FOXE3 (forkhead box E3) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: FOXE3 (forkhead box E3) Homo sapiens
Analyze
Symbol: FOXE3
Name: forkhead box E3
RGD ID: 1316815
HGNC Page HGNC:3808
Description: Enables DNA binding activity and DNA-binding transcription factor activity. Involved in several processes, including lens development in camera-type eye; mRNA transcription by RNA polymerase II; and positive regulation of lens epithelial cell proliferation. Acts upstream of or within transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Implicated in anterior segment dysgenesis; anterior segment dysgenesis 2; cataract 34 multiple types; and thoracic aortic aneurysm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AAT11; ASGD2; ASMD; CATC3; CTRCT34; FKHL12; forkhead box protein E3; forkhead, drosophila, homolog-like 12; forkhead-related protein FKHL12; forkhead-related transcription factor 8; FREAC-8; FREAC8
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38147,416,285 - 47,418,052 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl147,416,285 - 47,418,052 (+)EnsemblGRCh38hg38GRCh38
GRCh37147,881,957 - 47,883,724 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36147,654,331 - 47,656,311 (+)NCBINCBI36Build 36hg18NCBI36
Build 34147,593,763 - 47,595,743NCBI
Celera146,168,009 - 46,170,038 (+)NCBICelera
Cytogenetic Map1p33NCBI
HuRef145,998,176 - 46,000,072 (+)NCBIHuRef
CHM1_1147,998,586 - 48,000,566 (+)NCBICHM1_1
T2T-CHM13v2.0147,294,744 - 47,296,511 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of connective tissue  (IAGP)
Abnormality of vision  (IAGP)
Adult onset  (IAGP)
Aniridia  (IAGP)
Anterior segment of eye aplasia  (IAGP)
Anterior synechiae of the anterior chamber  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Aplasia/Hypoplasia affecting the anterior segment of the eye  (IAGP)
Arachnodactyly  (IAGP)
Ascending aortic dissection  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bruising susceptibility  (IAGP)
Cardiomegaly  (IAGP)
Carotid artery dilatation  (IAGP)
Cataract  (IAGP)
Central opacification of the cornea  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Coloboma  (IAGP)
Congenital aphakia  (IAGP)
Congenital onset  (IAGP)
Corneal opacity  (IAGP)
Corneal perforation  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Cutis marmorata  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Developmental glaucoma  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dural ectasia  (IAGP)
Exertional dyspnea  (IAGP)
Hemoptysis  (IAGP)
High, narrow palate  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypovolemia  (IAGP)
Inguinal hernia  (IAGP)
Ischemic stroke  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Nystagmus  (IAGP)
Ocular anterior segment dysgenesis  (IAGP)
Ocular hypertension  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic disc coloboma  (IAGP)
Paroxysmal dyspnea  (IAGP)
Patent ductus arteriosus  (IAGP)
Peripheral arterial stenosis  (IAGP)
Pes planus  (IAGP)
Peters anomaly  (IAGP)
Phthisis bulbi  (IAGP)
Pneumothorax  (IAGP)
Posterior synechiae of the anterior chamber  (IAGP)
Reduced visual acuity  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retrognathia  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Subcapsular cataract  (IAGP)
Tall stature  (IAGP)
Thinning of Descemet membrane  (IAGP)
Thoracic aortic aneurysm  (IAGP)
Transient ischemic attack  (IAGP)
Typified by incomplete penetrance  (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
6. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Semina EV, etal., Hum Mol Genet. 2001 Feb 1;10(3):231-6.
7. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Valleix S, etal., Am J Hum Genet. 2006 Aug;79(2):358-64. Epub 2006 Jun 8.
Additional References at PubMed
PMID:8825632   PMID:10652278   PMID:11980846   PMID:16199865   PMID:16710414   PMID:17064680   PMID:19274049   PMID:19708017   PMID:20140963   PMID:20301299   PMID:20301552   PMID:20361012  
PMID:20630806   PMID:20664696   PMID:20806047   PMID:21150893   PMID:21873635   PMID:22204637   PMID:22527307   PMID:24019743   PMID:24689660   PMID:25504734   PMID:26854927   PMID:27218149  
PMID:27669367   PMID:28805541   PMID:29136273   PMID:29713869   PMID:29878917   PMID:31831170   PMID:32976546   PMID:33961781   PMID:34046667   PMID:37640964   PMID:37758467  


Genomics

Comparative Map Data
FOXE3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38147,416,285 - 47,418,052 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl147,416,285 - 47,418,052 (+)EnsemblGRCh38hg38GRCh38
GRCh37147,881,957 - 47,883,724 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36147,654,331 - 47,656,311 (+)NCBINCBI36Build 36hg18NCBI36
Build 34147,593,763 - 47,595,743NCBI
Celera146,168,009 - 46,170,038 (+)NCBICelera
Cytogenetic Map1p33NCBI
HuRef145,998,176 - 46,000,072 (+)NCBIHuRef
CHM1_1147,998,586 - 48,000,566 (+)NCBICHM1_1
T2T-CHM13v2.0147,294,744 - 47,296,511 (+)NCBIT2T-CHM13v2.0
Foxe3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394114,781,640 - 114,783,264 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4114,782,344 - 114,783,210 (-)EnsemblGRCm39 Ensembl
GRCm384114,924,443 - 114,926,067 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4114,925,147 - 114,926,013 (-)EnsemblGRCm38mm10GRCm38
MGSCv374114,597,752 - 114,598,618 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364114,423,079 - 114,423,945 (-)NCBIMGSCv36mm8
Celera4113,672,921 - 113,673,787 (-)NCBICelera
Cytogenetic Map4D1NCBI
cM Map452.73NCBI
Foxe3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85133,681,684 - 133,683,266 (-)NCBIGRCr8
mRatBN7.25128,444,912 - 128,446,494 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5128,445,594 - 128,446,454 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5131,134,744 - 131,135,604 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05132,864,382 - 132,865,242 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05132,886,063 - 132,886,923 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05133,724,796 - 133,725,656 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5133,724,796 - 133,725,656 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05137,517,035 - 137,517,895 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45135,285,688 - 135,286,548 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15135,291,289 - 135,291,591 (-)NCBI
Celera5127,097,587 - 127,098,447 (-)NCBICelera
Cytogenetic Map5q35NCBI
FOXE3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21179,398,703 - 179,400,477 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11178,540,120 - 178,541,894 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0146,710,791 - 46,712,771 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
FOXE3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11513,291,160 - 13,295,982 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1513,445,213 - 13,446,211 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01513,441,830 - 13,442,846 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1513,441,830 - 13,443,020 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11513,241,940 - 13,242,931 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01513,309,628 - 13,310,638 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01513,379,114 - 13,380,118 (-)NCBIUU_Cfam_GSD_1.0
Foxe3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505862,386,321 - 62,388,211 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647428,211,313 - 28,212,272 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647428,211,144 - 28,212,963 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXE3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6164,132,034 - 164,133,011 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16164,130,638 - 164,133,218 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26151,682,360 - 151,687,569 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FOXE3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12085,502,938 - 85,505,158 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2085,504,126 - 85,505,076 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603331,577,474 - 31,579,685 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Foxe3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248595,412,280 - 5,414,737 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FOXE3
362 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012186.3(FOXE3):c.959G>T (p.Ter320Leu) single nucleotide variant Congenital primary aphakia [RCV000023071] Chr1:47417274 [GRCh38]
Chr1:47882946 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.942dup (p.Leu315fs) duplication Congenital primary aphakia [RCV000008962] Chr1:47417253..47417254 [GRCh38]
Chr1:47882925..47882926 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) single nucleotide variant Anterior segment dysgenesis [RCV001200038]|Congenital primary aphakia [RCV000008963]|not provided [RCV000255267] Chr1:47417035 [GRCh38]
Chr1:47882707 [GRCh37]
Chr1:1p33		 pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
NM_012186.3(FOXE3):c.618C>G (p.Ala206=) single nucleotide variant Cardiovascular phenotype [RCV002354446]|Congenital primary aphakia [RCV001512741]|not provided [RCV001668331]|not specified [RCV000173421] Chr1:47416933 [GRCh38]
Chr1:47882605 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) single nucleotide variant Cardiovascular phenotype [RCV002336418]|Congenital primary aphakia [RCV001517596]|Congenital primary aphakia [RCV002500455]|Congenital primary aphakia [RCV003343670]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485547]|not provided [RCV001711462]|not specified [RCV000173422] Chr1:47416825 [GRCh38]
Chr1:47882497 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys) single nucleotide variant Congenital primary aphakia [RCV001047306] Chr1:47416802 [GRCh38]
Chr1:47882474 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser) single nucleotide variant Congenital primary aphakia [RCV001349251] Chr1:47416728 [GRCh38]
Chr1:47882400 [GRCh37]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_012186.3(FOXE3):c.-14G>A single nucleotide variant not provided [RCV001668527]|not specified [RCV000248715] Chr1:47416302 [GRCh38]
Chr1:47881974 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) single nucleotide variant Cardiovascular phenotype [RCV002328744]|Congenital primary aphakia [RCV000878330]|not provided [RCV001683064]|not specified [RCV000253678] Chr1:47416738 [GRCh38]
Chr1:47882410 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) single nucleotide variant Congenital primary aphakia [RCV000521849]|Congenital primary aphakia [RCV001062090]|Inborn genetic diseases [RCV002527046]|not provided [RCV003736793] Chr1:47416547 [GRCh38]
Chr1:47882219 [GRCh37]
Chr1:1p33		 likely pathogenic|uncertain significance
NM_012186.3(FOXE3):c.225G>C (p.Ser75=) single nucleotide variant not provided [RCV000378286] Chr1:47416540 [GRCh38]
Chr1:47882212 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) single nucleotide variant Cardiovascular phenotype [RCV002374481]|Congenital primary aphakia [RCV000877879]|not provided [RCV001726089]|not specified [RCV000282419] Chr1:47417244 [GRCh38]
Chr1:47882916 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.135G>T (p.Ala45=) single nucleotide variant not provided [RCV000282924] Chr1:47416450 [GRCh38]
Chr1:47882122 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.834C>T (p.Pro278=) single nucleotide variant Cardiovascular phenotype [RCV002436100]|Congenital primary aphakia [RCV001087380]|not provided [RCV000390108] Chr1:47417149 [GRCh38]
Chr1:47882821 [GRCh37]
Chr1:1p33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) single nucleotide variant Cardiovascular phenotype [RCV002401998]|Congenital primary aphakia [RCV000878654]|not provided [RCV001651321]|not specified [RCV000356268] Chr1:47416331 [GRCh38]
Chr1:47882003 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala) single nucleotide variant Congenital primary aphakia [RCV003765617]|not provided [RCV000357491] Chr1:47416443 [GRCh38]
Chr1:47882115 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) single nucleotide variant Cardiovascular phenotype [RCV002374472]|Congenital primary aphakia [RCV000877910]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485570]|not provided [RCV002509349]|not specified [RCV000325906] Chr1:47417213 [GRCh38]
Chr1:47882885 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.295C>T (p.Arg99Cys) single nucleotide variant not provided [RCV000300028] Chr1:47416610 [GRCh38]
Chr1:47882282 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr) single nucleotide variant Congenital primary aphakia [RCV001062398]|not provided [RCV000489034] Chr1:47417240 [GRCh38]
Chr1:47882912 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.139G>T (p.Gly47Cys) single nucleotide variant not provided [RCV000596121] Chr1:47416454 [GRCh38]
Chr1:47882126 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) single nucleotide variant Cardiovascular phenotype [RCV002358538]|Congenital primary aphakia [RCV000552119]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485602]|not provided [RCV001573196]|not specified [RCV000600499] Chr1:47416902 [GRCh38]
Chr1:47882574 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) single nucleotide variant Congenital primary aphakia [RCV000523691]|Congenital primary aphakia [RCV003766755] Chr1:47416625 [GRCh38]
Chr1:47882297 [GRCh37]
Chr1:1p33		 likely pathogenic|uncertain significance
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala) single nucleotide variant Anterior segment dysgenesis 1 [RCV000986320]|Cardiovascular phenotype [RCV002395535]|Congenital primary aphakia [RCV000877852]|not provided [RCV001724072]|not specified [RCV000591484] Chr1:47416461 [GRCh38]
Chr1:47882133 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.307G>A (p.Glu103Lys) single nucleotide variant Cataract 34 multiple types [RCV000412546] Chr1:47416622 [GRCh38]
Chr1:47882294 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) single nucleotide variant Cataract 34 multiple types [RCV000412651]|Congenital primary aphakia [RCV002230746] Chr1:47416666 [GRCh38]
Chr1:47882338 [GRCh37]
Chr1:1p33		 pathogenic|uncertain significance
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu) single nucleotide variant Congenital aneurysm of ascending aorta [RCV000755154]|Congenital primary aphakia [RCV001855860] Chr1:47416920 [GRCh38]
Chr1:47882592 [GRCh37]
Chr1:1p33		 likely benign|uncertain significance
NM_012186.3(FOXE3):c.234G>A (p.Ala78=) single nucleotide variant Cardiovascular phenotype [RCV002446701]|Congenital primary aphakia [RCV000945941]|FOXE3-related condition [RCV003970181]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485583]|not provided [RCV003409600]|not specified [RCV000429091] Chr1:47416549 [GRCh38]
Chr1:47882221 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.224C>T (p.Ser75Leu) single nucleotide variant not provided [RCV000428616] Chr1:47416539 [GRCh38]
Chr1:47882211 [GRCh37]
Chr1:1p33		 likely pathogenic
NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys) single nucleotide variant Congenital primary aphakia [RCV001861538]|not provided [RCV000439291] Chr1:47416746 [GRCh38]
Chr1:47882418 [GRCh37]
Chr1:1p33		 likely pathogenic|uncertain significance
NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp) single nucleotide variant Aortic aneurysm, familial thoracic 11, susceptibility to [RCV000417124]|Congenital aneurysm of ascending aorta [RCV000755149] Chr1:47416725 [GRCh38]
Chr1:47882397 [GRCh37]
Chr1:1p33		 likely pathogenic|risk factor
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) single nucleotide variant Aortic aneurysm, familial thoracic 11, susceptibility to [RCV000417170]|Cardiovascular phenotype [RCV002338979]|Congenital aneurysm of ascending aorta [RCV000755150]|Congenital primary aphakia [RCV001861471] Chr1:47416772 [GRCh38]
Chr1:47882444 [GRCh37]
Chr1:1p33		 pathogenic|likely pathogenic|risk factor|uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 copy number loss See cases [RCV000448358] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3		 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 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_012186.3(FOXE3):c.781C>G (p.Leu261Val) single nucleotide variant Cardiovascular phenotype [RCV003301458]|Congenital primary aphakia [RCV003777162] Chr1:47417096 [GRCh38]
Chr1:47882768 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.548C>A (p.Pro183Gln) single nucleotide variant Cardiovascular phenotype [RCV003301459] Chr1:47416863 [GRCh38]
Chr1:47882535 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu) single nucleotide variant Cardiovascular phenotype [RCV003301460]|Congenital primary aphakia [RCV003777163] Chr1:47417187 [GRCh38]
Chr1:47882859 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys) single nucleotide variant Cardiovascular phenotype [RCV002413673]|Congenital primary aphakia [RCV000823149]|not provided [RCV000595170] Chr1:47416421 [GRCh38]
Chr1:47882093 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.170C>G (p.Pro57Arg) single nucleotide variant Congenital primary aphakia [RCV003779941]|Inborn genetic diseases [RCV003261157] Chr1:47416485 [GRCh38]
Chr1:47882157 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.906G>T (p.Gly302=) single nucleotide variant not provided [RCV000658510] Chr1:47417221 [GRCh38]
Chr1:47882893 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) single nucleotide variant Congenital aneurysm of ascending aorta [RCV000755151]|Congenital primary aphakia [RCV002536552] Chr1:47416805 [GRCh38]
Chr1:47882477 [GRCh37]
Chr1:1p33		 likely pathogenic|uncertain significance
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn) single nucleotide variant Cardiovascular phenotype [RCV002334416]|Congenital aneurysm of ascending aorta [RCV000755152]|Congenital primary aphakia [RCV001429583] Chr1:47416781 [GRCh38]
Chr1:47882453 [GRCh37]
Chr1:1p33		 likely benign|uncertain significance
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg) single nucleotide variant Cardiovascular phenotype [RCV002363143]|Congenital primary aphakia [RCV002235119] Chr1:47416944 [GRCh38]
Chr1:47882616 [GRCh37]
Chr1:1p33		 uncertain significance
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
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) single nucleotide variant Cardiovascular phenotype [RCV002325454]|Congenital aneurysm of ascending aorta [RCV000755153]|Congenital primary aphakia [RCV001062207]|not provided [RCV001703236] Chr1:47416649 [GRCh38]
Chr1:47882321 [GRCh37]
Chr1:1p33		 likely benign|uncertain significance
NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln) single nucleotide variant Congenital primary aphakia [RCV001068315] Chr1:47416923 [GRCh38]
Chr1:47882595 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.276C>T (p.Leu92=) single nucleotide variant Cardiovascular phenotype [RCV002434165]|Congenital primary aphakia [RCV000878655]|not provided [RCV001565577]|not specified [RCV003330985] Chr1:47416591 [GRCh38]
Chr1:47882263 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.837C>T (p.Gly279=) single nucleotide variant Cardiovascular phenotype [RCV003307756]|Congenital primary aphakia [RCV001469703] Chr1:47417152 [GRCh38]
Chr1:47882824 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu) single nucleotide variant Cardiovascular phenotype [RCV002399973]|Congenital primary aphakia [RCV000878471]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485656]|not provided [RCV001558097] Chr1:47416473 [GRCh38]
Chr1:47882145 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.181del (p.Arg61fs) deletion Congenital primary aphakia [RCV001041075] Chr1:47416496 [GRCh38]
Chr1:47882168 [GRCh37]
Chr1:1p33		 likely pathogenic
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) single nucleotide variant Cardiovascular phenotype [RCV003380832]|Congenital primary aphakia [RCV001062223]|not provided [RCV002265001] Chr1:47416367 [GRCh38]
Chr1:47882039 [GRCh37]
Chr1:1p33		 uncertain significance|not provided
NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser) single nucleotide variant Congenital primary aphakia [RCV001038118] Chr1:47417153 [GRCh38]
Chr1:47882825 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser) single nucleotide variant Cardiovascular phenotype [RCV002374914]|Congenital primary aphakia [RCV001052551]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485678]|not provided [RCV001725209] Chr1:47417018 [GRCh38]
Chr1:47882690 [GRCh37]
Chr1:1p33		 likely benign|uncertain significance
NM_012186.3(FOXE3):c.861G>A (p.Leu287=) single nucleotide variant Congenital primary aphakia [RCV000977957] Chr1:47417176 [GRCh38]
Chr1:47882848 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) single nucleotide variant Cardiovascular phenotype [RCV002354704]|Congenital primary aphakia [RCV000877793]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485655]|not provided [RCV001672978]|not specified [RCV003323754] Chr1:47416916 [GRCh38]
Chr1:47882588 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.6G>C (p.Ala2=) single nucleotide variant Cardiovascular phenotype [RCV002363379]|Congenital primary aphakia [RCV000920306] Chr1:47416321 [GRCh38]
Chr1:47881993 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.828C>G (p.Pro276=) single nucleotide variant Cardiovascular phenotype [RCV002427393]|Congenital primary aphakia [RCV000958455]|not provided [RCV001532536]|not specified [RCV001699478] Chr1:47417143 [GRCh38]
Chr1:47882815 [GRCh37]
Chr1:1p33		 benign|likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) single nucleotide variant Cataract 34 multiple types [RCV003492182]|Congenital primary aphakia [RCV000826107]|Congenital primary aphakia [RCV001386842]|FOXE3-related condition [RCV003413666]|not provided [RCV001092681] Chr1:47416559 [GRCh38]
Chr1:47882231 [GRCh37]
Chr1:1p33		 pathogenic|likely pathogenic
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly) single nucleotide variant Aortic aneurysm, familial thoracic 11, susceptibility to [RCV002290450]|Cardiovascular phenotype [RCV002325568]|Congenital primary aphakia [RCV000806142] Chr1:47416719 [GRCh38]
Chr1:47882391 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.893C>T (p.Pro298Leu) single nucleotide variant Congenital primary aphakia [RCV002233887] Chr1:47417208 [GRCh38]
Chr1:47882880 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.712C>T (p.Pro238Ser) single nucleotide variant Congenital primary aphakia [RCV002234720] Chr1:47417027 [GRCh38]
Chr1:47882699 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer) microsatellite Congenital primary aphakia [RCV000792091]|Congenital primary aphakia [RCV001391239] Chr1:47417150..47417151 [GRCh38]
Chr1:47882822..47882823 [GRCh37]
Chr1:1p33		 pathogenic|uncertain significance
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) single nucleotide variant Cardiovascular phenotype [RCV002345765]|Congenital primary aphakia [RCV000797801]|not provided [RCV001172214] Chr1:47416842 [GRCh38]
Chr1:47882514 [GRCh37]
Chr1:1p33		 likely benign|uncertain significance
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1]) microsatellite Anterior segment dysgenesis 1 [RCV000845078]|Cardiovascular phenotype [RCV002352416]|Congenital primary aphakia [RCV000811991] Chr1:47416888..47416893 [GRCh38]
Chr1:47882560..47882565 [GRCh37]
Chr1:1p33		 uncertain significance|not provided
NM_012186.3(FOXE3):c.542G>A (p.Gly181Glu) single nucleotide variant Congenital primary aphakia [RCV001229605] Chr1:47416857 [GRCh38]
Chr1:47882529 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala) single nucleotide variant Cardiovascular phenotype [RCV002327466]|Congenital primary aphakia [RCV001204629]|FOXE3-related condition [RCV003398931] Chr1:47416730 [GRCh38]
Chr1:47882402 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser) single nucleotide variant Congenital primary aphakia [RCV001209859] Chr1:47417024 [GRCh38]
Chr1:47882696 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.77G>A (p.Gly26Glu) single nucleotide variant Congenital primary aphakia [RCV001995489] Chr1:47416392 [GRCh38]
Chr1:47882064 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.554C>T (p.Pro185Leu) single nucleotide variant Congenital primary aphakia [RCV001996301] Chr1:47416869 [GRCh38]
Chr1:47882541 [GRCh37]
Chr1:1p33		 uncertain significance
NC_000001.11:g.47416244dup duplication not provided [RCV001616588] Chr1:47416235..47416236 [GRCh38]
Chr1:47881907..47881908 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.777G>A (p.Pro259=) single nucleotide variant Cardiovascular phenotype [RCV002409204]|Congenital primary aphakia [RCV001479126] Chr1:47417092 [GRCh38]
Chr1:47882764 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.204G>C (p.Gln68His) single nucleotide variant Congenital primary aphakia [RCV001207258] Chr1:47416519 [GRCh38]
Chr1:47882191 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr) single nucleotide variant Cardiovascular phenotype [RCV002365771]|Congenital primary aphakia [RCV001068294] Chr1:47416376 [GRCh38]
Chr1:47882048 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.726G>T (p.Ala242=) single nucleotide variant not provided [RCV001092682] Chr1:47417041 [GRCh38]
Chr1:47882713 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg) single nucleotide variant Cardiovascular phenotype [RCV002393545]|Congenital primary aphakia [RCV001224149] Chr1:47416460 [GRCh38]
Chr1:47882132 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg) single nucleotide variant Cardiovascular phenotype [RCV002365775]|Congenital primary aphakia [RCV001069162] Chr1:47416940 [GRCh38]
Chr1:47882612 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro) single nucleotide variant Congenital primary aphakia [RCV001211717]|Inborn genetic diseases [RCV003373036] Chr1:47416653 [GRCh38]
Chr1:47882325 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.956T>A (p.Leu319Gln) single nucleotide variant Congenital primary aphakia [RCV001067727] Chr1:47417271 [GRCh38]
Chr1:47882943 [GRCh37]
Chr1:1p33		 uncertain significance
NC_000001.11:g.47416272C>T single nucleotide variant not provided [RCV001570369] Chr1:47416272 [GRCh38]
Chr1:47881944 [GRCh37]
Chr1:1p33		 likely benign
NC_000001.11:g.47416226G>T single nucleotide variant not provided [RCV001719622] Chr1:47416226 [GRCh38]
Chr1:47881898 [GRCh37]
Chr1:1p33		 benign
GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1 copy number loss not provided [RCV001005086] Chr1:47272184..52505405 [GRCh37]
Chr1:1p33-32.3		 pathogenic
NM_012186.3(FOXE3):c.*77A>G single nucleotide variant not provided [RCV001635636] Chr1:47417352 [GRCh38]
Chr1:47883024 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.617C>A (p.Ala206Asp) single nucleotide variant not provided [RCV001658857] Chr1:47416932 [GRCh38]
Chr1:47882604 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val) single nucleotide variant Cardiovascular phenotype [RCV002348839]|Congenital primary aphakia [RCV001245955] Chr1:47416881 [GRCh38]
Chr1:47882553 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.*72T>C single nucleotide variant not provided [RCV001680779] Chr1:47417347 [GRCh38]
Chr1:47883019 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del) deletion Congenital primary aphakia [RCV001035298] Chr1:47416442..47416462 [GRCh38]
Chr1:47882114..47882134 [GRCh37]
Chr1:1p33		 uncertain significance
NC_000001.11:g.47416245C>G single nucleotide variant not provided [RCV001590105] Chr1:47416245 [GRCh38]
Chr1:47881917 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser) single nucleotide variant Cardiovascular phenotype [RCV002375151]|Congenital primary aphakia [RCV001208441] Chr1:47416406 [GRCh38]
Chr1:47882078 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu) single nucleotide variant Cardiovascular phenotype [RCV003380914]|Congenital primary aphakia [RCV001233447] Chr1:47416584 [GRCh38]
Chr1:47882256 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) single nucleotide variant Cardiovascular phenotype [RCV002365937]|Congenital primary aphakia [RCV001208683]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485688] Chr1:47416934 [GRCh38]
Chr1:47882606 [GRCh37]
Chr1:1p33		 likely benign|uncertain significance
NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr) single nucleotide variant Cardiovascular phenotype [RCV002379497]|Congenital primary aphakia [RCV001039618] Chr1:47417051 [GRCh38]
Chr1:47882723 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) microsatellite Cardiovascular phenotype [RCV002348719]|Congenital primary aphakia [RCV001215819]|not provided [RCV001702586] Chr1:47416873..47416874 [GRCh38]
Chr1:47882545..47882546 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp) single nucleotide variant Congenital primary aphakia [RCV001233690] Chr1:47416581 [GRCh38]
Chr1:47882253 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.291C>G (p.Ile97Met) single nucleotide variant Congenital primary aphakia [RCV001203942]|Congenital primary aphakia [RCV001391236] Chr1:47416606 [GRCh38]
Chr1:47882278 [GRCh37]
Chr1:1p33		 pathogenic|likely pathogenic|uncertain significance
NM_012186.3(FOXE3):c.812T>C (p.Leu271Pro) single nucleotide variant Congenital primary aphakia [RCV001231861] Chr1:47417127 [GRCh38]
Chr1:47882799 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys) single nucleotide variant Congenital primary aphakia [RCV001197178]|Congenital primary aphakia [RCV002559256] Chr1:47416673 [GRCh38]
Chr1:47882345 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly) single nucleotide variant Cardiovascular phenotype [RCV002434443]|Congenital primary aphakia [RCV001038937] Chr1:47416602 [GRCh38]
Chr1:47882274 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu) single nucleotide variant Congenital primary aphakia [RCV001304367] Chr1:47417169 [GRCh38]
Chr1:47882841 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) single nucleotide variant Congenital primary aphakia [RCV001267882] Chr1:47416604 [GRCh38]
Chr1:47882276 [GRCh37]
Chr1:1p33		 pathogenic|likely pathogenic
NM_012186.3(FOXE3):c.191G>T (p.Arg64Leu) single nucleotide variant Congenital primary aphakia [RCV001307260] Chr1:47416506 [GRCh38]
Chr1:47882178 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr) single nucleotide variant Congenital primary aphakia [RCV001343098] Chr1:47416412 [GRCh38]
Chr1:47882084 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.19A>G (p.Met7Val) single nucleotide variant Cardiovascular phenotype [RCV002418922]|Congenital primary aphakia [RCV001304657] Chr1:47416334 [GRCh38]
Chr1:47882006 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.711G>T (p.Pro237=) single nucleotide variant Congenital primary aphakia [RCV001415465]|FOXE3-related condition [RCV003908608] Chr1:47417026 [GRCh38]
Chr1:47882698 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.543G>T (p.Gly181=) single nucleotide variant Congenital primary aphakia [RCV001480053]|not provided [RCV001358394] Chr1:47416858 [GRCh38]
Chr1:47882530 [GRCh37]
Chr1:1p33		 likely benign|uncertain significance
NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp) single nucleotide variant Cardiovascular phenotype [RCV002411935]|Congenital primary aphakia [RCV001294475] Chr1:47416493 [GRCh38]
Chr1:47882165 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.701C>T (p.Ala234Val) single nucleotide variant Congenital primary aphakia [RCV001316212] Chr1:47417016 [GRCh38]
Chr1:47882688 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.163C>A (p.Pro55Thr) single nucleotide variant not provided [RCV001311633] Chr1:47416478 [GRCh38]
Chr1:47882150 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr) single nucleotide variant Congenital primary aphakia [RCV001301227] Chr1:47416481 [GRCh38]
Chr1:47882153 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.663C>G (p.Ser221Arg) single nucleotide variant Congenital primary aphakia [RCV001369729] Chr1:47416978 [GRCh38]
Chr1:47882650 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser) single nucleotide variant Congenital primary aphakia [RCV001366996] Chr1:47416598 [GRCh38]
Chr1:47882270 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.672C>G (p.Asn224Lys) single nucleotide variant Congenital primary aphakia [RCV001306979] Chr1:47416987 [GRCh38]
Chr1:47882659 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.849T>C (p.Ala283=) single nucleotide variant Cardiovascular phenotype [RCV002449143]|Congenital primary aphakia [RCV001421549]|FOXE3-related condition [RCV003920917] Chr1:47417164 [GRCh38]
Chr1:47882836 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.851A>G (p.Glu284Gly) single nucleotide variant Congenital primary aphakia [RCV001313797] Chr1:47417166 [GRCh38]
Chr1:47882838 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.789G>A (p.Ser263=) single nucleotide variant Congenital primary aphakia [RCV001419979]|FOXE3-related condition [RCV003900447] Chr1:47417104 [GRCh38]
Chr1:47882776 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.819G>A (p.Ala273=) single nucleotide variant Congenital primary aphakia [RCV001502491] Chr1:47417134 [GRCh38]
Chr1:47882806 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.831C>A (p.Gly277=) single nucleotide variant Congenital primary aphakia [RCV001503307] Chr1:47417146 [GRCh38]
Chr1:47882818 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.526_539del (p.Ala176fs) deletion Cardiovascular phenotype [RCV003375277]|Congenital primary aphakia [RCV001390015] Chr1:47416840..47416853 [GRCh38]
Chr1:47882512..47882525 [GRCh37]
Chr1:1p33		 pathogenic|uncertain significance
NM_012186.3(FOXE3):c.324C>T (p.Tyr108=) single nucleotide variant Cardiovascular phenotype [RCV002449300]|Congenital primary aphakia [RCV001492761] Chr1:47416639 [GRCh38]
Chr1:47882311 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.51T>C (p.Pro17=) single nucleotide variant Cardiovascular phenotype [RCV002342023]|Congenital primary aphakia [RCV001459933]|not specified [RCV003331161] Chr1:47416366 [GRCh38]
Chr1:47882038 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.144C>G (p.Arg48=) single nucleotide variant Congenital primary aphakia [RCV001442439] Chr1:47416459 [GRCh38]
Chr1:47882131 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.813G>A (p.Leu271=) single nucleotide variant Cardiovascular phenotype [RCV002421142]|Congenital primary aphakia [RCV001500552]|FOXE3-related condition [RCV003931024] Chr1:47417128 [GRCh38]
Chr1:47882800 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.405G>A (p.Glu135=) single nucleotide variant Cardiovascular phenotype [RCV002324113]|Congenital primary aphakia [RCV001505810]|FOXE3-related condition [RCV003921062] Chr1:47416720 [GRCh38]
Chr1:47882392 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.240C>T (p.Ile80=) single nucleotide variant Cardiovascular phenotype [RCV002449253]|Congenital primary aphakia [RCV001469736]|FOXE3-related condition [RCV003908713]|not provided [RCV003405680] Chr1:47416555 [GRCh38]
Chr1:47882227 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.492C>T (p.Arg164=) single nucleotide variant Congenital primary aphakia [RCV001463946] Chr1:47416807 [GRCh38]
Chr1:47882479 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.876G>A (p.Pro292=) single nucleotide variant Cardiovascular phenotype [RCV003160673]|Congenital primary aphakia [RCV001417056] Chr1:47417191 [GRCh38]
Chr1:47882863 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.489C>T (p.Arg163=) single nucleotide variant Congenital primary aphakia [RCV001417271] Chr1:47416804 [GRCh38]
Chr1:47882476 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.447C>G (p.Pro149=) single nucleotide variant Congenital primary aphakia [RCV001431136] Chr1:47416762 [GRCh38]
Chr1:47882434 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.882C>G (p.Ala294=) single nucleotide variant Cardiovascular phenotype [RCV002377635]|Congenital primary aphakia [RCV001408227]|FOXE3-related condition [RCV003963294] Chr1:47417197 [GRCh38]
Chr1:47882869 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.21_24del (p.Met7fs) deletion Congenital primary aphakia [RCV001391232]|Congenital primary aphakia [RCV003771269] Chr1:47416334..47416337 [GRCh38]
Chr1:47882006..47882009 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.148_170dup (p.Gly58fs) duplication Congenital primary aphakia [RCV001391233] Chr1:47416462..47416463 [GRCh38]
Chr1:47882134..47882135 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.286G>A (p.Ala96Thr) single nucleotide variant Congenital primary aphakia [RCV001391234] Chr1:47416601 [GRCh38]
Chr1:47882273 [GRCh37]
Chr1:1p33		 likely pathogenic
NM_012186.3(FOXE3):c.543del (p.Pro182fs) deletion Congenital primary aphakia [RCV001391235] Chr1:47416856 [GRCh38]
Chr1:47882528 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.359G>C (p.Arg120Pro) single nucleotide variant Congenital primary aphakia [RCV001391237] Chr1:47416674 [GRCh38]
Chr1:47882346 [GRCh37]
Chr1:1p33		 likely pathogenic
NM_012186.3(FOXE3):c.371C>T (p.Thr124Met) single nucleotide variant Cardiovascular phenotype [RCV002350734]|Congenital primary aphakia [RCV001391238] Chr1:47416686 [GRCh38]
Chr1:47882358 [GRCh37]
Chr1:1p33		 likely pathogenic|uncertain significance
NM_012186.3(FOXE3):c.959G>C (p.Ter320Ser) single nucleotide variant Cataract 34 multiple types [RCV001391240] Chr1:47417274 [GRCh38]
Chr1:47882946 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.958T>C (p.Ter320Arg) single nucleotide variant Cataract 34 multiple types [RCV001391241] Chr1:47417273 [GRCh38]
Chr1:47882945 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.570C>T (p.Pro190=) single nucleotide variant Cardiovascular phenotype [RCV002350837]|Congenital primary aphakia [RCV001427392] Chr1:47416885 [GRCh38]
Chr1:47882557 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.75G>C (p.Ser25=) single nucleotide variant Congenital primary aphakia [RCV001429719] Chr1:47416390 [GRCh38]
Chr1:47882062 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.171C>A (p.Pro57=) single nucleotide variant Congenital primary aphakia [RCV001448579] Chr1:47416486 [GRCh38]
Chr1:47882158 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.942G>T (p.Gly314=) single nucleotide variant Congenital primary aphakia [RCV001482027] Chr1:47417257 [GRCh38]
Chr1:47882929 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.282G>A (p.Leu94=) single nucleotide variant Congenital primary aphakia [RCV001486180] Chr1:47416597 [GRCh38]
Chr1:47882269 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.138T>C (p.Ala46=) single nucleotide variant Cardiovascular phenotype [RCV002396048]|Congenital primary aphakia [RCV001451684] Chr1:47416453 [GRCh38]
Chr1:47882125 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.804C>T (p.Arg268=) single nucleotide variant Cardiovascular phenotype [RCV003160821]|Congenital primary aphakia [RCV001451290] Chr1:47417119 [GRCh38]
Chr1:47882791 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.105C>T (p.Ala35=) single nucleotide variant Congenital primary aphakia [RCV001431083] Chr1:47416420 [GRCh38]
Chr1:47882092 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.132G>A (p.Ala44=) single nucleotide variant Cardiovascular phenotype [RCV002384731]|Congenital primary aphakia [RCV001460403] Chr1:47416447 [GRCh38]
Chr1:47882119 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.585C>G (p.Pro195=) single nucleotide variant Cardiovascular phenotype [RCV002359042]|Congenital primary aphakia [RCV001467192] Chr1:47416900 [GRCh38]
Chr1:47882572 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.624G>C (p.Pro208=) single nucleotide variant Congenital primary aphakia [RCV001464594] Chr1:47416939 [GRCh38]
Chr1:47882611 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.831C>T (p.Gly277=) single nucleotide variant Cardiovascular phenotype [RCV002424956]|Congenital primary aphakia [RCV001519765]|not specified [RCV003331173] Chr1:47417146 [GRCh38]
Chr1:47882818 [GRCh37]
Chr1:1p33		 benign|likely benign
NM_012186.3(FOXE3):c.378C>T (p.Asn126=) single nucleotide variant Cardiovascular phenotype [RCV002368361]|Congenital primary aphakia [RCV001441406] Chr1:47416693 [GRCh38]
Chr1:47882365 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.224C>A (p.Ser75Ter) single nucleotide variant not provided [RCV001781126] Chr1:47416539 [GRCh38]
Chr1:47882211 [GRCh37]
Chr1:1p33		 likely pathogenic
NM_012186.3(FOXE3):c.206G>A (p.Arg69His) single nucleotide variant not provided [RCV001767200] Chr1:47416521 [GRCh38]
Chr1:47882193 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.398C>A (p.Pro133His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001788849] Chr1:47416713 [GRCh38]
Chr1:47882385 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.471C>G (p.Asn157Lys) single nucleotide variant not provided [RCV001763162] Chr1:47416786 [GRCh38]
Chr1:47882458 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.473G>A (p.Gly158Asp) single nucleotide variant not provided [RCV001770642] Chr1:47416788 [GRCh38]
Chr1:47882460 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.932_944del (p.Phe311fs) deletion Congenital primary aphakia [RCV003772180]|not provided [RCV001794679] Chr1:47417242..47417254 [GRCh38]
Chr1:47882914..47882926 [GRCh37]
Chr1:1p33		 likely pathogenic|uncertain significance
NM_012186.3(FOXE3):c.559C>T (p.Pro187Ser) single nucleotide variant Cardiovascular phenotype [RCV003299017]|not provided [RCV001816057] Chr1:47416874 [GRCh38]
Chr1:47882546 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.167C>T (p.Ala56Val) single nucleotide variant Congenital primary aphakia [RCV002040657] Chr1:47416482 [GRCh38]
Chr1:47882154 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.179GGC[7] (p.Arg65dup) microsatellite Congenital primary aphakia [RCV002009186] Chr1:47416493..47416494 [GRCh38]
Chr1:47882165..47882166 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.340A>C (p.Lys114Gln) single nucleotide variant Congenital primary aphakia [RCV002026287]|Inborn genetic diseases [RCV003161230] Chr1:47416655 [GRCh38]
Chr1:47882327 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.341A>G (p.Lys114Arg) single nucleotide variant Congenital primary aphakia [RCV001999300] Chr1:47416656 [GRCh38]
Chr1:47882328 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.830G>A (p.Gly277Asp) single nucleotide variant Congenital primary aphakia [RCV002026112] Chr1:47417145 [GRCh38]
Chr1:47882817 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.562TACGCGCCC[1] (p.188YAP[1]) microsatellite Congenital primary aphakia [RCV001998928] Chr1:47416874..47416882 [GRCh38]
Chr1:47882546..47882554 [GRCh37]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) copy number loss not specified [RCV002053281] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3		 likely pathogenic
NM_012186.3(FOXE3):c.22G>C (p.Asp8His) single nucleotide variant Congenital primary aphakia [RCV002014657] Chr1:47416337 [GRCh38]
Chr1:47882009 [GRCh37]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser) single nucleotide variant Cardiovascular phenotype [RCV002388984]|Congenital primary aphakia [RCV002028163] Chr1:47416466 [GRCh38]
Chr1:47882138 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.2del (p.Met1fs) deletion Congenital primary aphakia [RCV002008131] Chr1:47416317 [GRCh38]
Chr1:47881989 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.796C>T (p.Pro266Ser) single nucleotide variant Congenital primary aphakia [RCV002050317] Chr1:47417111 [GRCh38]
Chr1:47882783 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.756_779del (p.Cys253_Pro260del) deletion Congenital primary aphakia [RCV002027985] Chr1:47417065..47417088 [GRCh38]
Chr1:47882737..47882760 [GRCh37]
Chr1:1p33		 uncertain significance
NC_000001.11:g.47416279_47416517del deletion Congenital primary aphakia [RCV002032284] Chr1:47416266..47416504 [GRCh38]
Chr1:47881938..47882176 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter) single nucleotide variant Congenital primary aphakia [RCV001930870] Chr1:47416947 [GRCh38]
Chr1:47882619 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.604C>T (p.Pro202Ser) single nucleotide variant Cardiovascular phenotype [RCV002352621]|Congenital primary aphakia [RCV001965437] Chr1:47416919 [GRCh38]
Chr1:47882591 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.374T>C (p.Leu125Pro) single nucleotide variant Congenital primary aphakia [RCV001890397] Chr1:47416689 [GRCh38]
Chr1:47882361 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.854C>A (p.Pro285His) single nucleotide variant Cardiovascular phenotype [RCV002406998]|Congenital primary aphakia [RCV001888916]|FOXE3-related condition [RCV003395259] Chr1:47417169 [GRCh38]
Chr1:47882841 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.343_347del (p.Trp115fs) deletion Congenital primary aphakia [RCV001958937] Chr1:47416658..47416662 [GRCh38]
Chr1:47882330..47882334 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys) single nucleotide variant Cardiovascular phenotype [RCV002370503]|Congenital primary aphakia [RCV001918504]|not specified [RCV003331230] Chr1:47416442 [GRCh38]
Chr1:47882114 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.555dup (p.Phe186fs) duplication Congenital primary aphakia [RCV001948196] Chr1:47416866..47416867 [GRCh38]
Chr1:47882538..47882539 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.387C>G (p.Phe129Leu) single nucleotide variant Congenital primary aphakia [RCV001921609] Chr1:47416702 [GRCh38]
Chr1:47882374 [GRCh37]
Chr1:1p33		 likely pathogenic|uncertain significance
NM_012186.3(FOXE3):c.763G>A (p.Ala255Thr) single nucleotide variant Cardiovascular phenotype [RCV003166996]|Congenital primary aphakia [RCV001884602] Chr1:47417078 [GRCh38]
Chr1:47882750 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.411C>A (p.Gly137=) single nucleotide variant Congenital primary aphakia [RCV002112350] Chr1:47416726 [GRCh38]
Chr1:47882398 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.114G>A (p.Gly38=) single nucleotide variant Cardiovascular phenotype [RCV002454452]|Congenital primary aphakia [RCV002105594] Chr1:47416429 [GRCh38]
Chr1:47882101 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.576G>A (p.Ala192=) single nucleotide variant Congenital primary aphakia [RCV002087909] Chr1:47416891 [GRCh38]
Chr1:47882563 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.192G>A (p.Arg64=) single nucleotide variant Cardiovascular phenotype [RCV003308027]|Congenital primary aphakia [RCV002166475] Chr1:47416507 [GRCh38]
Chr1:47882179 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.537G>C (p.Ala179=) single nucleotide variant Congenital primary aphakia [RCV002085582] Chr1:47416852 [GRCh38]
Chr1:47882524 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.741C>T (p.Ala247=) single nucleotide variant Congenital primary aphakia [RCV002145780] Chr1:47417056 [GRCh38]
Chr1:47882728 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.309A>G (p.Glu103=) single nucleotide variant Cardiovascular phenotype [RCV003161560]|Congenital primary aphakia [RCV002091544] Chr1:47416624 [GRCh38]
Chr1:47882296 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.183G>C (p.Arg61=) single nucleotide variant Congenital primary aphakia [RCV002191882] Chr1:47416498 [GRCh38]
Chr1:47882170 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.636G>T (p.Pro212=) single nucleotide variant Congenital primary aphakia [RCV002170363] Chr1:47416951 [GRCh38]
Chr1:47882623 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.348G>A (p.Gln116=) single nucleotide variant Congenital primary aphakia [RCV002212410] Chr1:47416663 [GRCh38]
Chr1:47882335 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.927G>A (p.Pro309=) single nucleotide variant Congenital primary aphakia [RCV002206914] Chr1:47417242 [GRCh38]
Chr1:47882914 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.408G>C (p.Pro136=) single nucleotide variant Congenital primary aphakia [RCV002214602] Chr1:47416723 [GRCh38]
Chr1:47882395 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.685C>A (p.Leu229Ile) single nucleotide variant Congenital primary aphakia [RCV003101226]|not provided [RCV002211094] Chr1:47417000 [GRCh38]
Chr1:47882672 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.420C>T (p.Gly140=) single nucleotide variant Congenital primary aphakia [RCV002079972] Chr1:47416735 [GRCh38]
Chr1:47882407 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.135G>A (p.Ala45=) single nucleotide variant Congenital primary aphakia [RCV002173132] Chr1:47416450 [GRCh38]
Chr1:47882122 [GRCh37]
Chr1:1p33		 benign
NM_012186.3(FOXE3):c.943C>T (p.Leu315=) single nucleotide variant Congenital primary aphakia [RCV002137496] Chr1:47417258 [GRCh38]
Chr1:47882930 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.519C>A (p.Pro173=) single nucleotide variant Congenital primary aphakia [RCV002217357] Chr1:47416834 [GRCh38]
Chr1:47882506 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.426C>T (p.Gly142=) single nucleotide variant Congenital primary aphakia [RCV002217463] Chr1:47416741 [GRCh38]
Chr1:47882413 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.315T>C (p.Phe105=) single nucleotide variant Cardiovascular phenotype [RCV003161561]|Congenital primary aphakia [RCV002099107] Chr1:47416630 [GRCh38]
Chr1:47882302 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.579C>G (p.Pro193=) single nucleotide variant Cardiovascular phenotype [RCV003161374]|Congenital primary aphakia [RCV002182918]|FOXE3-related condition [RCV003923489] Chr1:47416894 [GRCh38]
Chr1:47882566 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.930C>T (p.Gly310=) single nucleotide variant Congenital primary aphakia [RCV002198022] Chr1:47417245 [GRCh38]
Chr1:47882917 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.666G>A (p.Leu222=) single nucleotide variant Congenital primary aphakia [RCV002141039] Chr1:47416981 [GRCh38]
Chr1:47882653 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.327C>A (p.Arg109=) single nucleotide variant Congenital primary aphakia [RCV002159919] Chr1:47416642 [GRCh38]
Chr1:47882314 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.258C>T (p.His86=) single nucleotide variant Congenital primary aphakia [RCV002099613] Chr1:47416573 [GRCh38]
Chr1:47882245 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.84G>A (p.Pro28=) single nucleotide variant Congenital primary aphakia [RCV002123096] Chr1:47416399 [GRCh38]
Chr1:47882071 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.756C>G (p.Pro252=) single nucleotide variant Congenital primary aphakia [RCV003115210] Chr1:47417071 [GRCh38]
Chr1:47882743 [GRCh37]
Chr1:1p33		 likely benign
NC_000001.10:g.(?_47716808)_(47882947_?)dup duplication Congenital primary aphakia [RCV003116564] Chr1:47716808..47882947 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.388G>T (p.Val130Phe) single nucleotide variant Congenital primary aphakia [RCV002291177] Chr1:47416703 [GRCh38]
Chr1:47882375 [GRCh37]
Chr1:1p33		 likely pathogenic
NM_012186.3(FOXE3):c.61G>T (p.Ala21Ser) single nucleotide variant not provided [RCV002262231] Chr1:47416376 [GRCh38]
Chr1:47882048 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.73T>G (p.Ser25Ala) single nucleotide variant Cardiovascular phenotype [RCV002384883] Chr1:47416388 [GRCh38]
Chr1:47882060 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.740C>T (p.Ala247Val) single nucleotide variant Cardiovascular phenotype [RCV002384917] Chr1:47417055 [GRCh38]
Chr1:47882727 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.540A>C (p.Pro180=) single nucleotide variant Cardiovascular phenotype [RCV002349390] Chr1:47416855 [GRCh38]
Chr1:47882527 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.366T>C (p.Asn122=) single nucleotide variant Cardiovascular phenotype [RCV002452644] Chr1:47416681 [GRCh38]
Chr1:47882353 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.555C>T (p.Pro185=) single nucleotide variant Cardiovascular phenotype [RCV002351974] Chr1:47416870 [GRCh38]
Chr1:47882542 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.260C>A (p.Ala87Asp) single nucleotide variant Cardiovascular phenotype [RCV002437161] Chr1:47416575 [GRCh38]
Chr1:47882247 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.635C>T (p.Pro212Leu) single nucleotide variant Cardiovascular phenotype [RCV002369016] Chr1:47416950 [GRCh38]
Chr1:47882622 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.70C>A (p.Pro24Thr) single nucleotide variant Cardiovascular phenotype [RCV002367341] Chr1:47416385 [GRCh38]
Chr1:47882057 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.630C>T (p.Pro210=) single nucleotide variant Cardiovascular phenotype [RCV002368830] Chr1:47416945 [GRCh38]
Chr1:47882617 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.659A>G (p.Asp220Gly) single nucleotide variant Inborn genetic diseases [RCV003282966] Chr1:47416974 [GRCh38]
Chr1:47882646 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.537G>T (p.Ala179=) single nucleotide variant Cardiovascular phenotype [RCV002347121] Chr1:47416852 [GRCh38]
Chr1:47882524 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.42T>C (p.Ser14=) single nucleotide variant Cardiovascular phenotype [RCV002331885] Chr1:47416357 [GRCh38]
Chr1:47882029 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.498C>A (p.Arg166=) single nucleotide variant Cardiovascular phenotype [RCV002342925]|Congenital primary aphakia [RCV003776008] Chr1:47416813 [GRCh38]
Chr1:47882485 [GRCh37]
Chr1:1p33		 likely benign|uncertain significance
NM_012186.3(FOXE3):c.882C>A (p.Ala294=) single nucleotide variant Cardiovascular phenotype [RCV002449807] Chr1:47417197 [GRCh38]
Chr1:47882869 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu) single nucleotide variant Congenital primary aphakia [RCV002304118] Chr1:47416354 [GRCh38]
Chr1:47882026 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.140G>T (p.Gly47Val) single nucleotide variant Cardiovascular phenotype [RCV002389473] Chr1:47416455 [GRCh38]
Chr1:47882127 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.758G>A (p.Cys253Tyr) single nucleotide variant Cardiovascular phenotype [RCV002394153] Chr1:47417073 [GRCh38]
Chr1:47882745 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.408G>A (p.Pro136=) single nucleotide variant Cardiovascular phenotype [RCV002323207]|Congenital primary aphakia [RCV003094520] Chr1:47416723 [GRCh38]
Chr1:47882395 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.725C>T (p.Ala242Val) single nucleotide variant Cardiovascular phenotype [RCV002382532] Chr1:47417040 [GRCh38]
Chr1:47882712 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.171C>T (p.Pro57=) single nucleotide variant Cardiovascular phenotype [RCV002399025] Chr1:47416486 [GRCh38]
Chr1:47882158 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.509C>T (p.Ala170Val) single nucleotide variant Cardiovascular phenotype [RCV002335973] Chr1:47416824 [GRCh38]
Chr1:47882496 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser) single nucleotide variant Cardiovascular phenotype [RCV002434741]|Congenital primary aphakia [RCV003776495] Chr1:47417150 [GRCh38]
Chr1:47882822 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.157C>G (p.Pro53Ala) single nucleotide variant Cardiovascular phenotype [RCV002405762] Chr1:47416472 [GRCh38]
Chr1:47882144 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.769G>T (p.Ala257Ser) single nucleotide variant Cardiovascular phenotype [RCV002400564] Chr1:47417084 [GRCh38]
Chr1:47882756 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.245T>G (p.Met82Arg) single nucleotide variant Cardiovascular phenotype [RCV002455477] Chr1:47416560 [GRCh38]
Chr1:47882232 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.471C>T (p.Asn157=) single nucleotide variant Cardiovascular phenotype [RCV002335392] Chr1:47416786 [GRCh38]
Chr1:47882458 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.828CGGCCC[3] (p.Pro280_Leu281insGlyPro) microsatellite Cardiovascular phenotype [RCV002434672] Chr1:47417138..47417139 [GRCh38]
Chr1:47882810..47882811 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr) single nucleotide variant Cardiovascular phenotype [RCV002380197]|Congenital primary aphakia [RCV003776377] Chr1:47417048 [GRCh38]
Chr1:47882720 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.774C>G (p.Ser258=) single nucleotide variant Cardiovascular phenotype [RCV002409660] Chr1:47417089 [GRCh38]
Chr1:47882761 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.101G>T (p.Gly34Val) single nucleotide variant Cardiovascular phenotype [RCV002378172]|Congenital primary aphakia [RCV003776328] Chr1:47416416 [GRCh38]
Chr1:47882088 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.196C>G (p.Pro66Ala) single nucleotide variant Cardiovascular phenotype [RCV002423455] Chr1:47416511 [GRCh38]
Chr1:47882183 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.174C>G (p.Gly58=) single nucleotide variant Cardiovascular phenotype [RCV002401550]|FOXE3-related condition [RCV003973397] Chr1:47416489 [GRCh38]
Chr1:47882161 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.395T>G (p.Val132Gly) single nucleotide variant Cardiovascular phenotype [RCV002375447] Chr1:47416710 [GRCh38]
Chr1:47882382 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.115C>A (p.Arg39=) single nucleotide variant Cardiovascular phenotype [RCV002357548]|Congenital primary aphakia [RCV003775764] Chr1:47416430 [GRCh38]
Chr1:47882102 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.129G>C (p.Glu43Asp) single nucleotide variant Cardiovascular phenotype [RCV002380763] Chr1:47416444 [GRCh38]
Chr1:47882116 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.661A>T (p.Ser221Cys) single nucleotide variant Cardiovascular phenotype [RCV002364608] Chr1:47416976 [GRCh38]
Chr1:47882648 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.190C>G (p.Arg64Gly) single nucleotide variant Cardiovascular phenotype [RCV002408428] Chr1:47416505 [GRCh38]
Chr1:47882177 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.534G>A (p.Ala178=) single nucleotide variant Cardiovascular phenotype [RCV002346951]|Congenital primary aphakia [RCV003096704] Chr1:47416849 [GRCh38]
Chr1:47882521 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.173G>A (p.Gly58Asp) single nucleotide variant Cardiovascular phenotype [RCV002401380] Chr1:47416488 [GRCh38]
Chr1:47882160 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.567_568delinsTT (p.Pro190Ser) indel Congenital primary aphakia [RCV002299934] Chr1:47416882..47416883 [GRCh38]
Chr1:47882554..47882555 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.454G>A (p.Ala152Thr) single nucleotide variant Cardiovascular phenotype [RCV002340159] Chr1:47416769 [GRCh38]
Chr1:47882441 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.696G>C (p.Leu232=) single nucleotide variant Cardiovascular phenotype [RCV002362524]|Congenital primary aphakia [RCV003098431]|not provided [RCV003408250] Chr1:47417011 [GRCh38]
Chr1:47882683 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.176C>T (p.Pro59Leu) single nucleotide variant Cardiovascular phenotype [RCV002401798] Chr1:47416491 [GRCh38]
Chr1:47882163 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.218C>T (p.Pro73Leu) single nucleotide variant Cardiovascular phenotype [RCV002425544] Chr1:47416533 [GRCh38]
Chr1:47882205 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg) single nucleotide variant Cardiovascular phenotype [RCV002394779]|Congenital primary aphakia [RCV003774340] Chr1:47416460 [GRCh38]
Chr1:47882132 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.560C>T (p.Pro187Leu) single nucleotide variant Cardiovascular phenotype [RCV002344945] Chr1:47416875 [GRCh38]
Chr1:47882547 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.311G>A (p.Arg104His) single nucleotide variant Cardiovascular phenotype [RCV002320476] Chr1:47416626 [GRCh38]
Chr1:47882298 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.681G>A (p.Pro227=) single nucleotide variant Cardiovascular phenotype [RCV002369589]|Congenital primary aphakia [RCV003103335] Chr1:47416996 [GRCh38]
Chr1:47882668 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro) microsatellite Cardiovascular phenotype [RCV002353114]|Congenital primary aphakia [RCV003776162] Chr1:47416887..47416888 [GRCh38]
Chr1:47882559..47882560 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.870C>T (p.Ala290=) single nucleotide variant Cardiovascular phenotype [RCV002449729] Chr1:47417185 [GRCh38]
Chr1:47882857 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.938C>G (p.Ser313Trp) single nucleotide variant Cardiovascular phenotype [RCV002443386] Chr1:47417253 [GRCh38]
Chr1:47882925 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.765C>T (p.Ala255=) single nucleotide variant Cardiovascular phenotype [RCV002396429] Chr1:47417080 [GRCh38]
Chr1:47882752 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.139G>C (p.Gly47Arg) single nucleotide variant Cardiovascular phenotype [RCV002389215] Chr1:47416454 [GRCh38]
Chr1:47882126 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.902C>T (p.Pro301Leu) single nucleotide variant Inborn genetic diseases [RCV002860818] Chr1:47417217 [GRCh38]
Chr1:47882889 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg) single nucleotide variant Cardiovascular phenotype [RCV003294531]|Congenital primary aphakia [RCV002615125] Chr1:47417154 [GRCh38]
Chr1:47882826 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.926C>G (p.Pro309Arg) single nucleotide variant Congenital primary aphakia [RCV003073797] Chr1:47417241 [GRCh38]
Chr1:47882913 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.59C>G (p.Pro20Arg) single nucleotide variant Inborn genetic diseases [RCV002776877] Chr1:47416374 [GRCh38]
Chr1:47882046 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.824G>T (p.Arg275Leu) single nucleotide variant Congenital primary aphakia [RCV002755841] Chr1:47417139 [GRCh38]
Chr1:47882811 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.646C>A (p.Leu216Met) single nucleotide variant Inborn genetic diseases [RCV002761837] Chr1:47416961 [GRCh38]
Chr1:47882633 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.752C>A (p.Pro251Gln) single nucleotide variant Inborn genetic diseases [RCV002884211] Chr1:47417067 [GRCh38]
Chr1:47882739 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.713C>T (p.Pro238Leu) single nucleotide variant Inborn genetic diseases [RCV002821586] Chr1:47417028 [GRCh38]
Chr1:47882700 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.272G>A (p.Arg91His) single nucleotide variant Congenital primary aphakia [RCV002736665] Chr1:47416587 [GRCh38]
Chr1:47882259 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.754C>A (p.Pro252Thr) single nucleotide variant Congenital primary aphakia [RCV003036777] Chr1:47417069 [GRCh38]
Chr1:47882741 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.85C>A (p.Pro29Thr) single nucleotide variant Inborn genetic diseases [RCV002738832] Chr1:47416400 [GRCh38]
Chr1:47882072 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.343T>C (p.Trp115Arg) single nucleotide variant Inborn genetic diseases [RCV002692297] Chr1:47416658 [GRCh38]
Chr1:47882330 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.393_419delinsCGGCCAGTGCTCCTTTATCCATGGGAGCTGGGAATAATCCCAGAGAGCAGACAACCTGCTGCTCAGATACATTCACACAAGTGTGTACACACACATGCCCAGCCCATCTCGTCTCTACCAGGCTGAGATGCAGGAGATGGCATTTGACTAGGCCTACTATGTGCACAGCTATGGCTGAATCACTTCCTTTTTAAAACAAAATTGTGTTAGCCACTAATCCTGCTGGAGAATCACTTCCTAATCCCATTTCATGAACTTCTGATTGATGTCTCACAAGGAGGTTCACCC (p.Lys131_Gly140delinsAsnGlyGlnCysSerPheIleHisGlySerTrpGluTer) indel Congenital primary aphakia [RCV003054429] Chr1:47416708..47416734 [GRCh38]
Chr1:47882380..47882406 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.774C>T (p.Ser258=) single nucleotide variant Congenital primary aphakia [RCV002705581] Chr1:47417089 [GRCh38]
Chr1:47882761 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.883G>A (p.Ala295Thr) single nucleotide variant Congenital primary aphakia [RCV002706331] Chr1:47417198 [GRCh38]
Chr1:47882870 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.809T>A (p.Val270Glu) single nucleotide variant Congenital primary aphakia [RCV003008164] Chr1:47417124 [GRCh38]
Chr1:47882796 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.611C>T (p.Pro204Leu) single nucleotide variant Inborn genetic diseases [RCV002768107] Chr1:47416926 [GRCh38]
Chr1:47882598 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.194G>T (p.Arg65Leu) single nucleotide variant Congenital primary aphakia [RCV002700590] Chr1:47416509 [GRCh38]
Chr1:47882181 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter) single nucleotide variant Congenital primary aphakia [RCV003005444] Chr1:47416460 [GRCh38]
Chr1:47882132 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.188G>C (p.Arg63Pro) single nucleotide variant Congenital primary aphakia [RCV002625157] Chr1:47416503 [GRCh38]
Chr1:47882175 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.707A>C (p.Glu236Ala) single nucleotide variant Inborn genetic diseases [RCV002767166] Chr1:47417022 [GRCh38]
Chr1:47882694 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.650T>C (p.Phe217Ser) single nucleotide variant Congenital primary aphakia [RCV003024831] Chr1:47416965 [GRCh38]
Chr1:47882637 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.705C>G (p.Pro235=) single nucleotide variant Congenital primary aphakia [RCV002957794] Chr1:47417020 [GRCh38]
Chr1:47882692 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.916C>G (p.Leu306Val) single nucleotide variant Inborn genetic diseases [RCV002930075] Chr1:47417231 [GRCh38]
Chr1:47882903 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.946G>A (p.Glu316Lys) single nucleotide variant Congenital primary aphakia [RCV003056485] Chr1:47417261 [GRCh38]
Chr1:47882933 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.430T>C (p.Tyr144His) single nucleotide variant Congenital primary aphakia [RCV002833890] Chr1:47416745 [GRCh38]
Chr1:47882417 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.502A>C (p.Lys168Gln) single nucleotide variant Congenital primary aphakia [RCV003092141] Chr1:47416817 [GRCh38]
Chr1:47882489 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.6G>T (p.Ala2=) single nucleotide variant Congenital primary aphakia [RCV002651479] Chr1:47416321 [GRCh38]
Chr1:47881993 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.180G>A (p.Gly60=) single nucleotide variant Congenital primary aphakia [RCV002922694] Chr1:47416495 [GRCh38]
Chr1:47882167 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.92C>A (p.Pro31Gln) single nucleotide variant Congenital primary aphakia [RCV002933513] Chr1:47416407 [GRCh38]
Chr1:47882079 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser) single nucleotide variant Cardiovascular phenotype [RCV003161730]|Congenital primary aphakia [RCV003090983] Chr1:47417138 [GRCh38]
Chr1:47882810 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.86C>T (p.Pro29Leu) single nucleotide variant Inborn genetic diseases [RCV002963602] Chr1:47416401 [GRCh38]
Chr1:47882073 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser) single nucleotide variant Congenital primary aphakia [RCV002922672] Chr1:47416394 [GRCh38]
Chr1:47882066 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.586G>A (p.Gly196Ser) single nucleotide variant Congenital primary aphakia [RCV002717222] Chr1:47416901 [GRCh38]
Chr1:47882573 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile) single nucleotide variant Congenital primary aphakia [RCV003062738]|not specified [RCV003155508] Chr1:47416318 [GRCh38]
Chr1:47881990 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.1A>T (p.Met1Leu) single nucleotide variant Congenital primary aphakia [RCV003029348] Chr1:47416316 [GRCh38]
Chr1:47881988 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.88T>G (p.Ser30Ala) single nucleotide variant Inborn genetic diseases [RCV002719870] Chr1:47416403 [GRCh38]
Chr1:47882075 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.258C>G (p.His86Gln) single nucleotide variant Congenital primary aphakia [RCV002676891] Chr1:47416573 [GRCh38]
Chr1:47882245 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.562T>C (p.Tyr188His) single nucleotide variant Congenital primary aphakia [RCV003067581] Chr1:47416877 [GRCh38]
Chr1:47882549 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.491G>C (p.Arg164Pro) single nucleotide variant Congenital primary aphakia [RCV002605015] Chr1:47416806 [GRCh38]
Chr1:47882478 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.689C>G (p.Ala230Gly) single nucleotide variant Congenital primary aphakia [RCV002814943] Chr1:47417004 [GRCh38]
Chr1:47882676 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.488G>A (p.Arg163His) single nucleotide variant Congenital primary aphakia [RCV003067616] Chr1:47416803 [GRCh38]
Chr1:47882475 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.134C>T (p.Ala45Val) single nucleotide variant Congenital primary aphakia [RCV003067580] Chr1:47416449 [GRCh38]
Chr1:47882121 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.177G>C (p.Pro59=) single nucleotide variant Congenital primary aphakia [RCV003067469] Chr1:47416492 [GRCh38]
Chr1:47882164 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.325C>T (p.Arg109Cys) single nucleotide variant Congenital primary aphakia [RCV003069988] Chr1:47416640 [GRCh38]
Chr1:47882312 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.729C>T (p.Pro243=) single nucleotide variant Congenital primary aphakia [RCV003067817] Chr1:47417044 [GRCh38]
Chr1:47882716 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.694C>G (p.Leu232Val) single nucleotide variant Congenital primary aphakia [RCV002654657] Chr1:47417009 [GRCh38]
Chr1:47882681 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.131C>A (p.Ala44Glu) single nucleotide variant Congenital primary aphakia [RCV003068641]|FOXE3-related condition [RCV003404047] Chr1:47416446 [GRCh38]
Chr1:47882118 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser) single nucleotide variant Congenital primary aphakia [RCV002676892] Chr1:47416580 [GRCh38]
Chr1:47882252 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.363C>T (p.His121=) single nucleotide variant Cardiovascular phenotype [RCV003181646] Chr1:47416678 [GRCh38]
Chr1:47882350 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.249T>G (p.Ala83=) single nucleotide variant Cardiovascular phenotype [RCV003216530] Chr1:47416564 [GRCh38]
Chr1:47882236 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.3G>T (p.Met1Ile) single nucleotide variant Cardiovascular phenotype [RCV003181644] Chr1:47416318 [GRCh38]
Chr1:47881990 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.704C>T (p.Pro235Leu) single nucleotide variant Cardiovascular phenotype [RCV003181645] Chr1:47417019 [GRCh38]
Chr1:47882691 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.103G>A (p.Ala35Thr) single nucleotide variant Cardiovascular phenotype [RCV003181647] Chr1:47416418 [GRCh38]
Chr1:47882090 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.86C>G (p.Pro29Arg) single nucleotide variant Cardiovascular phenotype [RCV003181648] Chr1:47416401 [GRCh38]
Chr1:47882073 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.143G>C (p.Arg48Pro) single nucleotide variant Cardiovascular phenotype [RCV003181649] Chr1:47416458 [GRCh38]
Chr1:47882130 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.6G>A (p.Ala2=) single nucleotide variant Cardiovascular phenotype [RCV003181650] Chr1:47416321 [GRCh38]
Chr1:47881993 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr) single nucleotide variant Cardiovascular phenotype [RCV003181651]|Congenital primary aphakia [RCV003778968] Chr1:47416397 [GRCh38]
Chr1:47882069 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.908A>C (p.Glu303Ala) single nucleotide variant Cardiovascular phenotype [RCV003181652] Chr1:47417223 [GRCh38]
Chr1:47882895 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr) single nucleotide variant Cardiovascular phenotype [RCV003181653]|Congenital primary aphakia [RCV003778969] Chr1:47416823 [GRCh38]
Chr1:47882495 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.167C>A (p.Ala56Glu) single nucleotide variant Cardiovascular phenotype [RCV003168259] Chr1:47416482 [GRCh38]
Chr1:47882154 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.152C>A (p.Ala51Glu) single nucleotide variant Cardiovascular phenotype [RCV003168260] Chr1:47416467 [GRCh38]
Chr1:47882139 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.80C>T (p.Pro27Leu) single nucleotide variant Cardiovascular phenotype [RCV003168261] Chr1:47416395 [GRCh38]
Chr1:47882067 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.724del (p.Ala242fs) deletion not provided [RCV003141700] Chr1:47417039 [GRCh38]
Chr1:47882711 [GRCh37]
Chr1:1p33		 likely pathogenic
NM_012186.3(FOXE3):c.809T>C (p.Val270Ala) single nucleotide variant Cardiovascular phenotype [RCV003301457] Chr1:47417124 [GRCh38]
Chr1:47882796 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.331A>T (p.Ser111Cys) single nucleotide variant Cardiovascular phenotype [RCV003301461] Chr1:47416646 [GRCh38]
Chr1:47882318 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.154G>C (p.Ala52Pro) single nucleotide variant Cardiovascular phenotype [RCV003301462] Chr1:47416469 [GRCh38]
Chr1:47882141 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.398C>T (p.Pro133Leu) single nucleotide variant Cardiovascular phenotype [RCV003301464] Chr1:47416713 [GRCh38]
Chr1:47882385 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.225G>A (p.Ser75=) single nucleotide variant Cardiovascular phenotype [RCV003216532] Chr1:47416540 [GRCh38]
Chr1:47882212 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.180G>C (p.Gly60=) single nucleotide variant Cardiovascular phenotype [RCV003216533] Chr1:47416495 [GRCh38]
Chr1:47882167 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.456A>C (p.Ala152=) single nucleotide variant Cardiovascular phenotype [RCV003216534] Chr1:47416771 [GRCh38]
Chr1:47882443 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.504G>A (p.Lys168=) single nucleotide variant Cardiovascular phenotype [RCV003216535] Chr1:47416819 [GRCh38]
Chr1:47882491 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.441G>C (p.Leu147=) single nucleotide variant Cardiovascular phenotype [RCV003216536] Chr1:47416756 [GRCh38]
Chr1:47882428 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.798C>G (p.Pro266=) single nucleotide variant Cardiovascular phenotype [RCV003216537]|Congenital primary aphakia [RCV003779761] Chr1:47417113 [GRCh38]
Chr1:47882785 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.380A>G (p.Asp127Gly) single nucleotide variant not specified [RCV003324161] Chr1:47416695 [GRCh38]
Chr1:47882367 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.752C>T (p.Pro251Leu) single nucleotide variant Inborn genetic diseases [RCV003379271] Chr1:47417067 [GRCh38]
Chr1:47882739 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.496C>A (p.Arg166Ser) single nucleotide variant Cardiovascular phenotype [RCV003380252] Chr1:47416811 [GRCh38]
Chr1:47882483 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.-2C>G single nucleotide variant not specified [RCV003332048] Chr1:47416314 [GRCh38]
Chr1:47881986 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.582G>A (p.Ala194=) single nucleotide variant not specified [RCV003332049] Chr1:47416897 [GRCh38]
Chr1:47882569 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu) single nucleotide variant Cardiovascular phenotype [RCV003380251]|Congenital primary aphakia [RCV003778135] Chr1:47416449 [GRCh38]
Chr1:47882121 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser) single nucleotide variant Congenital primary aphakia [RCV003778043]|Inborn genetic diseases [RCV003367298] Chr1:47416529 [GRCh38]
Chr1:47882201 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV003406483] Chr1:47416318 [GRCh38]
Chr1:47881990 [GRCh37]
Chr1:1p33		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_012186.3(FOXE3):c.456dup (p.Asp153fs) duplication FOXE3-related condition [RCV003408347] Chr1:47416770..47416771 [GRCh38]
Chr1:47882442..47882443 [GRCh37]
Chr1:1p33		 likely pathogenic
NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro) single nucleotide variant Congenital primary aphakia [RCV003793549] Chr1:47416626 [GRCh38]
Chr1:47882298 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.64G>A (p.Val22Ile) single nucleotide variant Congenital primary aphakia [RCV003804986] Chr1:47416379 [GRCh38]
Chr1:47882051 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro) single nucleotide variant Congenital primary aphakia [RCV003795947] Chr1:47417118 [GRCh38]
Chr1:47882790 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro) single nucleotide variant Congenital primary aphakia [RCV003806305] Chr1:47416500 [GRCh38]
Chr1:47882172 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.296G>A (p.Arg99His) single nucleotide variant Congenital primary aphakia [RCV003790159] Chr1:47416611 [GRCh38]
Chr1:47882283 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg) microsatellite Congenital primary aphakia [RCV003783884] Chr1:47416493..47416494 [GRCh38]
Chr1:47882165..47882166 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.75G>T (p.Ser25=) single nucleotide variant Congenital primary aphakia [RCV003780860] Chr1:47416390 [GRCh38]
Chr1:47882062 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu) single nucleotide variant Congenital primary aphakia [RCV003797645] Chr1:47416884 [GRCh38]
Chr1:47882556 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr) single nucleotide variant Congenital primary aphakia [RCV003781501] Chr1:47417018 [GRCh38]
Chr1:47882690 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.535del (p.Ala179fs) deletion Congenital primary aphakia [RCV003785664] Chr1:47416849 [GRCh38]
Chr1:47882521 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.922C>A (p.Gln308Lys) single nucleotide variant Congenital primary aphakia [RCV003789440] Chr1:47417237 [GRCh38]
Chr1:47882909 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.273C>T (p.Arg91=) single nucleotide variant Congenital primary aphakia [RCV003789447] Chr1:47416588 [GRCh38]
Chr1:47882260 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg) single nucleotide variant Congenital primary aphakia [RCV003790699] Chr1:47417186 [GRCh38]
Chr1:47882858 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile) single nucleotide variant Congenital primary aphakia [RCV003794219] Chr1:47416968 [GRCh38]
Chr1:47882640 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg) single nucleotide variant Congenital primary aphakia [RCV003788129] Chr1:47416487 [GRCh38]
Chr1:47882159 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.552C>T (p.Leu184=) single nucleotide variant Congenital primary aphakia [RCV003780316] Chr1:47416867 [GRCh38]
Chr1:47882539 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.780A>G (p.Pro260=) single nucleotide variant Congenital primary aphakia [RCV003784676] Chr1:47417095 [GRCh38]
Chr1:47882767 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.150G>A (p.Glu50=) single nucleotide variant Congenital primary aphakia [RCV003795548] Chr1:47416465 [GRCh38]
Chr1:47882137 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg) single nucleotide variant Congenital primary aphakia [RCV003784215] Chr1:47417091 [GRCh38]
Chr1:47882763 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro) single nucleotide variant Congenital primary aphakia [RCV003794641] Chr1:47416509 [GRCh38]
Chr1:47882181 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.165C>G (p.Pro55=) single nucleotide variant Congenital primary aphakia [RCV003788616] Chr1:47416480 [GRCh38]
Chr1:47882152 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala) single nucleotide variant Congenital primary aphakia [RCV003788744] Chr1:47416532 [GRCh38]
Chr1:47882204 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.460A>G (p.Met154Val) single nucleotide variant Congenital primary aphakia [RCV003806183] Chr1:47416775 [GRCh38]
Chr1:47882447 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.717C>G (p.Cys239Trp) single nucleotide variant Congenital primary aphakia [RCV003783896] Chr1:47417032 [GRCh38]
Chr1:47882704 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys) single nucleotide variant Congenital primary aphakia [RCV003781216] Chr1:47417021 [GRCh38]
Chr1:47882693 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.438G>A (p.Thr146=) single nucleotide variant Congenital primary aphakia [RCV003806541] Chr1:47416753 [GRCh38]
Chr1:47882425 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr) single nucleotide variant Congenital primary aphakia [RCV003785693] Chr1:47416668 [GRCh38]
Chr1:47882340 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser) single nucleotide variant Congenital primary aphakia [RCV003806231] Chr1:47417057 [GRCh38]
Chr1:47882729 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.55C>T (p.Leu19=) single nucleotide variant Congenital primary aphakia [RCV003786479] Chr1:47416370 [GRCh38]
Chr1:47882042 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.880G>A (p.Ala294Thr) single nucleotide variant Congenital primary aphakia [RCV003794691] Chr1:47417195 [GRCh38]
Chr1:47882867 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.642G>T (p.Ala214=) single nucleotide variant Congenital primary aphakia [RCV003795648] Chr1:47416957 [GRCh38]
Chr1:47882629 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.326G>A (p.Arg109His) single nucleotide variant Congenital primary aphakia [RCV003796535] Chr1:47416641 [GRCh38]
Chr1:47882313 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.669G>T (p.Val223=) single nucleotide variant Congenital primary aphakia [RCV003794329] Chr1:47416984 [GRCh38]
Chr1:47882656 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser) single nucleotide variant Congenital primary aphakia [RCV003794337] Chr1:47416785 [GRCh38]
Chr1:47882457 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.453C>G (p.Ala151=) single nucleotide variant Congenital primary aphakia [RCV003784584] Chr1:47416768 [GRCh38]
Chr1:47882440 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.801C>T (p.Asp267=) single nucleotide variant Congenital primary aphakia [RCV003787028] Chr1:47417116 [GRCh38]
Chr1:47882788 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro) single nucleotide variant Congenital primary aphakia [RCV003794246] Chr1:47416403 [GRCh38]
Chr1:47882075 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.641C>T (p.Ala214Val) single nucleotide variant Congenital primary aphakia [RCV003789155] Chr1:47416956 [GRCh38]
Chr1:47882628 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.855C>T (p.Pro285=) single nucleotide variant Congenital primary aphakia [RCV003793802] Chr1:47417170 [GRCh38]
Chr1:47882842 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr) single nucleotide variant Congenital primary aphakia [RCV003787691] Chr1:47417039 [GRCh38]
Chr1:47882711 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser) single nucleotide variant Congenital primary aphakia [RCV003780216] Chr1:47416820 [GRCh38]
Chr1:47882492 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.306C>T (p.Thr102=) single nucleotide variant Congenital primary aphakia [RCV003783879] Chr1:47416621 [GRCh38]
Chr1:47882293 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.705del (p.Glu236fs) deletion Congenital primary aphakia [RCV003788152] Chr1:47417016 [GRCh38]
Chr1:47882688 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys) single nucleotide variant Congenital primary aphakia [RCV003809958] Chr1:47416811 [GRCh38]
Chr1:47882483 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser) single nucleotide variant Congenital primary aphakia [RCV003800433] Chr1:47416478 [GRCh38]
Chr1:47882150 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter) single nucleotide variant Congenital primary aphakia [RCV003812726] Chr1:47416537 [GRCh38]
Chr1:47882209 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.557T>C (p.Phe186Ser) single nucleotide variant Congenital primary aphakia [RCV003813653] Chr1:47416872 [GRCh38]
Chr1:47882544 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.706G>T (p.Glu236Ter) single nucleotide variant Congenital primary aphakia [RCV003801268] Chr1:47417021 [GRCh38]
Chr1:47882693 [GRCh37]
Chr1:1p33		 pathogenic
NM_012186.3(FOXE3):c.802C>A (p.Arg268Ser) single nucleotide variant Congenital primary aphakia [RCV003813512] Chr1:47417117 [GRCh38]
Chr1:47882789 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.519C>T (p.Pro173=) single nucleotide variant Congenital primary aphakia [RCV003799003] Chr1:47416834 [GRCh38]
Chr1:47882506 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.773C>T (p.Ser258Phe) single nucleotide variant Congenital primary aphakia [RCV003815518] Chr1:47417088 [GRCh38]
Chr1:47882760 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.285C>G (p.Ala95=) single nucleotide variant Congenital primary aphakia [RCV003798356] Chr1:47416600 [GRCh38]
Chr1:47882272 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu) single nucleotide variant Congenital primary aphakia [RCV003798411] Chr1:47416628 [GRCh38]
Chr1:47882300 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.96C>T (p.Leu32=) single nucleotide variant Congenital primary aphakia [RCV003798555] Chr1:47416411 [GRCh38]
Chr1:47882083 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.179GGC[5] (p.Arg65del) microsatellite Congenital primary aphakia [RCV003800868]|FOXE3-related condition [RCV003984428] Chr1:47416494..47416496 [GRCh38]
Chr1:47882166..47882168 [GRCh37]
Chr1:1p33		 benign|uncertain significance
NM_012186.3(FOXE3):c.822G>A (p.Thr274=) single nucleotide variant Congenital primary aphakia [RCV003802905] Chr1:47417137 [GRCh38]
Chr1:47882809 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser) single nucleotide variant Congenital primary aphakia [RCV003802431] Chr1:47416625 [GRCh38]
Chr1:47882297 [GRCh37]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3 copy number gain not specified [RCV003986484] Chr1:47493178..57042671 [GRCh37]
Chr1:1p33-32.2		 likely pathogenic
NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln) single nucleotide variant Congenital primary aphakia [RCV003802238] Chr1:47416650 [GRCh38]
Chr1:47882322 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.877dup (p.Ala293fs) duplication Congenital primary aphakia [RCV003802681] Chr1:47417190..47417191 [GRCh38]
Chr1:47882862..47882863 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.109C>G (p.Pro37Ala) single nucleotide variant FOXE3-related condition [RCV003894576] Chr1:47416424 [GRCh38]
Chr1:47882096 [GRCh37]
Chr1:1p33		 uncertain significance
NM_012186.3(FOXE3):c.177G>T (p.Pro59=) single nucleotide variant FOXE3-related condition [RCV003901389] Chr1:47416492 [GRCh38]
Chr1:47882164 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.105C>A (p.Ala35=) single nucleotide variant FOXE3-related condition [RCV003982635] Chr1:47416420 [GRCh38]
Chr1:47882092 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.216G>C (p.Pro72=) single nucleotide variant FOXE3-related condition [RCV003979474] Chr1:47416531 [GRCh38]
Chr1:47882203 [GRCh37]
Chr1:1p33		 likely benign
NM_012186.3(FOXE3):c.-10G>A single nucleotide variant FOXE3-related condition [RCV003951897] Chr1:47416306 [GRCh38]
Chr1:47881978 [GRCh37]
Chr1:1p33		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:887
Count of miRNA genes:339
Interacting mature miRNAs:357
Transcripts:ENST00000335071
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
PMC316354P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,904,191 - 47,904,460UniSTSGRCh37
GRCh37147,882,203 - 47,882,472UniSTSGRCh37
Build 36147,654,790 - 47,655,059RGDNCBI36
Celera146,190,498 - 46,190,767UniSTS
Celera146,168,517 - 46,168,786RGD
HuRef146,020,509 - 46,020,778UniSTS
UniSTS:482658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,881,778 - 47,883,141UniSTSGRCh37
Celera146,168,043 - 46,169,455UniSTS
HuRef145,998,210 - 45,999,489UniSTS
UniSTS:494838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,881,827 - 47,883,452UniSTSGRCh37
Celera146,168,092 - 46,169,766UniSTS
HuRef145,998,259 - 45,999,800UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 3
Low 62 15 20 6 11 6 650 23 1077 27 456 61 2 1 16 580
Below cutoff 1712 1678 895 312 742 206 2943 1472 2364 200 600 855 111 909 1736 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF275722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL607122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM433708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM885282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335071   ⟹   ENSP00000334472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl147,416,285 - 47,418,052 (+)Ensembl
RefSeq Acc Id: NM_012186   ⟹   NP_036318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38147,416,285 - 47,418,052 (+)NCBI
GRCh37147,881,744 - 47,883,724 (+)ENTREZGENE
Build 36147,654,331 - 47,656,311 (+)NCBI Archive
HuRef145,998,176 - 46,000,072 (+)ENTREZGENE
CHM1_1147,998,586 - 48,000,566 (+)NCBI
T2T-CHM13v2.0147,294,744 - 47,296,511 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_036318 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB48856 (Get FASTA)   NCBI Sequence Viewer  
  AAF82793 (Get FASTA)   NCBI Sequence Viewer  
  AIY30327 (Get FASTA)   NCBI Sequence Viewer  
  AJF94344 (Get FASTA)   NCBI Sequence Viewer  
  AJF94345 (Get FASTA)   NCBI Sequence Viewer  
  AJF94346 (Get FASTA)   NCBI Sequence Viewer  
  AJF94347 (Get FASTA)   NCBI Sequence Viewer  
  AJF94348 (Get FASTA)   NCBI Sequence Viewer  
  AJF94349 (Get FASTA)   NCBI Sequence Viewer  
  AJF94350 (Get FASTA)   NCBI Sequence Viewer  
  AJF94351 (Get FASTA)   NCBI Sequence Viewer  
  AJF94352 (Get FASTA)   NCBI Sequence Viewer  
  AJF94353 (Get FASTA)   NCBI Sequence Viewer  
  AJF94354 (Get FASTA)   NCBI Sequence Viewer  
  AJF94355 (Get FASTA)   NCBI Sequence Viewer  
  AJF94356 (Get FASTA)   NCBI Sequence Viewer  
  AJF94358 (Get FASTA)   NCBI Sequence Viewer  
  AJF94359 (Get FASTA)   NCBI Sequence Viewer  
  AJF94360 (Get FASTA)   NCBI Sequence Viewer  
  AJF94361 (Get FASTA)   NCBI Sequence Viewer  
  AJF94362 (Get FASTA)   NCBI Sequence Viewer  
  AJF94363 (Get FASTA)   NCBI Sequence Viewer  
  AJF94364 (Get FASTA)   NCBI Sequence Viewer  
  AJF94365 (Get FASTA)   NCBI Sequence Viewer  
  AJF94366 (Get FASTA)   NCBI Sequence Viewer  
  AJF94367 (Get FASTA)   NCBI Sequence Viewer  
  AJF94368 (Get FASTA)   NCBI Sequence Viewer  
  AJF94369 (Get FASTA)   NCBI Sequence Viewer  
  AJF94370 (Get FASTA)   NCBI Sequence Viewer  
  AJF94371 (Get FASTA)   NCBI Sequence Viewer  
  AJF94372 (Get FASTA)   NCBI Sequence Viewer  
  AJF94373 (Get FASTA)   NCBI Sequence Viewer  
  AJF94374 (Get FASTA)   NCBI Sequence Viewer  
  AJF94375 (Get FASTA)   NCBI Sequence Viewer  
  AML61037 (Get FASTA)   NCBI Sequence Viewer  
  AML61038 (Get FASTA)   NCBI Sequence Viewer  
  AML61039 (Get FASTA)   NCBI Sequence Viewer  
  AML61040 (Get FASTA)   NCBI Sequence Viewer  
  AML61041 (Get FASTA)   NCBI Sequence Viewer  
  AMM45327 (Get FASTA)   NCBI Sequence Viewer  
  AMM45328 (Get FASTA)   NCBI Sequence Viewer  
  AMM45329 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334472
  ENSP00000334472.2
GenBank Protein Q13461 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_036318   ⟸   NM_012186
- UniProtKB: Q5SVY9 (UniProtKB/Swiss-Prot),   Q9NQV9 (UniProtKB/Swiss-Prot),   Q13461 (UniProtKB/Swiss-Prot),   A0A0A1EII5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000334472   ⟸   ENST00000335071
Protein Domains
Fork-head

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13461-F1-model_v2 AlphaFold Q13461 1-319 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3808 AgrOrtholog
COSMIC FOXE3 COSMIC
Ensembl Genes ENSG00000186790 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335071 ENTREZGENE
  ENST00000335071.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186790 GTEx
HGNC ID HGNC:3808 ENTREZGENE
Human Proteome Map FOXE3 Human Proteome Map
InterPro Fork_head_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_fork_head_CS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2301 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2301 ENTREZGENE
OMIM 601094 OMIM
PANTHER FORKHEAD BOX PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORKHEAD BOX PROTEIN E3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Forkhead UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28225 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FORK_HEAD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A1EII5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0B5INR0_HUMAN UniProtKB/TrEMBL
  A0A0B5INR4_HUMAN UniProtKB/TrEMBL
  A0A0B5INR8_HUMAN UniProtKB/TrEMBL
  A0A0B5INS9_HUMAN UniProtKB/TrEMBL
  A0A0B5INT4_HUMAN UniProtKB/TrEMBL
  A0A0B5INU1_HUMAN UniProtKB/TrEMBL
  A0A0B5ISY2_HUMAN UniProtKB/TrEMBL
  A0A0B5ISY9_HUMAN UniProtKB/TrEMBL
  A0A0B5ISZ2_HUMAN UniProtKB/TrEMBL
  A0A0B5ISZ8_HUMAN UniProtKB/TrEMBL
  A0A0B5IYA5_HUMAN UniProtKB/TrEMBL
  A0A0B5IYB0_HUMAN UniProtKB/TrEMBL
  A0A0B5IYB7_HUMAN UniProtKB/TrEMBL
  A0A0B5IYC4_HUMAN UniProtKB/TrEMBL
  A0A0B5IYD1_HUMAN UniProtKB/TrEMBL
  A0A0B5J124_HUMAN UniProtKB/TrEMBL
  A0A0B5J129_HUMAN UniProtKB/TrEMBL
  A0A0B5J135_HUMAN UniProtKB/TrEMBL
  A0A0B5J139_HUMAN UniProtKB/TrEMBL
  A0A0B5J145_HUMAN UniProtKB/TrEMBL
  A0A0B5J149_HUMAN UniProtKB/TrEMBL
  A0A0B5J4A8_HUMAN UniProtKB/TrEMBL
  A0A0B5J4B6_HUMAN UniProtKB/TrEMBL
  A0A0B5J4C1_HUMAN UniProtKB/TrEMBL
  A0A0B5J4C4_HUMAN UniProtKB/TrEMBL
  A0A140F378_HUMAN UniProtKB/TrEMBL
  A0A140F379_HUMAN UniProtKB/TrEMBL
  A0A140F380_HUMAN UniProtKB/TrEMBL
  A0A140F381_HUMAN UniProtKB/TrEMBL
  FOXE3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5SVY9 ENTREZGENE
  Q9NQV9 ENTREZGENE
UniProt Secondary Q5SVY9 UniProtKB/Swiss-Prot
  Q9NQV9 UniProtKB/Swiss-Prot