 [GRCh38]
Chr1:145516409 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.696T>G (p.Pro232=) single nucleotide variant not provided [RCV000942969] Chr1:145912245 [GRCh38]
Chr1:145522835 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.304G>A (p.Val102Ile) single nucleotide variant not provided [RCV001230279] Chr1:145916887 [GRCh38]
Chr1:145518202 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.427C>T (p.Arg143Cys) single nucleotide variant not provided [RCV001241352] Chr1:145912514 [GRCh38]
Chr1:145522566 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.369A>T (p.Ser123=) single nucleotide variant not provided [RCV000935843] Chr1:145916822 [GRCh38]
Chr1:145518267 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.6C>T (p.Asp2=) single nucleotide variant not provided [RCV000934790] Chr1:145918683 [GRCh38]
Chr1:145516406 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.489A>C (p.Gly163=) single nucleotide variant not provided [RCV000935327] Chr1:145912452 [GRCh38]
Chr1:145522628 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145083851-145986573)x1 copy number loss not provided [RCV002472564] Chr1:145083851..145986573 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.104A>G (p.His35Arg) single nucleotide variant not provided [RCV001531636] Chr1:145917769 [GRCh38]
Chr1:145517320 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.172+57C>T single nucleotide variant not provided [RCV001658923] Chr1:145917644 [GRCh38]
Chr1:145517445 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.461G>T (p.Ser154Ile) single nucleotide variant not provided [RCV001066323] Chr1:145912480 [GRCh38]
Chr1:145522600 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.617C>T (p.Pro206Leu) single nucleotide variant PEX11B-related condition [RCV003393838]|not provided [RCV001092896] Chr1:145912324 [GRCh38]
Chr1:145522756 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.375-247G>A single nucleotide variant not provided [RCV001667413] Chr1:145912813 [GRCh38]
Chr1:145522267 [GRCh37]
Chr1:1q21.1		 benign
NC_000001.10:g.(?_145487304)_(145528345_?)dup duplication not provided [RCV001033610] Chr1:145487304..145528345 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.13G>A (p.Val5Ile) single nucleotide variant not provided [RCV001233128] Chr1:145918676 [GRCh38]
Chr1:145516413 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.163G>A (p.Gly55Arg) single nucleotide variant not provided [RCV001234515] Chr1:145917710 [GRCh38]
Chr1:145517379 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145487304)_(145567095_?)dup duplication not provided [RCV001032330] Chr1:145487304..145567095 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3 copy number gain not provided [RCV001005132] Chr1:143940435..147823872 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3 copy number gain not provided [RCV001005135] Chr1:145053968..148823133 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.10:g.(?_145498103)_(145538307_?)dup duplication not provided [RCV001031411] Chr1:145498103..145538307 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145487304)_(145557112_?)dup duplication not provided [RCV001031413] Chr1:145487304..145557112 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.470T>C (p.Leu157Pro) single nucleotide variant not provided [RCV001245823] Chr1:145912471 [GRCh38]
Chr1:145522609 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145498103)_(145567756_?)dup duplication not provided [RCV001031867] Chr1:145498103..145567756 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.326G>A (p.Gly109Glu) single nucleotide variant Inborn genetic diseases [RCV003380834]|not provided [RCV001063928] Chr1:145916865 [GRCh38]
Chr1:145518224 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145288338-146011861)x1 copy number loss not provided [RCV001260117] Chr1:145288338..146011861 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145347631-145833118)x1 copy number loss See cases [RCV001263044] Chr1:145347631..145833118 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1 copy number loss not provided [RCV001260118] Chr1:144887445..148801960 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3 copy number gain not provided [RCV001260124] Chr1:144849457..147819815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_003846.3(PEX11B):c.310T>G (p.Trp104Gly) single nucleotide variant not provided [RCV001319898] Chr1:145916881 [GRCh38]
Chr1:145518208 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.153C>G (p.His51Gln) single nucleotide variant not provided [RCV001298226] Chr1:145917720 [GRCh38]
Chr1:145517369 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.409C>T (p.Arg137Cys) single nucleotide variant not provided [RCV001317638] Chr1:145912532 [GRCh38]
Chr1:145522548 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.663_671del (p.Asp223_Leu225del) deletion not provided [RCV001318189] Chr1:145912270..145912278 [GRCh38]
Chr1:145522802..145522810 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.482G>A (p.Gly161Glu) single nucleotide variant not provided [RCV001318192] Chr1:145912459 [GRCh38]
Chr1:145522621 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_003846.3(PEX11B):c.211G>T (p.Ala71Ser) single nucleotide variant not provided [RCV001326123] Chr1:145916980 [GRCh38]
Chr1:145518109 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145414782)_(145610584_?)dup duplication Radial aplasia-thrombocytopenia syndrome [RCV003120587]|not provided [RCV001374077] Chr1:145414782..145610584 [GRCh37]
Chr1:1q21.1		 uncertain significance|no classifications from unflagged records
NM_003846.3(PEX11B):c.56+4C>T single nucleotide variant not provided [RCV001371266] Chr1:145918629 [GRCh38]
Chr1:145516460 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.686G>A (p.Arg229His) single nucleotide variant not provided [RCV001359557] Chr1:145912255 [GRCh38]
Chr1:145522825 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.410G>A (p.Arg137His) single nucleotide variant Inborn genetic diseases [RCV002545010]|not provided [RCV001307646] Chr1:145912531 [GRCh38]
Chr1:145522549 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.242T>C (p.Val81Ala) single nucleotide variant not provided [RCV001359693] Chr1:145916949 [GRCh38]
Chr1:145518140 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.546T>G (p.Gly182=) single nucleotide variant not provided [RCV001413813] Chr1:145912395 [GRCh38]
Chr1:145522685 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.142C>G (p.Leu48Val) single nucleotide variant not provided [RCV001305252] Chr1:145917731 [GRCh38]
Chr1:145517358 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.720C>G (p.Leu240=) single nucleotide variant not provided [RCV001404743] Chr1:145912221 [GRCh38]
Chr1:145522859 [GRCh37]
Chr1:1q21.1		 likely benign
NC_000001.10:g.(?_145507647)_(145555822_?)del deletion not provided [RCV001383557] Chr1:145507647..145555822 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.374+13G>A single nucleotide variant not provided [RCV001432658] Chr1:145916804 [GRCh38]
Chr1:145518285 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.555A>G (p.Gln185=) single nucleotide variant PEX11B-related condition [RCV003900494]|not provided [RCV001434843] Chr1:145912386 [GRCh38]
Chr1:145522694 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.231A>G (p.Leu77=) single nucleotide variant not provided [RCV001408930] Chr1:145916960 [GRCh38]
Chr1:145518129 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.630C>T (p.Asp210=) single nucleotide variant not provided [RCV001448109] Chr1:145912311 [GRCh38]
Chr1:145522769 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.435G>A (p.Leu145=) single nucleotide variant not provided [RCV001400501] Chr1:145912506 [GRCh38]
Chr1:145522574 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.57-21C>T single nucleotide variant not provided [RCV001645712] Chr1:145917837 [GRCh38]
Chr1:145517252 [GRCh37]
Chr1:1q21.1		 benign
NM_003846.3(PEX11B):c.582C>G (p.Val194=) single nucleotide variant not provided [RCV001503576] Chr1:145912359 [GRCh38]
Chr1:145522721 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.93G>A (p.Ala31=) single nucleotide variant not provided [RCV001417314] Chr1:145917780 [GRCh38]
Chr1:145517309 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.681C>G (p.Leu227=) single nucleotide variant not provided [RCV001485901] Chr1:145912260 [GRCh38]
Chr1:145522820 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.588C>G (p.Leu196=) single nucleotide variant not provided [RCV001480259] Chr1:145912353 [GRCh38]
Chr1:145522727 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.522G>A (p.Gly174=) single nucleotide variant not provided [RCV001466065] Chr1:145912419 [GRCh38]
Chr1:145522661 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.291C>T (p.Phe97=) single nucleotide variant not provided [RCV001518043] Chr1:145916900 [GRCh38]
Chr1:145518189 [GRCh37]
Chr1:1q21.1		 benign
NM_003846.3(PEX11B):c.72T>C (p.Ala24=) single nucleotide variant not provided [RCV001485531] Chr1:145917801 [GRCh38]
Chr1:145517288 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.515G>T (p.Gly172Val) single nucleotide variant not provided [RCV003104582] Chr1:145912426 [GRCh38]
Chr1:145522654 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.428G>A (p.Arg143His) single nucleotide variant not provided [RCV003109188] Chr1:145912513 [GRCh38]
Chr1:145522567 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.24T>A (p.Ser8Arg) single nucleotide variant See cases [RCV002252611]|not provided [RCV003101391] Chr1:145918665 [GRCh38]
Chr1:145516424 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.11:g.145601946_148597425del deletion Radial aplasia-thrombocytopenia syndrome [RCV000853559] Chr1:145601946..148597425 [GRCh38]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145324298-146018577)x3 copy number gain Failure to thrive [RCV001801229] Chr1:145324298..146018577 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.11:g.145918912C>T single nucleotide variant not provided [RCV001786281] Chr1:145918912 [GRCh38]
Chr1:145516177 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145038814-145747463) copy number loss Radial aplasia-thrombocytopenia syndrome [RCV001807692] Chr1:145038814..145747463 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.374+171A>G single nucleotide variant not provided [RCV001799876] Chr1:145916646 [GRCh38]
Chr1:145518443 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145382601-145616000) copy number loss Cerebral palsy [RCV001796582] Chr1:145382601..145616000 [GRCh37]
Chr1:1q21.1		 risk factor
NC_000001.11:g.145918759G>T single nucleotide variant not provided [RCV001800088] Chr1:145918759 [GRCh38]
Chr1:145516330 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.219A>G (p.Arg73=) single nucleotide variant not provided [RCV001816061] Chr1:145916972 [GRCh38]
Chr1:145518117 [GRCh37]
Chr1:1q21.1		 likely benign
NC_000001.10:g.145382933_145831892del deletion not provided [RCV001806693] Chr1:145382933..145831892 [GRCh37]
Chr1:1q21.1		 likely pathogenic
NM_003846.3(PEX11B):c.198T>C (p.Asp66=) single nucleotide variant not provided [RCV001815679] Chr1:145916993 [GRCh38]
Chr1:145518096 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145369199-145886340)x1 copy number loss not provided [RCV001836589] Chr1:145369199..145886340 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145372549-145829474)x1 copy number loss not provided [RCV001836601] Chr1:145372549..145829474 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.86G>A (p.Gly29Asp) single nucleotide variant not provided [RCV001864507] Chr1:145917787 [GRCh38]
Chr1:145517302 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.701T>C (p.Ile234Thr) single nucleotide variant not provided [RCV001968066] Chr1:145912240 [GRCh38]
Chr1:145522840 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.136C>G (p.Arg46Gly) single nucleotide variant not provided [RCV001874028] Chr1:145917737 [GRCh38]
Chr1:145517352 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter) single nucleotide variant PEX11B-related condition [RCV003395298]|not provided [RCV001967592] Chr1:145916830 [GRCh38]
Chr1:145518259 [GRCh37]
Chr1:1q21.1		 likely pathogenic|uncertain significance
NM_003846.3(PEX11B):c.478T>C (p.Ser160Pro) single nucleotide variant not provided [RCV002039302] Chr1:145912463 [GRCh38]
Chr1:145522617 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.187A>T (p.Asn63Tyr) single nucleotide variant not provided [RCV001965550] Chr1:145917004 [GRCh38]
Chr1:145518085 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.568C>T (p.Leu190Phe) single nucleotide variant not provided [RCV002002272] Chr1:145912373 [GRCh38]
Chr1:145522707 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.95T>C (p.Leu32Pro) single nucleotide variant not provided [RCV001889877] Chr1:145917778 [GRCh38]
Chr1:145517311 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.643G>A (p.Ala215Thr) single nucleotide variant not provided [RCV002023888] Chr1:145912298 [GRCh38]
Chr1:145522782 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.484G>C (p.Gly162Arg) single nucleotide variant not provided [RCV001910775] Chr1:145912457 [GRCh38]
Chr1:145522623 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.689G>T (p.Cys230Phe) single nucleotide variant not provided [RCV001872090] Chr1:145912252 [GRCh38]
Chr1:145522828 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.206A>C (p.Glu69Ala) single nucleotide variant not provided [RCV001966066] Chr1:145916985 [GRCh38]
Chr1:145518104 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.292G>A (p.Ala98Thr) single nucleotide variant not provided [RCV002021565] Chr1:145916899 [GRCh38]
Chr1:145518190 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.555A>T (p.Gln185His) single nucleotide variant not provided [RCV002046920] Chr1:145912386 [GRCh38]
Chr1:145522694 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.502A>C (p.Ser168Arg) single nucleotide variant not provided [RCV001877767] Chr1:145912439 [GRCh38]
Chr1:145522641 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.185G>T (p.Gly62Val) single nucleotide variant not provided [RCV001975674] Chr1:145917006 [GRCh38]
Chr1:145518083 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.278G>A (p.Arg93Gln) single nucleotide variant not provided [RCV002037277] Chr1:145916913 [GRCh38]
Chr1:145518176 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.571C>T (p.Arg191Trp) single nucleotide variant not provided [RCV002018499] Chr1:145912370 [GRCh38]
Chr1:145522710 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.61G>A (p.Ala21Thr) single nucleotide variant not provided [RCV002039146] Chr1:145917812 [GRCh38]
Chr1:145517277 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.92C>T (p.Ala31Val) single nucleotide variant not provided [RCV001920014] Chr1:145917781 [GRCh38]
Chr1:145517308 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.365G>A (p.Arg122His) single nucleotide variant Inborn genetic diseases [RCV002675473]|not provided [RCV002047959] Chr1:145916826 [GRCh38]
Chr1:145518263 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145414782)_(145610584_?)del deletion Radial aplasia-thrombocytopenia syndrome [RCV001975148]|not provided [RCV003107930] Chr1:145414782..145610584 [GRCh37]
Chr1:1q21.1		 pathogenic|no classifications from unflagged records
NM_003846.3(PEX11B):c.721G>A (p.Val241Met) single nucleotide variant Inborn genetic diseases [RCV003264234]|not provided [RCV001899135] Chr1:145912220 [GRCh38]
Chr1:145522860 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.631G>A (p.Val211Met) single nucleotide variant not provided [RCV002047414] Chr1:145912310 [GRCh38]
Chr1:145522770 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.260C>T (p.Thr87Ile) single nucleotide variant not provided [RCV001877034] Chr1:145916931 [GRCh38]
Chr1:145518158 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.7G>A (p.Ala3Thr) single nucleotide variant not provided [RCV002046453] Chr1:145918682 [GRCh38]
Chr1:145516407 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.146A>G (p.Glu49Gly) single nucleotide variant not provided [RCV001922488] Chr1:145917727 [GRCh38]
Chr1:145517362 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145516401)_(145518292_?)del deletion not provided [RCV001992463] Chr1:145516401..145518292 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.179G>A (p.Arg60His) single nucleotide variant not provided [RCV001990121] Chr1:145917012 [GRCh38]
Chr1:145518077 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.196G>A (p.Asp66Asn) single nucleotide variant not provided [RCV001936573] Chr1:145916995 [GRCh38]
Chr1:145518094 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.739A>G (p.Ile247Val) single nucleotide variant not provided [RCV001998987] Chr1:145912202 [GRCh38]
Chr1:145522878 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.746C>A (p.Thr249Asn) single nucleotide variant not provided [RCV001905982] Chr1:145912195 [GRCh38]
Chr1:145522885 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.551C>T (p.Pro184Leu) single nucleotide variant not provided [RCV001937185] Chr1:145912390 [GRCh38]
Chr1:145522690 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.137G>A (p.Arg46Gln) single nucleotide variant not provided [RCV001901552] Chr1:145917736 [GRCh38]
Chr1:145517353 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV002047186] Chr1:145918687 [GRCh38]
Chr1:145516402 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.626T>C (p.Leu209Pro) single nucleotide variant not provided [RCV001898393] Chr1:145912315 [GRCh38]
Chr1:145522765 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.475G>T (p.Gly159Cys) single nucleotide variant Inborn genetic diseases [RCV002625379]|not provided [RCV002028268] Chr1:145912466 [GRCh38]
Chr1:145522614 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.178C>T (p.Arg60Cys) single nucleotide variant Inborn genetic diseases [RCV002608102]|not provided [RCV002012773] Chr1:145917013 [GRCh38]
Chr1:145518076 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.463C>A (p.Arg155=) single nucleotide variant not provided [RCV001975303] Chr1:145912478 [GRCh38]
Chr1:145522602 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.172+11_172+12del microsatellite not provided [RCV002209482] Chr1:145917689..145917690 [GRCh38]
Chr1:145517397..145517398 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.173-16T>G single nucleotide variant not provided [RCV002090160] Chr1:145917034 [GRCh38]
Chr1:145518055 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.93G>T (p.Ala31=) single nucleotide variant not provided [RCV002092653] Chr1:145917780 [GRCh38]
Chr1:145517309 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.750A>G (p.Leu250=) single nucleotide variant not provided [RCV002149342] Chr1:145912191 [GRCh38]
Chr1:145522889 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.90T>C (p.His30=) single nucleotide variant not provided [RCV002196559] Chr1:145917783 [GRCh38]
Chr1:145517306 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.56+10G>T single nucleotide variant not provided [RCV002196528] Chr1:145918623 [GRCh38]
Chr1:145516466 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.56+20G>A single nucleotide variant not provided [RCV002134392] Chr1:145918613 [GRCh38]
Chr1:145516476 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.618A>G (p.Pro206=) single nucleotide variant not provided [RCV002199005] Chr1:145912323 [GRCh38]
Chr1:145522757 [GRCh37]
Chr1:1q21.1		 likely benign
Single allele single nucleotide variant not provided [RCV002244366] Chr1:145919039 [GRCh38]
Chr1:145516050 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.315T>C (p.Ala105=) single nucleotide variant not provided [RCV002163382] Chr1:145916876 [GRCh38]
Chr1:145518213 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) single nucleotide variant Peroxisome biogenesis disorder 14B [RCV002250187] Chr1:145918688 [GRCh38]
Chr1:145516401 [GRCh37]
Chr1:1q21.1		 pathogenic|likely pathogenic
NM_003846.3(PEX11B):c.57-4C>T single nucleotide variant Inborn genetic diseases [RCV003089054]|not provided [RCV002198649] Chr1:145917820 [GRCh38]
Chr1:145517269 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.393C>T (p.Leu131=) single nucleotide variant not provided [RCV002204578] Chr1:145912548 [GRCh38]
Chr1:145522532 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.173-14C>G single nucleotide variant not provided [RCV002200802] Chr1:145917032 [GRCh38]
Chr1:145518057 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.173-4C>A single nucleotide variant not provided [RCV002158939] Chr1:145917022 [GRCh38]
Chr1:145518067 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.720C>T (p.Leu240=) single nucleotide variant not provided [RCV002179360] Chr1:145912221 [GRCh38]
Chr1:145522859 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.172+12dup duplication not provided [RCV002158445] Chr1:145917688..145917689 [GRCh38]
Chr1:145517399..145517400 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.207G>A (p.Glu69=) single nucleotide variant not provided [RCV002184199] Chr1:145916984 [GRCh38]
Chr1:145518105 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.275del (p.Asn92fs) deletion Peroxisome biogenesis disorder [RCV002281809] Chr1:145916916 [GRCh38]
Chr1:145518172 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1 copy number loss See cases [RCV002287572] Chr1:145157447..148016122 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_003846.3(PEX11B):c.544G>A (p.Gly182Ser) single nucleotide variant not specified [RCV002266381] Chr1:145912397 [GRCh38]
Chr1:145522683 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144893419-145803834)x1 copy number loss Dysmorphic features [RCV002281680] Chr1:144893419..145803834 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1 copy number loss not provided [RCV002474588] Chr1:145074728..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_003846.3(PEX11B):c.662C>G (p.Pro221Arg) single nucleotide variant not provided [RCV002816662] Chr1:145912279 [GRCh38]
Chr1:145522801 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.56+5G>C single nucleotide variant not provided [RCV002903510] Chr1:145918628 [GRCh38]
Chr1:145516461 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.56+20G>T single nucleotide variant not provided [RCV003011619] Chr1:145918613 [GRCh38]
Chr1:145516476 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.108dup (p.Ala37fs) duplication not provided [RCV002903286] Chr1:145917764..145917765 [GRCh38]
Chr1:145517323..145517324 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.57-7C>G single nucleotide variant not provided [RCV002618581] Chr1:145917823 [GRCh38]
Chr1:145517266 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.375-18T>C single nucleotide variant not provided [RCV002730322] Chr1:145912584 [GRCh38]
Chr1:145522496 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:144823070-146011861)x1 copy number loss not provided [RCV002475646] Chr1:144823070..146011861 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1 copy number loss not provided [RCV002511625] Chr1:145365287..147416212 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_003846.3(PEX11B):c.309G>A (p.Leu103=) single nucleotide variant not provided [RCV002681397] Chr1:145916882 [GRCh38]
Chr1:145518207 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.771C>T (p.Leu257=) single nucleotide variant not provided [RCV002816045] Chr1:145912170 [GRCh38]
Chr1:145522910 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.189C>T (p.Asn63=) single nucleotide variant not provided [RCV002880672] Chr1:145917002 [GRCh38]
Chr1:145518087 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.216A>G (p.Lys72=) single nucleotide variant not provided [RCV002953713] Chr1:145916975 [GRCh38]
Chr1:145518114 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.63_64del (p.Gln22fs) deletion not provided [RCV002796250] Chr1:145917809..145917810 [GRCh38]
Chr1:145517278..145517279 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.173-19C>T single nucleotide variant not provided [RCV002927981] Chr1:145917037 [GRCh38]
Chr1:145518052 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.533C>T (p.Thr178Ile) single nucleotide variant not provided [RCV002825382] Chr1:145912408 [GRCh38]
Chr1:145522672 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.375-11C>T single nucleotide variant not provided [RCV002663084] Chr1:145912577 [GRCh38]
Chr1:145522503 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.588C>T (p.Leu196=) single nucleotide variant not provided [RCV002639177] Chr1:145912353 [GRCh38]
Chr1:145522727 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.68A>G (p.Tyr23Cys) single nucleotide variant not provided [RCV002999255] Chr1:145917805 [GRCh38]
Chr1:145517284 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.110C>A (p.Ala37Asp) single nucleotide variant not provided [RCV002705841] Chr1:145917763 [GRCh38]
Chr1:145517326 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.375-19C>T single nucleotide variant not provided [RCV002846293] Chr1:145912585 [GRCh38]
Chr1:145522495 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.503G>A (p.Ser168Asn) single nucleotide variant Inborn genetic diseases [RCV002884671] Chr1:145912438 [GRCh38]
Chr1:145522642 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.172+11C>T single nucleotide variant not provided [RCV002639075] Chr1:145917690 [GRCh38]
Chr1:145517399 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.546T>C (p.Gly182=) single nucleotide variant not provided [RCV002592363] Chr1:145912395 [GRCh38]
Chr1:145522685 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.431T>C (p.Leu144Pro) single nucleotide variant not provided [RCV003037908] Chr1:145912510 [GRCh38]
Chr1:145522570 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.327A>G (p.Gly109=) single nucleotide variant not provided [RCV002912998] Chr1:145916864 [GRCh38]
Chr1:145518225 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.375-5A>G single nucleotide variant Inborn genetic diseases [RCV002667458]|not provided [RCV002667457] Chr1:145912571 [GRCh38]
Chr1:145522509 [GRCh37]
Chr1:1q21.1		 likely benign|uncertain significance
NM_003846.3(PEX11B):c.56+13T>A single nucleotide variant not provided [RCV002876272] Chr1:145918620 [GRCh38]
Chr1:145516469 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.215A>G (p.Lys72Arg) single nucleotide variant not provided [RCV002623320] Chr1:145916976 [GRCh38]
Chr1:145518113 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.711T>C (p.Leu237=) single nucleotide variant not provided [RCV003008126] Chr1:145912230 [GRCh38]
Chr1:145522850 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.141A>T (p.Gln47His) single nucleotide variant not provided [RCV003040793] Chr1:145917732 [GRCh38]
Chr1:145517357 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.432A>G (p.Leu144=) single nucleotide variant not provided [RCV002594594] Chr1:145912509 [GRCh38]
Chr1:145522571 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.499G>A (p.Gly167Arg) single nucleotide variant not provided [RCV002953918] Chr1:145912442 [GRCh38]
Chr1:145522638 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.172+1G>A single nucleotide variant not provided [RCV003024821] Chr1:145917700 [GRCh38]
Chr1:145517389 [GRCh37]
Chr1:1q21.1		 likely pathogenic
NM_003846.3(PEX11B):c.172+14T>A single nucleotide variant not provided [RCV002829840] Chr1:145917687 [GRCh38]
Chr1:145517402 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.467G>A (p.Arg156Gln) single nucleotide variant not provided [RCV002594070] Chr1:145912474 [GRCh38]
Chr1:145522606 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.606A>G (p.Arg202=) single nucleotide variant not provided [RCV003063743] Chr1:145912335 [GRCh38]
Chr1:145522745 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.767G>T (p.Arg256Leu) single nucleotide variant not provided [RCV002602794] Chr1:145912174 [GRCh38]
Chr1:145522906 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.772A>C (p.Lys258Gln) single nucleotide variant not provided [RCV003049415] Chr1:145912169 [GRCh38]
Chr1:145522911 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.411T>C (p.Arg137=) single nucleotide variant not provided [RCV002675639] Chr1:145912530 [GRCh38]
Chr1:145522550 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.66G>A (p.Gln22=) single nucleotide variant not provided [RCV002877348] Chr1:145917807 [GRCh38]
Chr1:145517282 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.210A>G (p.Ser70=) single nucleotide variant not provided [RCV003046159] Chr1:145916981 [GRCh38]
Chr1:145518108 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.497G>A (p.Gly166Glu) single nucleotide variant not provided [RCV002856511] Chr1:145912444 [GRCh38]
Chr1:145522636 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.691G>A (p.Gly231Ser) single nucleotide variant not provided [RCV002922089] Chr1:145912250 [GRCh38]
Chr1:145522830 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.338G>A (p.Arg113His) single nucleotide variant not provided [RCV003030091] Chr1:145916853 [GRCh38]
Chr1:145518236 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.518T>A (p.Leu173His) single nucleotide variant not provided [RCV002792036] Chr1:145912423 [GRCh38]
Chr1:145522657 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.521G>C (p.Gly174Ala) single nucleotide variant not provided [RCV002602039] Chr1:145912420 [GRCh38]
Chr1:145522660 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.57-7C>A single nucleotide variant not provided [RCV002938242] Chr1:145917823 [GRCh38]
Chr1:145517266 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.85G>A (p.Gly29Ser) single nucleotide variant not provided [RCV002722076] Chr1:145917788 [GRCh38]
Chr1:145517301 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.363G>A (p.Gln121=) single nucleotide variant not provided [RCV002635459] Chr1:145916828 [GRCh38]
Chr1:145518261 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.514G>A (p.Gly172Arg) single nucleotide variant not provided [RCV003049519] Chr1:145912427 [GRCh38]
Chr1:145522653 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.649G>T (p.Asp217Tyr) single nucleotide variant not provided [RCV003052436] Chr1:145912292 [GRCh38]
Chr1:145522788 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.172+11C>G single nucleotide variant not provided [RCV002634708] Chr1:145917690 [GRCh38]
Chr1:145517399 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.456T>G (p.Ala152=) single nucleotide variant not provided [RCV002586933] Chr1:145912485 [GRCh38]
Chr1:145522595 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV002725739] Chr1:145918673 [GRCh38]
Chr1:145516416 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.89A>G (p.His30Arg) single nucleotide variant not provided [RCV002609116] Chr1:145917784 [GRCh38]
Chr1:145517305 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.375-18T>G single nucleotide variant not provided [RCV002944247] Chr1:145912584 [GRCh38]
Chr1:145522496 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.539G>A (p.Gly180Glu) single nucleotide variant not provided [RCV002815152] Chr1:145912402 [GRCh38]
Chr1:145522678 [GRCh37]
Chr1:1q21.1		 uncertain significance
Single allele deletion See cases [RCV003154628] Chr1:145414780..145826931 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145635432-146019857) copy number loss See cases [RCV003223552] Chr1:145635432..146019857 [GRCh38]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145792051) copy number loss Chromosome 1q21.1 deletion syndrome [RCV003319572] Chr1:145382123..145792051 [GRCh37]
Chr1:1q21.1		 pathogenic|likely pathogenic
GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1 copy number loss Radial aplasia-thrombocytopenia syndrome [RCV003327647] Chr1:145822587..146064587 [GRCh38]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3 copy number gain Chromosome 1q21.1 deletion syndrome [RCV003329510] Chr1:145365275..145826979 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter) single nucleotide variant Peroxisome biogenesis disorder 14B [RCV003340829] Chr1:145917749 [GRCh38]
Chr1:145517340 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145368365-145829474)x1 copy number loss not provided [RCV003483327] Chr1:145368365..145829474 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382124-145803834)x1 copy number loss not provided [RCV003483338] Chr1:145382124..145803834 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1 copy number loss not provided [RCV003483316] Chr1:145311525..147509544 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145287320-145764679)x3 copy number gain not provided [RCV003484036] Chr1:145287320..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3 copy number gain not provided [RCV003456699] Chr1:144828541..145826929 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.108A>T (p.Gly36=) single nucleotide variant not provided [RCV003831888] Chr1:145917765 [GRCh38]
Chr1:145517324 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.177A>G (p.Leu59=) single nucleotide variant not provided [RCV003827391] Chr1:145917014 [GRCh38]
Chr1:145518075 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.87C>A (p.Gly29=) single nucleotide variant not provided [RCV003572039] Chr1:145917786 [GRCh38]
Chr1:145517303 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.255C>T (p.Cys85=) single nucleotide variant not provided [RCV003673624] Chr1:145916936 [GRCh38]
Chr1:145518153 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.48G>T (p.Arg16=) single nucleotide variant not provided [RCV003667258] Chr1:145918641 [GRCh38]
Chr1:145516448 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.96G>T (p.Leu32=) single nucleotide variant not provided [RCV003699889] Chr1:145917777 [GRCh38]
Chr1:145517312 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.285G>A (p.Leu95=) single nucleotide variant not provided [RCV003549302] Chr1:145916906 [GRCh38]
Chr1:145518183 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.374+7T>G single nucleotide variant not provided [RCV003866001] Chr1:145916810 [GRCh38]
Chr1:145518279 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_003846.3(PEX11B):c.45G>A (p.Glu15=) single nucleotide variant not provided [RCV003706342] Chr1:145918644 [GRCh38]
Chr1:145516445 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.717C>T (p.Gly239=) single nucleotide variant not provided [RCV003722528] Chr1:145912224 [GRCh38]
Chr1:145522856 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145452902-145557355)x3 copy number gain not specified [RCV003987117] Chr1:145452902..145557355 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_003846.3(PEX11B):c.9C>G (p.Ala3=) single nucleotide variant not provided [RCV003684472] Chr1:145918680 [GRCh38]
Chr1:145516409 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.173-20C>G single nucleotide variant not provided [RCV003847904] Chr1:145917038 [GRCh38]
Chr1:145518051 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.56+8C>G single nucleotide variant not provided [RCV003564214] Chr1:145918625 [GRCh38]
Chr1:145516464 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211) copy number loss Autism spectrum disorder [RCV003885439] Chr1:145421717..148193211 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
Single allele deletion not provided [RCV003985128] Chr1:145382448..145831727 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_003846.3(PEX11B):c.173-9C>T single nucleotide variant PEX11B-related condition [RCV003973877] Chr1:145917027 [GRCh38]
Chr1:145518062 [GRCh37]
Chr1:1q21.1		 likely benign
NM_003846.3(PEX11B):c.*6C>T single nucleotide variant PEX11B-related condition [RCV003959770] Chr1:145912155 [GRCh38]
Chr1:145522925 [GRCh37]
Chr1:1q21.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1137
Count of miRNA genes:323
Interacting mature miRNAs:351
Transcripts:ENST00000369306, ENST00000428634, ENST00000537888
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.

Markers in Region
WI-18366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,523,569 - 145,523,719UniSTSGRCh37
Build 361144,234,926 - 144,235,076RGDNCBI36
Celera1119,726,937 - 119,727,087RGD
Cytogenetic Map1q21UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1119,487,274 - 119,487,424UniSTS
GeneMap99-GB4 RH Map1516.19UniSTS
Whitehead-RH Map1609.6UniSTS
PMC55504P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,515,154 - 145,515,610UniSTSGRCh37
Build 361144,226,511 - 144,226,967RGDNCBI36
Celera1119,718,511 - 119,718,967RGD
Cytogenetic Map1q12UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1119,478,848 - 119,479,304UniSTS
PEX11B_1032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,523,106 - 145,523,858UniSTSGRCh37
Build 361144,234,463 - 144,235,215RGDNCBI36
Celera1119,726,474 - 119,727,226RGD
HuRef1119,486,811 - 119,487,563UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
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Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D11S3663  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map8q22.3UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2421 2426 1645 552 1630 394 4340 2035 3480 409 1448 1605 171 1165 2774 4
Low 11 558 78 70 318 70 15 158 228 9 3 39 14
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF093670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW162134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG423552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG435901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB155824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA157450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA175538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB054933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY108328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369306   ⟹   ENSP00000358312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,911,350 - 145,918,717 (-)Ensembl
RefSeq Acc Id: ENST00000428634   ⟹   ENSP00000414018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,911,350 - 145,912,406 (-)Ensembl
RefSeq Acc Id: ENST00000537888   ⟹   ENSP00000437510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,911,351 - 145,918,529 (-)Ensembl
RefSeq Acc Id: NM_001184795   ⟹   NP_001171724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,911,348 - 145,918,529 (-)NCBI
GRCh371145,516,165 - 145,523,732 (+)RGD
Celera1119,719,522 - 119,727,100 (+)RGD
HuRef1119,479,859 - 119,487,437 (+)ENTREZGENE
CHM1_11147,279,474 - 147,286,655 (-)NCBI
T2T-CHM13v2.01145,028,165 - 145,035,348 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003846   ⟹   NP_003837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,911,350 - 145,918,717 (-)NCBI
GRCh371145,516,165 - 145,523,732 (+)RGD
Build 361144,227,740 - 144,235,088 (+)NCBI Archive
Celera1119,719,522 - 119,727,100 (+)RGD
HuRef1119,479,859 - 119,487,437 (+)ENTREZGENE
CHM1_11147,279,474 - 147,287,050 (-)NCBI
T2T-CHM13v2.01145,028,167 - 145,035,536 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073491
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,911,350 - 145,918,717 (-)NCBI
GRCh371145,516,165 - 145,523,732 (+)NCBI
HuRef1119,479,859 - 119,487,437 (+)NCBI
CHM1_11147,279,474 - 147,287,050 (-)NCBI
T2T-CHM13v2.01145,028,167 - 145,035,536 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073492
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,911,350 - 145,918,717 (-)NCBI
GRCh371145,516,165 - 145,523,732 (+)NCBI
HuRef1119,479,859 - 119,487,437 (+)NCBI
CHM1_11147,279,474 - 147,287,050 (-)NCBI
T2T-CHM13v2.01145,028,167 - 145,035,536 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073493
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,911,348 - 145,918,458 (-)NCBI
GRCh371145,516,165 - 145,523,732 (+)NCBI
HuRef1119,479,859 - 119,487,437 (+)NCBI
CHM1_11147,279,474 - 147,286,584 (-)NCBI
T2T-CHM13v2.01145,028,165 - 145,035,277 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_003837   ⟸   NM_003846
- Peptide Label: isoform 1
- UniProtKB: B4DXH9 (UniProtKB/Swiss-Prot),   B3KN85 (UniProtKB/Swiss-Prot),   Q96ET2 (UniProtKB/Swiss-Prot),   O96011 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171724   ⟸   NM_001184795
- Peptide Label: isoform 2
- UniProtKB: O96011 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000414018   ⟸   ENST00000428634
RefSeq Acc Id: ENSP00000437510   ⟸   ENST00000537888
RefSeq Acc Id: ENSP00000358312   ⟸   ENST00000369306

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O96011-F1-model_v2 AlphaFold O96011 1-259 view protein structure

Promoters
RGD ID:6786217
Promoter ID:HG_KWN:4623
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001184795,   NM_003846
Position:
Human AssemblyChrPosition (strand)Source
Build 361144,227,526 - 144,228,026 (+)MPROMDB
RGD ID:6853504
Promoter ID:EP74579
Type:initiation region
Name:HS_PEX11B
Description:Peroxisomal biogenesis factor 11B.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361144,227,727 - 144,227,787EPD
RGD ID:6856834
Promoter ID:EPDNEW_H1582
Type:initiation region
Name:PEX11B_2
Description:peroxisomal biogenesis factor 11 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1583  EPDNEW_H1584  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,918,493 - 145,918,553EPDNEW
RGD ID:6856836
Promoter ID:EPDNEW_H1583
Type:initiation region
Name:PEX11B_1
Description:peroxisomal biogenesis factor 11 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1582  EPDNEW_H1584  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,918,717 - 145,918,777EPDNEW
RGD ID:6856838
Promoter ID:EPDNEW_H1584
Type:initiation region
Name:PEX11B_3
Description:peroxisomal biogenesis factor 11 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1582  EPDNEW_H1583  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,919,557 - 145,919,617EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8853 AgrOrtholog
COSMIC PEX11B COSMIC
Ensembl Genes ENSG00000131779 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000369306 ENTREZGENE
  ENST00000369306.8 UniProtKB/Swiss-Prot
  ENST00000428634.1 UniProtKB/TrEMBL
  ENST00000537888 ENTREZGENE
  ENST00000537888.1 UniProtKB/Swiss-Prot
GTEx ENSG00000131779 GTEx
HGNC ID HGNC:8853 ENTREZGENE
Human Proteome Map PEX11B Human Proteome Map
InterPro PEX11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8799 UniProtKB/Swiss-Prot
NCBI Gene 8799 ENTREZGENE
OMIM 603867 OMIM
PANTHER PEROXISOMAL BIOGENESIS FACTOR 11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEROXISOMAL MEMBRANE PROTEIN 11B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PEX11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33195 PharmGKB
UniProt B3KN85 ENTREZGENE
  B4DXH9 ENTREZGENE
  H7C3V6_HUMAN UniProtKB/TrEMBL
  O96011 ENTREZGENE, UniProtKB/Swiss-Prot
  Q96ET2 ENTREZGENE
UniProt Secondary B3KN85 UniProtKB/Swiss-Prot
  B4DXH9 UniProtKB/Swiss-Prot
  Q96ET2 UniProtKB/Swiss-Prot