PAX6 (paired box 6) - Rat Genome Database

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Gene: PAX6 (paired box 6) Homo sapiens
Analyze
Symbol: PAX6
Name: paired box 6
RGD ID: 737459
HGNC Page HGNC:8620
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; R-SMAD binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including camera-type eye development; pancreatic A cell development; and positive regulation of macromolecule biosynthetic process. Located in cytosol and nucleoplasm. Part of chromatin. Implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Biomarker of pancreatic ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alternative protein PAX6; AN; AN1; AN2; Aniridia 1; Aniridia 2; aniridia type II protein; ASGD5; D11S812E; FVH1; MGC17209; MGDA; oculorhombin; paired box 6 PAX6-12a isoform; paired box 6 PAX6A-ASdel6 isoform; paired box 6 PAX6A-ASdel6-AS7 isoform; paired box 6 PAX6A-del6 isoform; paired box 6 PAX6B-ASdel6 isoform; paired box 6 PAX6D isoform; paired box homeotic gene-6; paired box protein Pax-6; WAGR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381131,789,026 - 31,817,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1131,784,779 - 31,817,961 (-)EnsemblGRCh38hg38GRCh38
GRCh371131,810,574 - 31,839,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361131,767,034 - 31,789,455 (-)NCBINCBI36Build 36hg18NCBI36
Build 341131,768,057 - 31,789,341NCBI
Celera1131,953,799 - 31,986,960 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBIHuRef
CHM1_11131,805,847 - 31,839,030 (-)NCBICHM1_1
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-cotinine  (EXP)
(S)-colchicine  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
abacavir  (EXP)
acetaldehyde  (ISO)
acetic acid  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
aldicarb  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
Aroclor 1254  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
bucladesine  (EXP)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (ISO)
carbaryl  (EXP)
carbofuran  (ISO)
CHIR 99021  (EXP)
CHIR-98014  (EXP)
chlorpyrifos  (EXP)
choline  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
cytarabine  (EXP)
D-glucose  (ISO)
dabigatran  (EXP)
DDT  (EXP)
decabromodiphenyl ether  (EXP,ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diazinon  (EXP)
diclofenac  (ISO)
dieldrin  (EXP)
diethyl hydrogen phosphate  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethosuximide  (ISO)
flusilazole  (ISO)
folic acid  (EXP,ISO)
fructose  (ISO)
gamma-hexachlorocyclohexane  (EXP)
glucose  (ISO)
glyphosate  (EXP,ISO)
heptachlor  (EXP)
herbicide  (EXP)
hexachlorophene  (EXP,ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
lumiracoxib  (ISO)
maneb  (ISO)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
Morroniside  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nicotine  (ISO)
nilotinib  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paraquat  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (EXP)
potassium chromate  (EXP)
propanal  (EXP)
propiconazole  (ISO)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
T-2 toxin  (ISO)
tert-butyl hydroperoxide  (EXP)
Tetrachlorobisphenol A  (EXP)
thalidomide  (EXP)
thapsigargin  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vismodegib  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (TAS)
anterior/posterior pattern specification  (IEA,ISO)
astrocyte differentiation  (IEA,ISO)
axon guidance  (IEA,ISO)
axonogenesis  (IEA,ISO)
blood vessel development  (IMP)
brain development  (IEA,ISO)
camera-type eye development  (IEA,ISO)
cell differentiation  (IEA,ISO)
cell fate commitment  (IEA,ISO)
cell fate determination  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cellular response to fibroblast growth factor stimulus  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to insulin stimulus  (IEA,ISO)
cellular response to leukemia inhibitory factor  (IEA,ISO)
cellular response to prostaglandin E stimulus  (IEA,ISO)
cellular response to xenobiotic stimulus  (IEA,ISO)
central nervous system development  (TAS)
cerebellum development  (IEA,ISO)
cerebral cortex development  (IEA)
cerebral cortex regionalization  (IEA,ISO)
chromatin remodeling  (IEA)
commitment of neuronal cell to specific neuron type in forebrain  (IEA,ISO)
cornea development in camera-type eye  (IMP)
dorsal/ventral axis specification  (IEA,ISO)
dorsal/ventral pattern formation  (IEA,ISO)
embryonic camera-type eye morphogenesis  (IEA,ISO)
epithelial cell development  (IEA,ISO)
establishment of mitotic spindle orientation  (IEA,ISO)
eye development  (TAS)
eye photoreceptor cell development  (IEA,ISO)
forebrain development  (IEA,ISO)
forebrain dorsal/ventral pattern formation  (IEA,ISO)
forebrain-midbrain boundary formation  (IEA,ISO)
gene expression  (IEA,ISO)
glandular epithelial cell differentiation  (IEA,ISO)
glucose homeostasis  (IMP)
habenula development  (IEA,ISO)
hindbrain development  (IEA,ISO)
insulin metabolic process  (IEA,ISO)
interkinetic nuclear migration  (IEA,ISO)
iris morphogenesis  (IMP)
keratinocyte differentiation  (IEA,ISO)
lacrimal gland development  (IEA,ISO)
learned vocalization behavior or vocal learning  (IEA,ISO)
lens development in camera-type eye  (IEA,ISO)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of neural precursor cell proliferation  (IEA,ISO)
negative regulation of neuroblast proliferation  (IEA,ISO)
negative regulation of neurogenesis  (ISS)
negative regulation of neuron differentiation  (IEA,ISO)
negative regulation of protein phosphorylation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISS)
nervous system development  (IEA,IMP)
neural crest cell migration  (IEA,ISO)
neural precursor cell proliferation  (IEA,ISO)
neuroblast proliferation  (IEA,ISO)
neuron differentiation  (IEA,ISO)
neuron fate commitment  (NAS)
neuron migration  (IEA,ISO)
olfactory bulb development  (IEA,ISO)
olfactory bulb mitral cell layer development  (IEA,ISO)
oligodendrocyte cell fate specification  (IEA,ISO)
pallium development  (IEA,ISO)
pancreatic A cell development  (IEA,IMP)
pancreatic A cell differentiation  (IEA,ISO)
pituitary gland development  (IEA,ISO)
positive regulation of cell fate specification  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA,IEA,IMP)
positive regulation of epithelial cell differentiation  (IEA,ISO)
positive regulation of gene expression  (IEA,IMP,ISO)
positive regulation of glutamatergic neuron differentiation  (IEA,ISO)
positive regulation of miRNA transcription  (IDA)
positive regulation of neuroblast proliferation  (IEA,ISO)
positive regulation of neuron migration  (IEA,ISO)
positive regulation of response to biotic stimulus  (ISO)
positive regulation of transcription by RNA polymerase II  (IEA,IMP,ISO,ISS)
protein localization to organelle  (IEA,ISO)
regionalization  (IEA,ISO)
regulation of asymmetric cell division  (IEA,ISO)
regulation of cell migration  (IEA,ISO)
regulation of DNA-templated transcription  (IEA)
regulation of gene expression  (IEA,ISO)
regulation of neurogenesis  (IEA,ISO)
regulation of neuron differentiation  (IEA,ISO)
regulation of neuron projection development  (IEA,ISO)
regulation of timing of cell differentiation  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
response to ethanol  (IEA,ISO)
response to wounding  (IEP)
retina development in camera-type eye  (IEA,ISO)
rhombomere morphogenesis  (IEA,ISO)
salivary gland morphogenesis  (IEA,ISO)
sensory neuron migration  (IEA,ISO)
signal transduction involved in regulation of gene expression  (IEA,ISO)
smoothened signaling pathway  (IEA,ISO)
spinal cord development  (IEA,ISO)
telencephalon regionalization  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
type B pancreatic cell differentiation  (IEA,ISO)
ventral spinal cord development  (IEA,ISS)
visual perception  (TAS)

Cellular Component
chromatin  (IDA,IEA,ISA)
cytoplasm  (IDA)
cytosol  (IDA)
membrane  (IEA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating insulin concentration  (IAGP)
Abnormal corneal limbus morphology  (IAGP)
Abnormal glucose homeostasis  (IAGP)
Abnormal lens morphology  (IAGP)
Abnormal vagina morphology  (IAGP)
Abnormal vitreous humor morphology  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the pulmonary artery  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Ambiguous genitalia  (IAGP)
Amblyopia  (IAGP)
Aniridia  (IAGP)
Anophthalmia  (IAGP)
Anterior subcapsular cataract  (IAGP)
Anterior synechiae of the anterior chamber  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the macula  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral ptosis  (IAGP)
Cataract  (IAGP)
Central opacification of the cornea  (IAGP)
Chorioretinal coloboma  (IAGP)
Chorioretinal hypopigmentation  (IAGP)
Coloboma  (IAGP)
Congenital nystagmus  (IAGP)
Congenital onset  (IAGP)
Contiguous gene syndrome  (IAGP)
Corneal degeneration  (IAGP)
Corneal erosion  (IAGP)
Corneal neovascularization  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Deep anterior chamber  (IAGP)
Developmental cataract  (IAGP)
Developmental glaucoma  (IAGP)
Displacement of the urethral meatus  (IAGP)
Dysfunction of lateral corticospinal tracts  (IAGP)
Ectopia lentis  (IAGP)
Ectopia pupillae  (IAGP)
Everted lower lip vermilion  (IAGP)
Exotropia  (IAGP)
Generalized hyperpigmentation  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Glucose intolerance  (IAGP)
Gonadoblastoma  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Horizontal nystagmus  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hypoplasia of the iris  (IAGP)
Hypoplastic iris stroma  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased axial length of the globe  (IAGP)
Increased proinsulin:insulin ratio  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Keratitis  (IAGP)
Limbal stem cell deficiency  (IAGP)
Macular agenesis  (IAGP)
Macular hypoplasia  (IAGP)
Mask-like facies  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Morning glory anomaly  (IAGP)
Nephroblastoma  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ocular anterior segment dysgenesis  (IAGP)
Ocular hypertension  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Optic disc coloboma  (IAGP)
Optic nerve aplasia  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pendular nystagmus  (IAGP)
Peters anomaly  (IAGP)
Polymicrogyria  (IAGP)
Posterior embryotoxon  (IAGP)
Presenile cataracts  (IAGP)
Ptosis  (IAGP)
Reduced visual acuity  (IAGP)
Remnants of the hyaloid vascular system  (IAGP)
Renal insufficiency  (IAGP)
Retinal detachment  (IAGP)
Retinal vascular tortuosity  (IAGP)
Rieger anomaly  (IAGP)
Scanning speech  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Streak ovary  (IAGP)
Subcapsular cataract  (IAGP)
Thinning of Descemet membrane  (IAGP)
Typified by somatic mosaicism  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. PAX6 aniridia and interhemispheric brain anomalies. Abouzeid H, etal., Mol Vis. 2009 Oct 17;15:2074-83.
2. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. Axton R, etal., J Med Genet. 1997 Apr;34(4):279-86.
3. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Azuma N, etal., Am J Hum Genet. 1999 Sep;65(3):656-63.
4. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Azuma N, etal., Am J Hum Genet. 2003 Jun;72(6):1565-70. Epub 2003 Apr 29.
5. A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract. Cai F, etal., Mol Vis. 2010 Jun 22;16:1141-5.
6. A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus. Cao X, etal., Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.
7. A novel PAX6 deletion in a Chinese family with congenital aniridia. Chen JH, etal., Mol Vis. 2012;18:989-95. Epub 2012 Apr 21.
8. Mutation analysis of paired box 6 gene in inherited aniridia in northern China. Chen P, etal., Mol Vis. 2013 May 30;19:1169-77. Print 2013.
9. Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of (alpha)5(beta)1 integrin expression. Duncan MK, etal., J Cell Sci. 2000 Sep;113 ( Pt 18):3173-85.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. Gofflot F, etal., Am J Med Genet. 1999 Nov 26;87(3):207-16.
12. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters. Graw J, etal., Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4671-83.
13. Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families. Han W, etal., Invest Ophthalmol Vis Sci. 2009 Jan;50(1):47-56. doi: 10.1167/iovs.07-0813.
14. PAX6 haplotypes are associated with high myopia in Han chinese. Jiang B, etal., PLoS One. 2011 May 12;6(5):e19587. doi: 10.1371/journal.pone.0019587.
15. A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family. Jin C, etal., Mol Vis. 2012;18:465-70. Epub 2012 Feb 16.
16. Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. Kang Y, etal., Mol Vis. 2012;18:1750-4. Epub 2012 Jun 27.
17. PAX6 is expressed in pancreatic adenocarcinoma and is downregulated during induction of terminal differentiation. Lang D, etal., Mol Carcinog. 2008 Feb;47(2):148-56.
18. PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia. Lin Y, etal., Mol Vis. 2011;17:3116-20. Epub 2011 Nov 26.
19. Aberrant lens fiber differentiation in anterior subcapsular cataract formation: a process dependent on reduced levels of Pax6. Lovicu FJ, etal., Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1946-53.
20. Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. Manuel M, etal., BMC Dev Biol. 2008 May 28;8:59. doi: 10.1186/1471-213X-8-59.
21. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Mirzayans F, etal., Am J Hum Genet. 1995 Sep;57(3):539-48.
22. Association of paired box 6 with high myopia in Japanese. Miyake M, etal., Mol Vis. 2012;18:2726-35. Epub 2012 Nov 17.
23. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
24. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
25. Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+/- mouse model of aniridia. Ramaesh T, etal., Exp Eye Res. 2005 Aug;81(2):224-35.
26. Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development. Ramaesh T, etal., Exp Eye Res. 2009 Aug;89(2):263-73. doi: 10.1016/j.exer.2009.03.016. Epub 2009 Apr 2.
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Transcription factor Pax6 is expressed by astroglia after transient brain ischemia in the rat model. Steliga A, etal., Folia Neuropathol. 2013;51(3):203-13.
31. Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia. Stober G, etal., Biol Psychiatry 1999 Jun 15;45(12):1585-91.
32. Evaluation of Pax6 mutant rat as a model for autism. Umeda T, etal., PLoS One. 2010 Dec 21;5(12):e15500. doi: 10.1371/journal.pone.0015500.
33. Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia. Vincent MC, etal., Am J Ophthalmol. 2004 Dec;138(6):1016-21.
34. A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. Weisschuh N, etal., Mol Vis. 2012;18:751-7. Epub 2012 Mar 29.
35. Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3). Wen JH, etal., Diabetologia. 2009 Mar;52(3):504-13. Epub 2008 Nov 26.
36. Muller glia cells activation in rat retina after optic nerve injury: spatiotemporal correlation with transcription initiation factor IIb. Xu Y, etal., J Mol Neurosci. 2013 Sep;51(1):37-46. doi: 10.1007/s12031-012-9941-z. Epub 2013 Jan 9.
Additional References at PubMed
PMID:1302030   PMID:1345175   PMID:1505982   PMID:1684738   PMID:7550230   PMID:7666404   PMID:7698003   PMID:7757816   PMID:7909985   PMID:7951315   PMID:7958875   PMID:8111379  
PMID:8162071   PMID:8364574   PMID:8640214   PMID:8889548   PMID:9013587   PMID:9056723   PMID:9147640   PMID:9281415   PMID:9482572   PMID:9538891   PMID:9757029   PMID:9792406  
PMID:9856761   PMID:9882499   PMID:9931324   PMID:10079359   PMID:10234503   PMID:10346815   PMID:10359315   PMID:10506141   PMID:10610023   PMID:10737978   PMID:10747901   PMID:10955655  
PMID:11036080   PMID:11069920   PMID:11309364   PMID:11350962   PMID:11358870   PMID:11553050   PMID:11756345   PMID:11826019   PMID:11850181   PMID:12043047   PMID:12107410   PMID:12107413  
PMID:12324464   PMID:12325030   PMID:12477932   PMID:12552561   PMID:12634864   PMID:12710953   PMID:12731001   PMID:12789139   PMID:12868034   PMID:12923055   PMID:12953159   PMID:14702039  
PMID:14872040   PMID:15066147   PMID:15079031   PMID:15086958   PMID:15143176   PMID:15389894   PMID:15489334   PMID:15659382   PMID:15677484   PMID:15735909   PMID:15757974   PMID:15889018  
PMID:15918896   PMID:16098226   PMID:16115881   PMID:16303743   PMID:16344560   PMID:16407227   PMID:16493447   PMID:16511221   PMID:16543198   PMID:16554811   PMID:16582099   PMID:16604056  
PMID:16637659   PMID:16675956   PMID:16712695   PMID:16785853   PMID:16803629   PMID:16873704   PMID:17031679   PMID:17148041   PMID:17202185   PMID:17251190   PMID:17291498   PMID:17318412  
PMID:17415970   PMID:17417613   PMID:17485622   PMID:17568989   PMID:17595013   PMID:17653045   PMID:17679951   PMID:17893655   PMID:17896318   PMID:17898260   PMID:17901057   PMID:17908181  
PMID:17947347   PMID:17948041   PMID:17982423   PMID:18029348   PMID:18070176   PMID:18241071   PMID:18243151   PMID:18273794   PMID:18332330   PMID:18334930   PMID:18393239   PMID:18421978  
PMID:18440259   PMID:18467663   PMID:18593849   PMID:18595732   PMID:18616618   PMID:18754095   PMID:18766996   PMID:18776953   PMID:18973570   PMID:19142206   PMID:19218613   PMID:19274049  
PMID:19414065   PMID:19607881   PMID:19650334   PMID:19651775   PMID:19686589   PMID:19790232   PMID:19793656   PMID:19806578   PMID:19806579   PMID:19898691   PMID:19907666   PMID:19917615  
PMID:19948975   PMID:20054790   PMID:20074565   PMID:20301534   PMID:20301552   PMID:20308539   PMID:20360993   PMID:20379614   PMID:20396773   PMID:20413449   PMID:20523026   PMID:20577777  
PMID:20592023   PMID:20621053   PMID:20713004   PMID:20725088   PMID:20801516   PMID:20806047   PMID:21084637   PMID:21092858   PMID:21169528   PMID:21271670   PMID:21321669   PMID:21348901  
PMID:21353197   PMID:21397818   PMID:21421876   PMID:21524647   PMID:21617155   PMID:21633710   PMID:21655361   PMID:21691140   PMID:21697133   PMID:21710692   PMID:21816254   PMID:21850189  
PMID:21873635   PMID:21904390   PMID:21922321   PMID:21935435   PMID:21944253   PMID:21948554   PMID:21985185   PMID:21988832   PMID:21997878   PMID:22025896   PMID:22103961   PMID:22146551  
PMID:22171686   PMID:22344219   PMID:22361317   PMID:22392277   PMID:22393275   PMID:22447870   PMID:22561546   PMID:22583899   PMID:22621390   PMID:22809227   PMID:22860217   PMID:22893676  
PMID:23044950   PMID:23146210   PMID:23211052   PMID:23566044   PMID:23931477   PMID:23942204   PMID:23970099   PMID:23990468   PMID:24078574   PMID:24143217   PMID:24185687   PMID:24281366  
PMID:24290376   PMID:24349436   PMID:24357251   PMID:24390526   PMID:24454925   PMID:24505629   PMID:24562376   PMID:24623969   PMID:24637479   PMID:24737507   PMID:24787241   PMID:24802670  
PMID:24939714   PMID:24952347   PMID:25029272   PMID:25030175   PMID:25051057   PMID:25189681   PMID:25313118   PMID:25342853   PMID:25433656   PMID:25542770   PMID:25555363   PMID:25578969  
PMID:25678763   PMID:25687215   PMID:25696017   PMID:25746674   PMID:25804118   PMID:26045558   PMID:26130484   PMID:26180087   PMID:26295830   PMID:26345820   PMID:26394807   PMID:26439359  
PMID:26440771   PMID:26496610   PMID:26535646   PMID:26617874   PMID:26661695   PMID:26849621   PMID:26879676   PMID:26899008   PMID:27110298   PMID:27124303   PMID:27229137   PMID:27431685  
PMID:27470361   PMID:27555585   PMID:27583466   PMID:27818314   PMID:27941241   PMID:28035389   PMID:28157223   PMID:28184912   PMID:28300742   PMID:28321846   PMID:28332226   PMID:28473536  
PMID:28488383   PMID:28760551   PMID:28946814   PMID:29050852   PMID:29112933   PMID:29217025   PMID:29345189   PMID:29380764   PMID:29426014   PMID:29436400   PMID:29568088   PMID:29618921  
PMID:29716531   PMID:29807013   PMID:29844126   PMID:29901133   PMID:29902091   PMID:29930474   PMID:29932076   PMID:29979246   PMID:29980786   PMID:30007277   PMID:30015924   PMID:30151985  
PMID:30221735   PMID:30286322   PMID:30291432   PMID:30334364   PMID:30362313   PMID:30426773   PMID:30453065   PMID:30457409   PMID:30572005   PMID:30592234   PMID:30594196   PMID:30621664  
PMID:30636604   PMID:30804502   PMID:30985247   PMID:30986449   PMID:30999923   PMID:31133012   PMID:31161946   PMID:31174676   PMID:31361967   PMID:31700164   PMID:31708273   PMID:31734509  
PMID:31861090   PMID:31943460   PMID:32016663   PMID:32080308   PMID:32125788   PMID:32209258   PMID:32238831   PMID:32296183   PMID:32396632   PMID:32422284   PMID:32467297   PMID:32587369  
PMID:32608213   PMID:32627030   PMID:32686664   PMID:32744312   PMID:32826860   PMID:32857266   PMID:32920601   PMID:33099925   PMID:33169869   PMID:33432525   PMID:33515537   PMID:33544864  
PMID:33594928   PMID:33622875   PMID:33745259   PMID:33782094   PMID:33961781   PMID:34016071   PMID:34065151   PMID:34101622   PMID:34108663   PMID:34174135   PMID:34183436   PMID:34344282  
PMID:34345029   PMID:34415986   PMID:34428276   PMID:34459131   PMID:34500082   PMID:34547965   PMID:34610801   PMID:34866540   PMID:34893493   PMID:34942114   PMID:34954205   PMID:34974810  
PMID:34989314   PMID:35016586   PMID:35034608   PMID:35140242   PMID:35743132   PMID:35914814   PMID:36089195   PMID:36202929   PMID:36205257   PMID:36599958   PMID:36675087   PMID:36766742  
PMID:37191119   PMID:37266952   PMID:37510387   PMID:37553561   PMID:37724397   PMID:38002984   PMID:38056551   PMID:38441200   PMID:38679634  


Genomics

Comparative Map Data
PAX6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381131,789,026 - 31,817,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1131,784,779 - 31,817,961 (-)EnsemblGRCh38hg38GRCh38
GRCh371131,810,574 - 31,839,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361131,767,034 - 31,789,455 (-)NCBINCBI36Build 36hg18NCBI36
Build 341131,768,057 - 31,789,341NCBI
Celera1131,953,799 - 31,986,960 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBIHuRef
CHM1_11131,805,847 - 31,839,030 (-)NCBICHM1_1
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBIT2T-CHM13v2.0
Pax6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392105,499,241 - 105,528,755 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2105,499,245 - 105,527,709 (+)EnsemblGRCm39 Ensembl
GRCm382105,668,896 - 105,698,410 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2105,668,900 - 105,697,364 (+)EnsemblGRCm38mm10GRCm38
MGSCv372105,516,602 - 105,537,226 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362105,477,284 - 105,497,908 (+)NCBIMGSCv36mm8
Celera2106,897,827 - 106,918,452 (+)NCBICelera
Cytogenetic Map2E3NCBI
cM Map255.31NCBI
Pax6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83112,590,034 - 112,611,771 (+)NCBIGRCr8
mRatBN7.2392,128,772 - 92,157,022 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl392,135,637 - 92,157,014 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx395,631,693 - 95,652,650 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03104,230,622 - 104,251,579 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03102,058,594 - 102,079,600 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0395,700,241 - 95,728,682 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl395,707,386 - 95,728,624 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03102,320,059 - 102,348,223 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4391,127,605 - 91,149,178 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1391,023,827 - 91,045,776 (+)NCBI
Celera391,190,477 - 91,211,449 (+)NCBICelera
RH 3.4 Map3722.9RGD
Cytogenetic Map3q33NCBI
Pax6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547610,058,961 - 10,074,162 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547610,058,979 - 10,074,668 (-)NCBIChiLan1.0ChiLan1.0
PAX6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2933,999,843 - 34,029,009 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11134,004,314 - 34,033,443 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01131,753,190 - 31,782,225 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11131,641,813 - 31,671,071 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1131,641,813 - 31,664,474 (-)Ensemblpanpan1.1panPan2
PAX6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1835,260,520 - 35,281,796 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01836,247,894 - 36,277,423 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1836,247,935 - 36,276,689 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11835,828,719 - 35,849,973 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01835,410,013 - 35,431,263 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01836,045,041 - 36,066,313 (+)NCBIUU_Cfam_GSD_1.0
Pax6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494732,827,732 - 32,856,209 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365335,957,971 - 5,982,075 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365335,952,529 - 5,980,889 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAX6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl228,978,287 - 29,001,200 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1228,971,565 - 29,001,149 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2231,478,545 - 31,510,656 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PAX6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1133,386,165 - 33,414,605 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl133,392,970 - 33,414,587 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038130,542,963 - 130,572,341 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pax6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476620,536,233 - 20,554,759 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476620,536,581 - 20,554,589 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PAX6
512 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001368894.2(PAX6):c.1102_1106dup (p.Cys370fs) duplication Aniridia 1 [RCV000548212] Chr11:31790828..31790829 [GRCh38]
Chr11:31812376..31812377 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) single nucleotide variant Aniridia 1 [RCV000033168]|Aniridia 1 [RCV003764654]|Coloboma, ocular, autosomal dominant [RCV003883464] Chr11:31802733 [GRCh38]
Chr11:31824281 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.889_890dup (p.Ser297fs) duplication Aniridia 1 [RCV000003623] Chr11:31793719..31793720 [GRCh38]
Chr11:31815267..31815268 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.725-6T>A single nucleotide variant Aniridia 1 [RCV000003624] Chr11:31794120 [GRCh38]
Chr11:31815668 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.448C>T (p.Gln150Ter) single nucleotide variant Aniridia 1 [RCV000003625] Chr11:31800808 [GRCh38]
Chr11:31822356 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter) single nucleotide variant Aniridia 1 [RCV000984456]|Cataracts, congenital, with late-onset corneal dystrophy [RCV000003626] Chr11:31790835 [GRCh38]
Chr11:31812383 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly) single nucleotide variant ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE [RCV000003627]|Aniridia 1 [RCV000003628]|Coloboma, ocular, autosomal dominant [RCV003883463] Chr11:31802769 [GRCh38]
Chr11:31824317 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter) single nucleotide variant Aniridia 1 [RCV000003629]|Aniridia 1 [RCV001851620]|not provided [RCV000414332] Chr11:31801611 [GRCh38]
Chr11:31823159 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1225G>C (p.Gly409Arg) single nucleotide variant Aniridia 1 [RCV000003630] Chr11:31790710 [GRCh38]
Chr11:31812258 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) single nucleotide variant Aniridia 1 [RCV000003631]|Aniridia 1 [RCV000543409]|not provided [RCV000790810] Chr11:31794705 [GRCh38]
Chr11:31816253 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) single nucleotide variant Aniridia 1 [RCV000003632]|Aniridia 1 [RCV000536976]|not provided [RCV000312176] Chr11:31794079 [GRCh38]
Chr11:31815627 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1075-2A>G single nucleotide variant Aniridia 1 [RCV000003633]|Aniridia 1 [RCV001238030]|not provided [RCV000414592] Chr11:31790862 [GRCh38]
Chr11:31812410 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.959-2A>T single nucleotide variant Autosomal dominant keratitis [RCV001804148] Chr11:31793555 [GRCh38]
Chr11:31815103 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) single nucleotide variant Aniridia 1 [RCV000984410]|Aniridia 1 [RCV001851621]|Foveal hypoplasia 1 [RCV000003635] Chr11:31800832 [GRCh38]
Chr11:31822380 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp) single nucleotide variant Aniridia 1 [RCV002512714]|Aniridia, atypical [RCV000003636] Chr11:31800837 [GRCh38]
Chr11:31822385 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.233G>T (p.Gly78Val) single nucleotide variant Aniridia 1 [RCV000984384]|Foveal hypoplasia 1 with cataract [RCV000003637] Chr11:31801727 [GRCh38]
Chr11:31823275 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.161T>A (p.Val54Asp) single nucleotide variant ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES [RCV000003638]|Foveal hypoplasia 1 with or without anterior segment anomalies [RCV000128793] Chr11:31801893 [GRCh38]
Chr11:31823441 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) single nucleotide variant Aniridia 1 [RCV000003642]|Aniridia 1 [RCV000762838]|Aniridia 1 [RCV000805010]|Hypertelorism [RCV000785745]|not provided [RCV000327291] Chr11:31789935 [GRCh38]
Chr11:31811483 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|no classifications from unflagged records
NM_001368894.2(PAX6):c.244C>T (p.Pro82Ser) single nucleotide variant Coloboma of optic nerve [RCV000003643] Chr11:31801716 [GRCh38]
Chr11:31823264 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter) single nucleotide variant Aniridia 1 [RCV001246978]|Isolated optic nerve hypoplasia [RCV000003644]|not provided [RCV000481122] Chr11:31794699 [GRCh38]
Chr11:31816247 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.815T>C (p.Phe272Ser) single nucleotide variant Coloboma, ocular, autosomal dominant [RCV003883461] Chr11:31793795 [GRCh38]
Chr11:31815343 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1213A>G (p.Thr405Ala) single nucleotide variant Optic nerve aplasia, bilateral [RCV000003647] Chr11:31790722 [GRCh38]
Chr11:31812270 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.10+5G>C single nucleotide variant Foveal hypoplasia 1 [RCV000003648] Chr11:31806397 [GRCh38]
Chr11:31827945 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.767G>C (p.Arg256Thr) single nucleotide variant Aniridia 1 [RCV000003649] Chr11:31794072 [GRCh38]
Chr11:31815620 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg) single nucleotide variant Aniridia 1 [RCV000003650]|not provided [RCV003105769] Chr11:31801561 [GRCh38]
Chr11:31823109 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.-129+2T>A single nucleotide variant Aniridia 1 [RCV000003651]|Aniridia 1 [RCV003764525] Chr11:31810826 [GRCh38]
Chr11:31832374 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.813G>A (p.Trp271Ter) single nucleotide variant Aniridia 1 [RCV000003652] Chr11:31793797 [GRCh38]
Chr11:31815345 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.3G>A (p.Met1Ile) single nucleotide variant Aniridia 1 [RCV000544207] Chr11:31806409 [GRCh38]
Chr11:31827957 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.424C>A (p.Arg142Ser) single nucleotide variant not specified [RCV000519413] Chr11:31800832 [GRCh38]
Chr11:31822380 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.465C>G (p.Gly155=) single nucleotide variant Aniridia 1 [RCV002063099]|not provided [RCV000877253]|not specified [RCV000603152] Chr11:31800791 [GRCh38]
Chr11:31822339 [GRCh37]
Chr11:11p13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter) single nucleotide variant Aniridia 1 [RCV000527030] Chr11:31802725 [GRCh38]
Chr11:31824273 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.141+3G>C single nucleotide variant Aniridia 1 [RCV000551981] Chr11:31802701 [GRCh38]
Chr11:31824249 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1225+1G>T single nucleotide variant Inborn genetic diseases [RCV002527590]|not provided [RCV000519590] Chr11:31790709 [GRCh38]
Chr11:31812257 [GRCh37]
Chr11:11p13		 pathogenic
GRCh38/hg38 11p13(chr11:31780836-32088303)x3 copy number gain See cases [RCV000050556] Chr11:31780836..32088303 [GRCh38]
Chr11:31802384..32109849 [GRCh37]
Chr11:31758960..32066425 [NCBI36]
Chr11:11p13		 uncertain significance
GRCh38/hg38 11p13(chr11:31634904-32088303)x3 copy number gain See cases [RCV000050617] Chr11:31634904..32088303 [GRCh38]
Chr11:31656451..32109849 [GRCh37]
Chr11:31613027..32066425 [NCBI36]
Chr11:11p13		 uncertain significance
GRCh38/hg38 11p13(chr11:31528093-31807593)x1 copy number loss See cases [RCV000052676] Chr11:31528093..31807593 [GRCh38]
Chr11:31549640..31829141 [GRCh37]
Chr11:31506216..31785717 [NCBI36]
Chr11:11p13		 pathogenic
GRCh38/hg38 11p13(chr11:31765618-31792086)x1 copy number loss See cases [RCV000052677] Chr11:31765618..31792086 [GRCh38]
Chr11:31787166..31813634 [GRCh37]
Chr11:31743742..31770210 [NCBI36]
Chr11:11p13		 pathogenic
GRCh38/hg38 11p13(chr11:31788949-31800869)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052678]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052678]|See cases [RCV000052678] Chr11:31788949..31800869 [GRCh38]
Chr11:31810497..31822417 [GRCh37]
Chr11:31767073..31778993 [NCBI36]
Chr11:11p13		 pathogenic
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12		 pathogenic
NM_001368894.2(PAX6):c.921_936dup (p.Ile313fs) duplication not provided [RCV000173670] Chr11:31793673..31793674 [GRCh38]
Chr11:31815221..31815222 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) single nucleotide variant Anterior segment dysgenesis [RCV001200041]|Irido-corneo-trabecular dysgenesis [RCV000059340] Chr11:31801766 [GRCh38]
Chr11:31823314 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_000280.4(PAX6):c.541G>A (p.Glu181Lys) single nucleotide variant Malignant melanoma [RCV000062195] Chr11:31794771 [GRCh38]
Chr11:31816319 [GRCh37]
Chr11:31772895 [NCBI36]
Chr11:11p13		 not provided
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) single nucleotide variant Aniridia 1 [RCV000877068]|PAX6-related disorder [RCV004537305]|not provided [RCV001727559]|not specified [RCV000078542] Chr11:31802715 [GRCh38]
Chr11:31824263 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.399+1G>A single nucleotide variant Aniridia 1 [RCV000707094]|Aniridia 1 [RCV000984403]|PAX6-related disorder [RCV004537306]|not provided [RCV000078543] Chr11:31801560 [GRCh38]
Chr11:31823108 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.46del (p.Val16fs) deletion not provided [RCV000178745] Chr11:31802799 [GRCh38]
Chr11:31824347 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter) single nucleotide variant not provided [RCV000171191] Chr11:31793492 [GRCh38]
Chr11:31815040 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.1280_1284dup (p.Ser429fs) duplication not provided [RCV000174463] Chr11:31789960..31789961 [GRCh38]
Chr11:31811508..31811509 [GRCh37]
Chr11:11p13		 pathogenic
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 copy number loss See cases [RCV000135295] Chr11:26368962..35252976 [GRCh38]
Chr11:26390509..35274523 [GRCh37]
Chr11:26347085..35231099 [NCBI36]
Chr11:11p14.2-13		 pathogenic
GRCh38/hg38 11p13(chr11:31299323-31790071)x1 copy number loss See cases [RCV000135618] Chr11:31299323..31790071 [GRCh38]
Chr11:31320870..31811619 [GRCh37]
Chr11:31277446..31768195 [NCBI36]
Chr11:11p13		 pathogenic
GRCh38/hg38 11p13(chr11:31796707-31924368)x3 copy number gain See cases [RCV000138154] Chr11:31796707..31924368 [GRCh38]
Chr11:31818255..31945914 [GRCh37]
Chr11:31774831..31902490 [NCBI36]
Chr11:11p13		 uncertain significance
GRCh38/hg38 11p13(chr11:31804176-31817620)x1 copy number loss See cases [RCV000139152] Chr11:31804176..31817620 [GRCh38]
Chr11:31825724..31839168 [GRCh37]
Chr11:31782300..31795744 [NCBI36]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.-129+9G>A single nucleotide variant 11p partial monosomy syndrome [RCV000395452]|Aniridia 1 [RCV000340726]|Aniridia 1 [RCV001521912]|Anophthalmia-microphthalmia syndrome [RCV000395429]|Autosomal dominant keratitis [RCV000401317]|Congenital aniridia [RCV000342099]|Foveal hypoplasia 1 [RCV000305825]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000290390]|not provided [RCV001610522]|not specified [RCV000202974] Chr11:31810819 [GRCh38]
Chr11:31832367 [GRCh37]
Chr11:11p13		 likely pathogenic|benign|likely benign
GRCh38/hg38 11p13(chr11:31600532-32122801)x3 copy number gain See cases [RCV000139998] Chr11:31600532..32122801 [GRCh38]
Chr11:31622079..32144347 [GRCh37]
Chr11:31578655..32100923 [NCBI36]
Chr11:11p13		 pathogenic
GRCh38/hg38 11p13(chr11:31720362-32325516)x3 copy number gain See cases [RCV000141863] Chr11:31720362..32325516 [GRCh38]
Chr11:31741910..32347062 [GRCh37]
Chr11:31698486..32303638 [NCBI36]
Chr11:11p13		 uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13		 pathogenic
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro) single nucleotide variant 11p partial monosomy syndrome [RCV000768370]|not provided [RCV000994596] Chr11:31801652 [GRCh38]
Chr11:31823200 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=) single nucleotide variant Aniridia 1 [RCV001518660]|PAX6-related disorder [RCV004532730]|not provided [RCV000723685]|not specified [RCV000153640] Chr11:31793480 [GRCh38]
Chr11:31815028 [GRCh37]
Chr11:11p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207422]|not provided [RCV000153641] Chr11:31801768 [GRCh38]
Chr11:31823316 [GRCh37]
Chr11:11p13		 pathogenic|uncertain significance
NC_000011.8:g.31698271_31794414del96144 deletion Congenital aniridia [RCV000257296] Chr11:31720147..31816290 [GRCh38]
Chr11:31741695..31837838 [GRCh37]
Chr11:31698271..31794414 [NCBI36]
Chr11:11p13		 pathogenic
NC_000011.8:g.31199000_31914000del715001 deletion Congenital aniridia [RCV000257713] Chr11:31242424..31957424 [GRCh37]
Chr11:31199000..31914000 [NCBI36]
Chr11:11p13		 pathogenic
NC_000011.8:g.31779000_31933000del154001 deletion Congenital aniridia [RCV000256836] Chr11:31822424..31976424 [GRCh37]
Chr11:31779000..31933000 [NCBI36]
Chr11:11p13		 pathogenic
NC_000011.8:g.31199000_31849000del650001 deletion Congenital aniridia [RCV000257160] Chr11:31242424..31892424 [GRCh37]
Chr11:31199000..31849000 [NCBI36]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) single nucleotide variant 11p partial monosomy syndrome [RCV000342402]|Aniridia 1 [RCV000400886]|Aniridia 1 [RCV001086844]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000301599]|Anophthalmia-microphthalmia syndrome [RCV000381110]|Autosomal dominant keratitis [RCV000346346]|Foveal hypoplasia 1 [RCV000395656]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000291396]|not provided [RCV000297452] Chr11:31790756 [GRCh38]
Chr11:31812304 [GRCh37]
Chr11:11p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001368894.2(PAX6):c.239T>A (p.Ile80Asn) single nucleotide variant Developmental cataract [RCV000203333] Chr11:31801721 [GRCh38]
Chr11:31823269 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.1119del (p.Thr374fs) deletion Aniridia 1 [RCV000984459]|Developmental cataract [RCV000203337] Chr11:31790816 [GRCh38]
Chr11:31812364 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.241A>T (p.Arg81Ter) single nucleotide variant not provided [RCV000255443] Chr11:31801719 [GRCh38]
Chr11:31823267 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter) single nucleotide variant not provided [RCV000579241] Chr11:31794781 [GRCh38]
Chr11:31816329 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.844G>T (p.Glu282Ter) single nucleotide variant not provided [RCV000519019] Chr11:31793766 [GRCh38]
Chr11:31815314 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter) single nucleotide variant Aniridia 1 [RCV000984413]|Aniridia 1 [RCV001860432]|Inborn genetic diseases [RCV000622960] Chr11:31800746 [GRCh38]
Chr11:31822294 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.114_121del (p.Pro39fs) deletion Aniridia 1 [RCV000584778] Chr11:31802724..31802731 [GRCh38]
Chr11:31824272..31824279 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.3G>T (p.Met1Ile) single nucleotide variant Aniridia 1 [RCV000584820] Chr11:31806409 [GRCh38]
Chr11:31827957 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p13(chr11:31284306-32458309)x1 copy number loss See cases [RCV000240076] Chr11:31284306..32458309 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.808-12C>T single nucleotide variant 11p partial monosomy syndrome [RCV000380248]|Abnormality of refraction [RCV002226702]|Aniridia 1 [RCV000284718]|Aniridia 1 [RCV001512870]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000382578]|Anophthalmia-microphthalmia syndrome [RCV000329038]|Autosomal dominant keratitis [RCV000269341]|Foveal hypoplasia 1 [RCV000339789]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000383559]|not provided [RCV001683027]|not specified [RCV000248742] Chr11:31793814 [GRCh38]
Chr11:31815362 [GRCh37]
Chr11:11p13		 benign|uncertain significance
GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1 copy number loss See cases [RCV000240268] Chr11:30615127..40606139 [GRCh37]
Chr11:11p14.1-12		 pathogenic
GRCh37/hg19 11p13(chr11:31802384-31825698)x1 copy number loss See cases [RCV000240516] Chr11:31802384..31825698 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1215C>T (p.Thr405=) single nucleotide variant not specified [RCV000243305] Chr11:31790720 [GRCh38]
Chr11:31812268 [GRCh37]
Chr11:11p13		 likely benign
NM_019040.5(ELP4):c.*2114C>G single nucleotide variant 11p partial monosomy syndrome [RCV000300259]|Aniridia 1 [RCV000345765]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000407248]|Anophthalmia-microphthalmia syndrome [RCV000405069]|Autosomal dominant keratitis [RCV000357434]|Foveal hypoplasia 1 [RCV000315571]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000367340] Chr11:31785638 [GRCh38]
Chr11:31807186 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*4105C>T single nucleotide variant 11p partial monosomy syndrome [RCV000338811]|Aniridia 1 [RCV000287214]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000378342]|Anophthalmia-microphthalmia syndrome [RCV000402026]|Autosomal dominant keratitis [RCV000298046]|Foveal hypoplasia 1 [RCV000283877]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000342146]|not provided [RCV001683228] Chr11:31787629 [GRCh38]
Chr11:31809177 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*1877A>G single nucleotide variant 11p partial monosomy syndrome [RCV000362512]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000313520]|Anophthalmia-microphthalmia syndrome [RCV000310183]|Autosomal dominant keratitis [RCV000405656]|Congenital aniridia [RCV000340700]|Foveal hypoplasia 1 [RCV000283304]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000391067] Chr11:31785401 [GRCh38]
Chr11:31806949 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.753G>A (p.Val251=) single nucleotide variant 11p partial monosomy syndrome [RCV000398566]|Aniridia 1 [RCV000337620]|Aniridia 1 [RCV001514487]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000285944]|Anophthalmia-microphthalmia syndrome [RCV000310966]|Autosomal dominant keratitis [RCV000301339]|Foveal hypoplasia 1 [RCV000336368]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000394809]|not provided [RCV001566375] Chr11:31794086 [GRCh38]
Chr11:31815634 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_001368894.2(PAX6):c.*226T>C single nucleotide variant 11p partial monosomy syndrome [RCV000377012]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000318915]|Anophthalmia-microphthalmia syndrome [RCV000324563]|Autosomal dominant keratitis [RCV000267048]|Congenital aniridia [RCV000279082]|Foveal hypoplasia 1 [RCV000284798]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000375806] Chr11:31789708 [GRCh38]
Chr11:31811256 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4250C>T single nucleotide variant 11p partial monosomy syndrome [RCV000325742]|Aniridia 1 [RCV000267117]|Anophthalmia-microphthalmia syndrome [RCV000282254]|Autosomal dominant keratitis [RCV000380270]|Congenital aniridia [RCV000322069]|Foveal hypoplasia 1 [RCV000376648]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000270682]|not provided [RCV001653496] Chr11:31787774 [GRCh38]
Chr11:31809322 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*3433G>T single nucleotide variant 11p partial monosomy syndrome [RCV000381317]|Aniridia 1 [RCV000399807]|Anophthalmia-microphthalmia syndrome [RCV000289228]|Autosomal dominant keratitis [RCV000346404]|Congenital aniridia [RCV000343063]|Foveal hypoplasia 1 [RCV000285847]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000311467] Chr11:31786957 [GRCh38]
Chr11:31808505 [GRCh37]
Chr11:11p13		 likely benign
NM_019040.5(ELP4):c.*3164_*3165insAAAA insertion 11p partial monosomy syndrome [RCV000359957]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000392047]|Anophthalmia [RCV000392032]|Autosomal dominant keratitis [RCV000358681]|Congenital aniridia [RCV000305344]|Foveal hypoplasia 1 [RCV000299243]|Irido-corneo-trabecular dysgenesis [RCV000270087]|not provided [RCV001538955] Chr11:31786687..31786688 [GRCh38]
Chr11:31808235..31808236 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*5347T>C single nucleotide variant 11p partial monosomy syndrome [RCV000362658]|Aniridia 1 [RCV000368259]|Anophthalmia-microphthalmia syndrome [RCV000399196]|Autosomal dominant keratitis [RCV000328843]|Congenital aniridia [RCV000311214]|Foveal hypoplasia 1 [RCV000369538]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000271497] Chr11:31788871 [GRCh38]
Chr11:31810419 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*4932G>A single nucleotide variant 11p partial monosomy syndrome [RCV000291615]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000346558]|Anophthalmia-microphthalmia syndrome [RCV000343373]|Autosomal dominant keratitis [RCV000288429]|Congenital aniridia [RCV000385923]|Foveal hypoplasia 1 [RCV000399687]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000400557] Chr11:31788456 [GRCh38]
Chr11:31810004 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.-180A>G single nucleotide variant 11p partial monosomy syndrome [RCV000272084]|Aniridia 1 [RCV000377154]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000342124]|Anophthalmia-microphthalmia syndrome [RCV000329407]|Autosomal dominant keratitis [RCV000285056]|Foveal hypoplasia 1 [RCV000380395]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000380717] Chr11:31810879 [GRCh38]
Chr11:31832427 [GRCh37]
Chr11:11p13		 likely benign
NM_019040.5(ELP4):c.*1783T>G single nucleotide variant 11p partial monosomy syndrome [RCV000324957]|Aniridia 1 [RCV000272198]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000364661]|Anophthalmia-microphthalmia syndrome [RCV000333529]|Autosomal dominant keratitis [RCV000302967]|Foveal hypoplasia 1 [RCV000381933]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000275846] Chr11:31785307 [GRCh38]
Chr11:31806855 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*2452C>T single nucleotide variant 11p partial monosomy syndrome [RCV000272675]|Aniridia 1 [RCV000307913]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000333466]|Anophthalmia-microphthalmia syndrome [RCV000386873]|Autosomal dominant keratitis [RCV000273772]|Foveal hypoplasia 1 [RCV000327646]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000362607]|not provided [RCV001683227] Chr11:31785976 [GRCh38]
Chr11:31807524 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.*335T>C single nucleotide variant 11p partial monosomy syndrome [RCV000325750]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000312872]|Anophthalmia-microphthalmia syndrome [RCV000365214]|Autosomal dominant keratitis [RCV000364057]|Congenital aniridia [RCV000272779]|Foveal hypoplasia 1 [RCV000399373]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000370623] Chr11:31789599 [GRCh38]
Chr11:31811147 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-107C>T single nucleotide variant 11p partial monosomy syndrome [RCV000344279]|Aniridia 1 [RCV000386945]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000289037]|Anophthalmia-microphthalmia syndrome [RCV000318475]|Autosomal dominant keratitis [RCV000387982]|Foveal hypoplasia 1 [RCV000292422]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000333413]|not provided [RCV003391067] Chr11:31806904 [GRCh38]
Chr11:31828452 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_001368894.2(PAX6):c.*356del deletion 11p partial monosomy syndrome [RCV000323080]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000271415]|Anophthalmia [RCV000380091]|Autosomal dominant keratitis [RCV000289083]|Congenital aniridia [RCV000328764]|Foveal hypoplasia 1 [RCV000368325]|Irido-corneo-trabecular dysgenesis [RCV000381185] Chr11:31789578 [GRCh38]
Chr11:31811126 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3208C>T single nucleotide variant 11p partial monosomy syndrome [RCV000386337]|Aniridia 1 [RCV000277532]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000331769]|Anophthalmia-microphthalmia syndrome [RCV000271960]|Autosomal dominant keratitis [RCV000325808]|Foveal hypoplasia 1 [RCV000332589]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000366442]|not provided [RCV001527735] Chr11:31786732 [GRCh38]
Chr11:31808280 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*4172A>C single nucleotide variant 11p partial monosomy syndrome [RCV000274301]|Aniridia 1 [RCV000368069]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000393911]|Anophthalmia-microphthalmia syndrome [RCV000313354]|Autosomal dominant keratitis [RCV000334283]|Foveal hypoplasia 1 [RCV000310659]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000365290] Chr11:31787696 [GRCh38]
Chr11:31809244 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*3528A>G single nucleotide variant 11p partial monosomy syndrome [RCV000330763]|Aniridia 1 [RCV000315769]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000328303]|Anophthalmia-microphthalmia syndrome [RCV000387677]|Autosomal dominant keratitis [RCV000295851]|Foveal hypoplasia 1 [RCV000365693]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000273485] Chr11:31787052 [GRCh38]
Chr11:31808600 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*3383C>T single nucleotide variant 11p partial monosomy syndrome [RCV000392243]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000345738]|Anophthalmia-microphthalmia syndrome [RCV000308649]|Autosomal dominant keratitis [RCV000314634]|Congenital aniridia [RCV000304870]|Foveal hypoplasia 1 [RCV000273407]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000367972] Chr11:31786907 [GRCh38]
Chr11:31808455 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_019040.5(ELP4):c.*5123T>A single nucleotide variant 11p partial monosomy syndrome [RCV000328249]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000288319]|Anophthalmia-microphthalmia syndrome [RCV000367996]|Autosomal dominant keratitis [RCV000379158]|Congenital aniridia [RCV000385089]|Foveal hypoplasia 1 [RCV000326989]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000275545] Chr11:31788647 [GRCh38]
Chr11:31810195 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_001368894.2(PAX6):c.*417C>T single nucleotide variant 11p partial monosomy syndrome [RCV000304850]|Aniridia 1 [RCV000344580]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000395638]|Anophthalmia-microphthalmia syndrome [RCV000291955]|Autosomal dominant keratitis [RCV000384032]|Foveal hypoplasia 1 [RCV000401249]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000343181] Chr11:31789517 [GRCh38]
Chr11:31811065 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*5016T>G single nucleotide variant 11p partial monosomy syndrome [RCV000300342]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000355143]|Anophthalmia-microphthalmia syndrome [RCV000331972]|Autosomal dominant keratitis [RCV000391903]|Congenital aniridia [RCV000276870]|Foveal hypoplasia 1 [RCV000303659]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000358612] Chr11:31788540 [GRCh38]
Chr11:31810088 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*1811A>C single nucleotide variant 11p partial monosomy syndrome [RCV000336938]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000335986]|Anophthalmia-microphthalmia syndrome [RCV000385650]|Autosomal dominant keratitis [RCV000293624]|Congenital aniridia [RCV000375402]|Foveal hypoplasia 1 [RCV000278465]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000391063] Chr11:31785335 [GRCh38]
Chr11:31806883 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*2525C>A single nucleotide variant 11p partial monosomy syndrome [RCV000305276]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000310707]|Anophthalmia-microphthalmia syndrome [RCV000392381]|Autosomal dominant keratitis [RCV000345704]|Congenital aniridia [RCV000311950]|Foveal hypoplasia 1 [RCV000365364]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000275544] Chr11:31786049 [GRCh38]
Chr11:31807597 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*3703G>A single nucleotide variant 11p partial monosomy syndrome [RCV000306938]|Aniridia 1 [RCV000392121]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000314986]|Anophthalmia-microphthalmia syndrome [RCV000368371]|Autosomal dominant keratitis [RCV000276213]|Foveal hypoplasia 1 [RCV000363855]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000311393]|not provided [RCV001636871] Chr11:31787227 [GRCh38]
Chr11:31808775 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*3998C>T single nucleotide variant 11p partial monosomy syndrome [RCV000295981]|Aniridia 1 [RCV000357038]|Aniridia 1 [RCV001521376]|Anophthalmia-microphthalmia syndrome [RCV000317253]|Autosomal dominant keratitis [RCV000320954]|Congenital aniridia [RCV000332508]|Foveal hypoplasia 1 [RCV000262036]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000371951]|not provided [RCV001598649] Chr11:31787522 [GRCh38]
Chr11:31809070 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*1302T>C single nucleotide variant 11p partial monosomy syndrome [RCV000354188]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000271935]|Anophthalmia-microphthalmia syndrome [RCV000262804]|Autosomal dominant keratitis [RCV000296937]|Congenital aniridia [RCV000268453]|Foveal hypoplasia 1 [RCV000321208]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000378162] Chr11:31784826 [GRCh38]
Chr11:31806374 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.-316-8C>G single nucleotide variant 11p partial monosomy syndrome [RCV000348840]|Aniridia 1 [RCV000279122]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000314007]|Anophthalmia-microphthalmia syndrome [RCV000336482]|Autosomal dominant keratitis [RCV000301090]|Foveal hypoplasia 1 [RCV000394796]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000394812] Chr11:31811023 [GRCh38]
Chr11:31832571 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*3509A>G single nucleotide variant 11p partial monosomy syndrome [RCV000267644]|Aniridia 1 [RCV000360034]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000263956]|Anophthalmia-microphthalmia syndrome [RCV000321448]|Autosomal dominant keratitis [RCV000291853]|Foveal hypoplasia 1 [RCV000325181]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000382078]|not provided [RCV001612959] Chr11:31787033 [GRCh38]
Chr11:31808581 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*3092T>C single nucleotide variant 11p partial monosomy syndrome [RCV000352015]|Aniridia 1 [RCV000334419]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000292478]|Anophthalmia-microphthalmia syndrome [RCV000279629]|Autosomal dominant keratitis [RCV000386924]|Foveal hypoplasia 1 [RCV000399967]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000327708] Chr11:31786616 [GRCh38]
Chr11:31808164 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*3425C>T single nucleotide variant 11p partial monosomy syndrome [RCV000261905]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000321786]|Anophthalmia-microphthalmia syndrome [RCV000260635]|Autosomal dominant keratitis [RCV000369362]|Congenital aniridia [RCV000376471]|Foveal hypoplasia 1 [RCV000375220]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000315850]|not provided [RCV001843508] Chr11:31786949 [GRCh38]
Chr11:31808497 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*3713A>T single nucleotide variant 11p partial monosomy syndrome [RCV000353194]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000318395]|Anophthalmia-microphthalmia syndrome [RCV000375323]|Autosomal dominant keratitis [RCV000321546]|Congenital aniridia [RCV000378379]|Foveal hypoplasia 1 [RCV000264021]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000260907] Chr11:31787237 [GRCh38]
Chr11:31808785 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*4251G>A single nucleotide variant 11p partial monosomy syndrome [RCV000401325]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000337321]|Anophthalmia-microphthalmia syndrome [RCV000350910]|Autosomal dominant keratitis [RCV000296038]|Congenital aniridia [RCV000347635]|Foveal hypoplasia 1 [RCV000311443]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000371876] Chr11:31787775 [GRCh38]
Chr11:31809323 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_019040.5(ELP4):c.*1714C>G single nucleotide variant 11p partial monosomy syndrome [RCV000335218]|Aniridia 1 [RCV000304821]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000402987]|Anophthalmia-microphthalmia syndrome [RCV000361151]|Autosomal dominant keratitis [RCV000264095]|Foveal hypoplasia 1 [RCV000301374]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000391974] Chr11:31785238 [GRCh38]
Chr11:31806786 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*4806T>A single nucleotide variant 11p partial monosomy syndrome [RCV000264355]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000362170]|Anophthalmia-microphthalmia syndrome [RCV000358805]|Autosomal dominant keratitis [RCV000303983]|Congenital aniridia [RCV000267544]|Foveal hypoplasia 1 [RCV000390212]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000307924] Chr11:31788330 [GRCh38]
Chr11:31809878 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) single nucleotide variant 11p partial monosomy syndrome [RCV000279921]|Aniridia 1 [RCV000281025]|Aniridia 1 [RCV000525722]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000379317]|Anophthalmia-microphthalmia syndrome [RCV000324755]|Autosomal dominant keratitis [RCV000316268]|Foveal hypoplasia 1 [RCV000264876]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000375488]|not provided [RCV001795924]|not specified [RCV000440184] Chr11:31801591 [GRCh38]
Chr11:31823139 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*5226T>A single nucleotide variant 11p partial monosomy syndrome [RCV000399005]|Aniridia 1 [RCV000286998]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000339784]|Anophthalmia-microphthalmia syndrome [RCV000280988]|Autosomal dominant keratitis [RCV000398435]|Foveal hypoplasia 1 [RCV000298746]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000338402]|not provided [RCV001642941] Chr11:31788750 [GRCh38]
Chr11:31810298 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.*841C>T single nucleotide variant 11p partial monosomy syndrome [RCV000293262]|Aniridia 1 [RCV000333079]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000372434]|Anophthalmia-microphthalmia syndrome [RCV000320109]|Autosomal dominant keratitis [RCV000350505]|Foveal hypoplasia 1 [RCV000261503]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000388786] Chr11:31789093 [GRCh38]
Chr11:31810641 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*2740G>A single nucleotide variant 11p partial monosomy syndrome [RCV000268116]|Aniridia 1 [RCV000321836]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000291530]|Anophthalmia-microphthalmia syndrome [RCV000358001]|Autosomal dominant keratitis [RCV000261986]|Foveal hypoplasia 1 [RCV000381254]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000323175]|not provided [RCV002510843] Chr11:31786264 [GRCh38]
Chr11:31807812 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*3242G>A single nucleotide variant 11p partial monosomy syndrome [RCV000373184]|Aniridia 1 [RCV000338913]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000374742]|Anophthalmia-microphthalmia syndrome [RCV000392251]|Autosomal dominant keratitis [RCV000279154]|Foveal hypoplasia 1 [RCV000285025]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000339849]|not provided [RCV002262957] Chr11:31786766 [GRCh38]
Chr11:31808314 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*3994C>A single nucleotide variant 11p partial monosomy syndrome [RCV000360468]|Aniridia 1 [RCV000265732]|Anophthalmia-microphthalmia syndrome [RCV000407121]|Autosomal dominant keratitis [RCV000305849]|Congenital aniridia [RCV000364054]|Foveal hypoplasia 1 [RCV000309419]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000407135]|not provided [RCV002244776] Chr11:31787518 [GRCh38]
Chr11:31809066 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.*356T>A single nucleotide variant 11p partial monosomy syndrome [RCV000397731]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000399607]|Anophthalmia-microphthalmia syndrome [RCV000340604]|Autosomal dominant keratitis [RCV000282065]|Congenital aniridia [RCV000283296]|Foveal hypoplasia 1 [RCV000313631]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000334653]|not provided [RCV003311743] Chr11:31789578 [GRCh38]
Chr11:31811126 [GRCh37]
Chr11:11p13		 benign|uncertain significance
NM_001368894.2(PAX6):c.*891G>A single nucleotide variant 11p partial monosomy syndrome [RCV000302550]|Aniridia 1 [RCV000268406]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000359529]|Anophthalmia-microphthalmia syndrome [RCV000402118]|Autosomal dominant keratitis [RCV000262557]|Foveal hypoplasia 1 [RCV000360559]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000308213] Chr11:31789043 [GRCh38]
Chr11:31810591 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*3904G>A single nucleotide variant 11p partial monosomy syndrome [RCV000393773]|Aniridia 1 [RCV000354753]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000358577]|Anophthalmia-microphthalmia syndrome [RCV000262281]|Autosomal dominant keratitis [RCV000351329]|Foveal hypoplasia 1 [RCV000297518]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000301027]|not provided [RCV003389781] Chr11:31787428 [GRCh38]
Chr11:31808976 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) single nucleotide variant 11p partial monosomy syndrome [RCV000299533]|Aniridia 1 [RCV000333506]|Aniridia 1 [RCV000865074]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000263284]|Anophthalmia-microphthalmia syndrome [RCV000353328]|Autosomal dominant keratitis [RCV000368216]|Foveal hypoplasia 1 [RCV000298558]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000273738]|not provided [RCV001683229] Chr11:31793737 [GRCh38]
Chr11:31815285 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*2040G>C single nucleotide variant 11p partial monosomy syndrome [RCV000370578]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000330932]|Anophthalmia-microphthalmia syndrome [RCV000372621]|Autosomal dominant keratitis [RCV000263019]|Congenital aniridia [RCV000315616]|Foveal hypoplasia 1 [RCV000273553]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000355481] Chr11:31785564 [GRCh38]
Chr11:31807112 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.*357A>T single nucleotide variant 11p partial monosomy syndrome [RCV000297659]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000356053]|Anophthalmia-microphthalmia syndrome [RCV000263589]|Autosomal dominant keratitis [RCV000329980]|Congenital aniridia [RCV000354835]|Foveal hypoplasia 1 [RCV000276474]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000303539] Chr11:31789577 [GRCh38]
Chr11:31811125 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3514_*3517dup duplication 11p partial monosomy syndrome [RCV000401427]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000387389]|Anophthalmia [RCV000352420]|Autosomal dominant keratitis [RCV000295258]|Congenital aniridia [RCV000330541]|Foveal hypoplasia 1 [RCV000279797]|Irido-corneo-trabecular dysgenesis [RCV000337230]|not provided [RCV001672446] Chr11:31787037..31787038 [GRCh38]
Chr11:31808585..31808586 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*2673_*2674del deletion 11p partial monosomy syndrome [RCV000391691]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000289781]|Anophthalmia [RCV000324796]|Autosomal dominant keratitis [RCV000288752]|Congenital aniridia [RCV000343770]|Foveal hypoplasia 1 [RCV000283615]|Irido-corneo-trabecular dysgenesis [RCV000379301]|not provided [RCV001539679] Chr11:31786197..31786198 [GRCh38]
Chr11:31807745..31807746 [GRCh37]
Chr11:11p13		 benign
NM_019040.5(ELP4):c.*2664G>A single nucleotide variant 11p partial monosomy syndrome [RCV000378193]|Aniridia 1 [RCV000371323]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000372529]|Anophthalmia-microphthalmia syndrome [RCV000319012]|Autosomal dominant keratitis [RCV000317915]|Foveal hypoplasia 1 [RCV000263779]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000276294] Chr11:31786188 [GRCh38]
Chr11:31807736 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_019040.5(ELP4):c.*3703_*3705del deletion 11p partial monosomy syndrome [RCV000280659]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000338068]|Anophthalmia [RCV000372839]|Autosomal dominant keratitis [RCV000402077]|Congenital aniridia [RCV000401024]|Foveal hypoplasia 1 [RCV000341992]|Irido-corneo-trabecular dysgenesis [RCV000284700] Chr11:31787227..31787229 [GRCh38]
Chr11:31808775..31808777 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3978T>C single nucleotide variant 11p partial monosomy syndrome [RCV000334355]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000400105]|Anophthalmia-microphthalmia syndrome [RCV000349502]|Autosomal dominant keratitis [RCV000387741]|Congenital aniridia [RCV000295766]|Foveal hypoplasia 1 [RCV000338007]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000280577] Chr11:31787502 [GRCh38]
Chr11:31809050 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) single nucleotide variant Aniridia 1 [RCV000496007]|Aniridia 1 [RCV000547174]|Aniridia 1 [RCV000762839]|PAX6-related disorder [RCV004545764]|not provided [RCV000272207] Chr11:31793787 [GRCh38]
Chr11:31815335 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.*183dup duplication 11p partial monosomy syndrome [RCV000259852]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000303579]|Anophthalmia [RCV000358490]|Autosomal dominant keratitis [RCV000401821]|Congenital aniridia [RCV000354831]|Foveal hypoplasia 1 [RCV000268454]|Irido-corneo-trabecular dysgenesis [RCV000304643] Chr11:31789750..31789751 [GRCh38]
Chr11:31811298..31811299 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-507T>C single nucleotide variant 11p partial monosomy syndrome [RCV000361678]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000263020]|Anophthalmia-microphthalmia syndrome [RCV000317592]|Autosomal dominant keratitis [RCV000304553]|Congenital aniridia [RCV000400591]|Foveal hypoplasia 1 [RCV000356027]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000259992] Chr11:31811305 [GRCh38]
Chr11:31832853 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2282G>A single nucleotide variant 11p partial monosomy syndrome [RCV000260177]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000268405]|Anophthalmia-microphthalmia syndrome [RCV000383156]|Autosomal dominant keratitis [RCV000317778]|Congenital aniridia [RCV000321612]|Foveal hypoplasia 1 [RCV000291188]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000360692] Chr11:31785806 [GRCh38]
Chr11:31807354 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3523del deletion 11p partial monosomy syndrome [RCV000302597]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000363009]|Anophthalmia [RCV000407420]|Autosomal dominant keratitis [RCV000305976]|Congenital aniridia [RCV000407418]|Foveal hypoplasia 1 [RCV000270919]|Irido-corneo-trabecular dysgenesis [RCV000359771] Chr11:31787047 [GRCh38]
Chr11:31808595 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.593del (p.Gly198fs) deletion not provided [RCV000291759] Chr11:31794761 [GRCh38]
Chr11:31816309 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1075-3C>G single nucleotide variant Aniridia 1 [RCV000984452]|not provided [RCV000273412] Chr11:31790863 [GRCh38]
Chr11:31812411 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_019040.5(ELP4):c.*4023C>A single nucleotide variant 11p partial monosomy syndrome [RCV000354896]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000333867]|Anophthalmia [RCV000300661]|Autosomal dominant keratitis [RCV000391332]|Congenital aniridia [RCV000304054]|Foveal hypoplasia 1 [RCV000358876]|Irido-corneo-trabecular dysgenesis [RCV000260069] Chr11:31787547 [GRCh38]
Chr11:31809095 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4889G>A single nucleotide variant 11p partial monosomy syndrome [RCV000374058]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000260716]|Anophthalmia-microphthalmia syndrome [RCV000295352]|Autosomal dominant keratitis [RCV000389641]|Congenital aniridia [RCV000319439]|Foveal hypoplasia 1 [RCV000331591]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000316416] Chr11:31788413 [GRCh38]
Chr11:31809961 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3504T>C single nucleotide variant 11p partial monosomy syndrome [RCV000299309]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000314745]|Anophthalmia-microphthalmia syndrome [RCV000393908]|Autosomal dominant keratitis [RCV000353270]|Congenital aniridia [RCV000349922]|Foveal hypoplasia 1 [RCV000260837]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000356446] Chr11:31787028 [GRCh38]
Chr11:31808576 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.524del (p.Gly175fs) deletion not provided [RCV000310498] Chr11:31800732 [GRCh38]
Chr11:31822280 [GRCh37]
Chr11:11p13		 pathogenic
NM_000280.4(PAX6):c.358delG deletion Aniridia 1 [RCV000555731]|not provided [RCV000315070] Chr11:31800856 [GRCh38]
Chr11:31822404 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.619A>G (p.Asn207Asp) single nucleotide variant not provided [RCV000311477] Chr11:31794735 [GRCh38]
Chr11:31816283 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) single nucleotide variant 11p partial monosomy syndrome [RCV000308509]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000273315]|Anophthalmia-microphthalmia syndrome [RCV000399419]|Autosomal dominant keratitis [RCV000370306]|Congenital aniridia [RCV000328376]|Foveal hypoplasia 1 [RCV000363235]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000359559] Chr11:31794765 [GRCh38]
Chr11:31816313 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) single nucleotide variant Aniridia 1 [RCV000635404]|PAX6-related disorder [RCV003401272]|not provided [RCV000317485] Chr11:31802793 [GRCh38]
Chr11:31824341 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.-147_-146dup duplication 11p partial monosomy syndrome [RCV000262940]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000297718]|Anophthalmia [RCV000333122]|Autosomal dominant keratitis [RCV000368036]|Congenital aniridia [RCV000275816]|Foveal hypoplasia 1 [RCV000311043]|Irido-corneo-trabecular dysgenesis [RCV000357286] Chr11:31810844..31810845 [GRCh38]
Chr11:31832392..31832393 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-59G>T single nucleotide variant 11p partial monosomy syndrome [RCV000316832]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000263207]|Anophthalmia-microphthalmia syndrome [RCV000266327]|Autosomal dominant keratitis [RCV000353414]|Congenital aniridia [RCV000361026]|Foveal hypoplasia 1 [RCV000301643]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000399524] Chr11:31806856 [GRCh38]
Chr11:31828404 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.275T>C (p.Val92Ala) single nucleotide variant not provided [RCV000284578] Chr11:31801685 [GRCh38]
Chr11:31823233 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4025C>G single nucleotide variant 11p partial monosomy syndrome [RCV000384842]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000275152]|Anophthalmia-microphthalmia syndrome [RCV000327107]|Autosomal dominant keratitis [RCV000330175]|Congenital aniridia [RCV000369876]|Foveal hypoplasia 1 [RCV000381755]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000290464] Chr11:31787549 [GRCh38]
Chr11:31809097 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.*107G>C single nucleotide variant 11p partial monosomy syndrome [RCV000374554]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000294817]|Anophthalmia-microphthalmia syndrome [RCV000345074]|Autosomal dominant keratitis [RCV000275361]|Congenital aniridia [RCV000330326]|Foveal hypoplasia 1 [RCV000389558]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000319669] Chr11:31789827 [GRCh38]
Chr11:31811375 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*5357A>G single nucleotide variant 11p partial monosomy syndrome [RCV000321837]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000379592]|Anophthalmia-microphthalmia syndrome [RCV000270395]|Autosomal dominant keratitis [RCV000374150]|Congenital aniridia [RCV000281996]|Foveal hypoplasia 1 [RCV000322584]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000264439] Chr11:31788881 [GRCh38]
Chr11:31810429 [GRCh37]
Chr11:11p13		 pathogenic|uncertain significance
NM_001368894.2(PAX6):c.413del (p.Asn138fs) deletion Aniridia 1 [RCV000496054]|not provided [RCV000366830] Chr11:31800843 [GRCh38]
Chr11:31822391 [GRCh37]
Chr11:11p13		 pathogenic
NM_019040.5(ELP4):c.*3920C>T single nucleotide variant 11p partial monosomy syndrome [RCV000292096]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000380672]|Anophthalmia-microphthalmia syndrome [RCV000327175]|Autosomal dominant keratitis [RCV000269812]|Congenital aniridia [RCV000384062]|Foveal hypoplasia 1 [RCV000266223]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000323647] Chr11:31787444 [GRCh38]
Chr11:31808992 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-430G>C single nucleotide variant 11p partial monosomy syndrome [RCV000323884]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000371409]|Anophthalmia-microphthalmia syndrome [RCV000337076]|Autosomal dominant keratitis [RCV000266405]|Congenital aniridia [RCV000279307]|Foveal hypoplasia 1 [RCV000375301]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000292666] Chr11:31811228 [GRCh38]
Chr11:31832776 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2407C>A single nucleotide variant 11p partial monosomy syndrome [RCV000403445]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000407623]|Anophthalmia-microphthalmia syndrome [RCV000297220]|Autosomal dominant keratitis [RCV000358057]|Congenital aniridia [RCV000266868]|Foveal hypoplasia 1 [RCV000305589]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000335913] Chr11:31785931 [GRCh38]
Chr11:31807479 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.121G>C (p.Asp41His) single nucleotide variant not provided [RCV000298226] Chr11:31802724 [GRCh38]
Chr11:31824272 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2502G>A single nucleotide variant 11p partial monosomy syndrome [RCV000280660]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000392365]|Anophthalmia-microphthalmia syndrome [RCV000387813]|Autosomal dominant keratitis [RCV000340296]|Congenital aniridia [RCV000279412]|Foveal hypoplasia 1 [RCV000375135]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000334496] Chr11:31786026 [GRCh38]
Chr11:31807574 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-368G>A single nucleotide variant 11p partial monosomy syndrome [RCV000272429]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000377350]|Anophthalmia-microphthalmia syndrome [RCV000370938]|Autosomal dominant keratitis [RCV000320445]|Congenital aniridia [RCV000269479]|Foveal hypoplasia 1 [RCV000308255]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000364742]|not provided [RCV001560157] Chr11:31811166 [GRCh38]
Chr11:31832714 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_001368894.2(PAX6):c.1308G>A (p.Gln436=) single nucleotide variant not provided [RCV001574298]|not specified [RCV001796913] Chr11:31789937 [GRCh38]
Chr11:31811485 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.512del (p.Gly171fs) deletion Aniridia 1 [RCV000554918] Chr11:31800744 [GRCh38]
Chr11:31822292 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.*207G>A single nucleotide variant 11p partial monosomy syndrome [RCV000351716]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000307259]|Anophthalmia-microphthalmia syndrome [RCV000292153]|Autosomal dominant keratitis [RCV000401650]|Congenital aniridia [RCV000366665]|Foveal hypoplasia 1 [RCV000336527]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000396936] Chr11:31789727 [GRCh38]
Chr11:31811275 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2334T>G single nucleotide variant 11p partial monosomy syndrome [RCV000385439]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000294730]|Anophthalmia-microphthalmia syndrome [RCV000351915]|Autosomal dominant keratitis [RCV000337027]|Congenital aniridia [RCV000325152]|Foveal hypoplasia 1 [RCV000293699]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000381848] Chr11:31785858 [GRCh38]
Chr11:31807406 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2049A>G single nucleotide variant 11p partial monosomy syndrome [RCV000323907]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000284918]|Anophthalmia-microphthalmia syndrome [RCV000285293]|Autosomal dominant keratitis [RCV000407285]|Congenital aniridia [RCV000346786]|Foveal hypoplasia 1 [RCV000377032]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000288491] Chr11:31785573 [GRCh38]
Chr11:31807121 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-501del deletion 11p partial monosomy syndrome [RCV000358202]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000310419]|Anophthalmia [RCV000296188]|Autosomal dominant keratitis [RCV000349942]|Congenital aniridia [RCV000397243]|Foveal hypoplasia 1 [RCV000397808]|Irido-corneo-trabecular dysgenesis [RCV000344079] Chr11:31811299 [GRCh38]
Chr11:31832847 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*5471T>C single nucleotide variant 11p partial monosomy syndrome [RCV000372909]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000401108]|Anophthalmia-microphthalmia syndrome [RCV000347675]|Autosomal dominant keratitis [RCV000334588]|Congenital aniridia [RCV000348998]|Foveal hypoplasia 1 [RCV000296426]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000309431] Chr11:31788995 [GRCh38]
Chr11:31810543 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.184-8C>T single nucleotide variant 11p partial monosomy syndrome [RCV000350255]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000396789]|Anophthalmia-microphthalmia syndrome [RCV000351386]|Autosomal dominant keratitis [RCV000296532]|Congenital aniridia [RCV000310071]|Foveal hypoplasia 1 [RCV000364779]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000396785] Chr11:31801784 [GRCh38]
Chr11:31823332 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2710CA[2] microsatellite 11p partial monosomy syndrome [RCV000356776]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000314581]|Anophthalmia [RCV000406035]|Autosomal dominant keratitis [RCV000297149]|Congenital aniridia [RCV000391676]|Foveal hypoplasia 1 [RCV000349666]|Irido-corneo-trabecular dysgenesis [RCV000369302] Chr11:31786233..31786234 [GRCh38]
Chr11:31807781..31807782 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3859G>A single nucleotide variant 11p partial monosomy syndrome [RCV000382003]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000290011]|Anophthalmia [RCV000286354]|Autosomal dominant keratitis [RCV000312885]|Congenital aniridia [RCV000343782]|Foveal hypoplasia 1 [RCV000347340]|Irido-corneo-trabecular dysgenesis [RCV000398585] Chr11:31787383 [GRCh38]
Chr11:31808931 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4017A>G single nucleotide variant 11p partial monosomy syndrome [RCV000292600]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000347571]|Anophthalmia-microphthalmia syndrome [RCV000390045]|Autosomal dominant keratitis [RCV000386979]|Congenital aniridia [RCV000401196]|Foveal hypoplasia 1 [RCV000288625]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV000343698] Chr11:31787541 [GRCh38]
Chr11:31809089 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG indel 11p partial monosomy syndrome [RCV000389401]|Aniridia, Cerebellar Ataxia, And Intellectual Disability [RCV000292766]|Anophthalmia [RCV000351665]|Autosomal dominant keratitis [RCV000289761]|Congenital aniridia [RCV000329484]|Foveal hypoplasia 1 [RCV000381819]|Irido-corneo-trabecular dysgenesis [RCV000350075] Chr11:31785013..31785015 [GRCh38]
Chr11:31806561..31806563 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter) single nucleotide variant Aniridia 1 [RCV000584828]|Aniridia 1 [RCV000635400] Chr11:31801593 [GRCh38]
Chr11:31823141 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.141+1G>A single nucleotide variant Aniridia 1 [RCV002531115]|not provided [RCV000598846] Chr11:31802703 [GRCh38]
Chr11:31824251 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.280_283dup (p.Pro95fs) duplication Aniridia 1 [RCV000584797] Chr11:31801676..31801677 [GRCh38]
Chr11:31823224..31823225 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1225+1G>A single nucleotide variant Aniridia 1 [RCV000584805] Chr11:31790709 [GRCh38]
Chr11:31812257 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.321del (p.Glu107fs) deletion not provided [RCV000598851] Chr11:31801639 [GRCh38]
Chr11:31823187 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.188C>A (p.Ser63Tyr) single nucleotide variant not provided [RCV000523067] Chr11:31801772 [GRCh38]
Chr11:31823320 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.997G>A (p.Asp333Asn) single nucleotide variant not provided [RCV000593006] Chr11:31793515 [GRCh38]
Chr11:31815063 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1085_1095del (p.Pro362fs) deletion not provided [RCV000627563] Chr11:31790840..31790850 [GRCh38]
Chr11:31812388..31812398 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.994del (p.Thr332fs) deletion not provided [RCV000591275] Chr11:31793518 [GRCh38]
Chr11:31815066 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.958+1G>C single nucleotide variant Aniridia 1 [RCV000984443]|not provided [RCV000414749] Chr11:31793651 [GRCh38]
Chr11:31815199 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.-129+1G>A single nucleotide variant Aniridia 1 [RCV000757884]|PAX6-related disorder [RCV004535691] Chr11:31810827 [GRCh38]
Chr11:31832375 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.399+136G>A single nucleotide variant Aniridia 1 [RCV000757889] Chr11:31801425 [GRCh38]
Chr11:31822973 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.714C>T (p.Ala238=) single nucleotide variant Aniridia 1 [RCV000558087] Chr11:31794640 [GRCh38]
Chr11:31816188 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs) deletion Aniridia 1 [RCV000541782] Chr11:31789982..31789988 [GRCh38]
Chr11:31811530..31811536 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.109dup (p.Ala37fs) duplication Aniridia 1 [RCV000496062]|not provided [RCV000413008] Chr11:31802735..31802736 [GRCh38]
Chr11:31824283..31824284 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.959-9T>A single nucleotide variant not provided [RCV000413082] Chr11:31793562 [GRCh38]
Chr11:31815110 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.141+2T>G single nucleotide variant not provided [RCV000413692] Chr11:31802702 [GRCh38]
Chr11:31824250 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) single nucleotide variant Aniridia 1 [RCV000984424]|Aniridia 1 [RCV001388984]|Foveal hypoplasia 1 [RCV002463362]|PAX6-related disorder [RCV004529567]|not provided [RCV000413794] Chr11:31794690 [GRCh38]
Chr11:31816238 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter) single nucleotide variant Aniridia 1 [RCV000557326]|Aniridia 1 [RCV000984450]|not provided [RCV000413962] Chr11:31793521 [GRCh38]
Chr11:31815069 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.109del (p.Ala37fs) deletion Aniridia 1 [RCV001215069]|not provided [RCV000414410] Chr11:31802736 [GRCh38]
Chr11:31824284 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p13(chr11:31210842-35436121)x1 copy number loss See cases [RCV000446864] Chr11:31210842..35436121 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p13(chr11:31760458-31823847)x1 copy number loss Aniridia 1 [RCV000437994] Chr11:31760458..31823847 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter) single nucleotide variant Aniridia 1 [RCV001036942]|not provided [RCV000419144] Chr11:31800728 [GRCh38]
Chr11:31822276 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 copy number loss Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400] Chr11:21586131..33168232 [GRCh37]
Chr11:11p15.1-13		 pathogenic
NM_001368894.2(PAX6):c.959-3C>G single nucleotide variant Aniridia 1 [RCV001865384]|not provided [RCV000423209] Chr11:31793556 [GRCh38]
Chr11:31815104 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
GRCh37/hg19 11p13(chr11:31820789-31824052)x1 copy number loss Aniridia 1 [RCV000426456] Chr11:31820789..31824052 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 copy number loss See cases [RCV000445800] Chr11:29238811..45494063 [GRCh37]
Chr11:11p14.1-11.2		 pathogenic
NM_001368894.2(PAX6):c.1226-2A>G single nucleotide variant not provided [RCV000436289] Chr11:31790021 [GRCh38]
Chr11:31811569 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1 copy number loss 11p partial monosomy syndrome [RCV000433834] Chr11:29750813..32752091 [GRCh37]
Chr11:11p14.1-13		 pathogenic
GRCh37/hg19 11p14.1-13(chr11:27895487-34494489)x1 copy number loss See cases [RCV000448524] Chr11:27895487..34494489 [GRCh37]
Chr11:11p14.1-13		 pathogenic
GRCh37/hg19 11p13(chr11:31828509-34576695)x1 copy number loss See cases [RCV000448824] Chr11:31828509..34576695 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
NM_001368894.2(PAX6):c.399+2dup duplication not provided [RCV000484622] Chr11:31801558..31801559 [GRCh38]
Chr11:31823106..31823107 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.297C>T (p.Ser99=) single nucleotide variant Aniridia 1 [RCV000984389]|not provided [RCV000485756] Chr11:31801663 [GRCh38]
Chr11:31823211 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.142-52del deletion not specified [RCV000482347] Chr11:31801964 [GRCh38]
Chr11:31823512 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p13(chr11:31772519-31828512)x3 copy number gain See cases [RCV000510476] Chr11:31772519..31828512 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.808-2A>C single nucleotide variant not provided [RCV000509551] Chr11:31793804 [GRCh38]
Chr11:31815352 [GRCh37]
Chr11:11p13		 pathogenic|not provided
NM_001368894.2(PAX6):c.1078C>G (p.Pro360Ala) single nucleotide variant not provided [RCV000498109] Chr11:31790857 [GRCh38]
Chr11:31812405 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1 copy number loss See cases [RCV000512014] Chr11:25771208..35614978 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001368894.2(PAX6):c.1266C>G (p.Pro422=) single nucleotide variant Aniridia 1 [RCV000505629] Chr11:31789979 [GRCh38]
Chr11:31811527 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.141+1G>C single nucleotide variant Aniridia 1 [RCV000505672]|not provided [RCV003886404] Chr11:31802703 [GRCh38]
Chr11:31824251 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
NM_001368894.2(PAX6):c.201_204del (p.Ser68fs) deletion not provided [RCV000494646] Chr11:31801756..31801759 [GRCh38]
Chr11:31823304..31823307 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.958+2T>C single nucleotide variant not provided [RCV000494686] Chr11:31793650 [GRCh38]
Chr11:31815198 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1 copy number loss See cases [RCV000511434] Chr11:27588560..41770792 [GRCh37]
Chr11:11p14.1-12		 pathogenic|uncertain significance
NM_001368894.2(PAX6):c.1081del (p.Val361fs) deletion not provided [RCV000493192] Chr11:31790854 [GRCh38]
Chr11:31812402 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter) single nucleotide variant Aniridia 1 [RCV000495982]|Aniridia 1 [RCV003766788]|not provided [RCV000627252] Chr11:31793774 [GRCh38]
Chr11:31815322 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.399C>G (p.Ser133Arg) single nucleotide variant Aniridia 1 [RCV000495984] Chr11:31801561 [GRCh38]
Chr11:31823109 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1089_1092del (p.Ser363fs) microsatellite Aniridia 1 [RCV000495987] Chr11:31790843..31790846 [GRCh38]
Chr11:31812391..31812394 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter) single nucleotide variant Aniridia 1 [RCV000495990]|Aniridia 1 [RCV001865557] Chr11:31801653 [GRCh38]
Chr11:31823201 [GRCh37]
Chr11:11p13		 pathogenic
NM_000280.4(PAX6):c.-125dup duplication Aniridia 1 [RCV000495993]|not specified [RCV000615408] Chr11:31806921..31806922 [GRCh38]
Chr11:31828469..31828470 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_001368894.2(PAX6):c.342G>A (p.Trp114Ter) single nucleotide variant Aniridia 1 [RCV000495994]|not provided [RCV001269618] Chr11:31801618 [GRCh38]
Chr11:31823166 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.802del (p.Ile268fs) deletion Aniridia 1 [RCV000495995] Chr11:31794037 [GRCh38]
Chr11:31815585 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.140A>G (p.Gln47Arg) single nucleotide variant Aniridia 1 [RCV000495996] Chr11:31802705 [GRCh38]
Chr11:31824253 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.509G>A (p.Trp170Ter) single nucleotide variant Aniridia 1 [RCV000495997] Chr11:31800747 [GRCh38]
Chr11:31822295 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.443del (p.Lys148fs) deletion Aniridia 1 [RCV000495998] Chr11:31800813 [GRCh38]
Chr11:31822361 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.125_126delinsC (p.Ile42fs) indel Aniridia 1 [RCV000496003] Chr11:31802719..31802720 [GRCh38]
Chr11:31824267..31824268 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.19G>C (p.Gly7Arg) single nucleotide variant Aniridia 1 [RCV000496005] Chr11:31802826 [GRCh38]
Chr11:31824374 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.184-5T>G single nucleotide variant Aniridia 1 [RCV000496014]|Aniridia 1 [RCV003766787] Chr11:31801781 [GRCh38]
Chr11:31823329 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.226G>T (p.Glu76Ter) single nucleotide variant Aniridia 1 [RCV000496016] Chr11:31801734 [GRCh38]
Chr11:31823282 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.333_336dup (p.Ala113fs) duplication Aniridia 1 [RCV000496017] Chr11:31801623..31801624 [GRCh38]
Chr11:31823171..31823172 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.724+4del deletion Aniridia 1 [RCV000496019] Chr11:31794626 [GRCh38]
Chr11:31816174 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.409_415del (p.Ile137fs) deletion Aniridia 1 [RCV000496020] Chr11:31800841..31800847 [GRCh38]
Chr11:31822389..31822395 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.921del (p.Ser308fs) deletion Aniridia 1 [RCV000496021] Chr11:31793689 [GRCh38]
Chr11:31815237 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1225G>T (p.Gly409Ter) single nucleotide variant Aniridia 1 [RCV000496022] Chr11:31790710 [GRCh38]
Chr11:31812258 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1A>G (p.Met1Val) single nucleotide variant Aniridia 1 [RCV000496024]|Irido-corneo-trabecular dysgenesis [RCV003488635] Chr11:31806411 [GRCh38]
Chr11:31827959 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.78del (p.Gln27fs) deletion Aniridia 1 [RCV000496029]|Aniridia 1 [RCV000804957] Chr11:31802767 [GRCh38]
Chr11:31824315 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.141+4A>G single nucleotide variant Aniridia 1 [RCV000496031] Chr11:31802700 [GRCh38]
Chr11:31824248 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.130C>T (p.Arg44Ter) single nucleotide variant Aniridia 1 [RCV000496034] Chr11:31802715 [GRCh38]
Chr11:31824263 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg) single nucleotide variant Aniridia 1 [RCV000496035]|not provided [RCV000657914] Chr11:31801767 [GRCh38]
Chr11:31823315 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter) single nucleotide variant Aniridia 1 [RCV000496038]|Aniridia 1 [RCV000699145] Chr11:31800811 [GRCh38]
Chr11:31822359 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter) single nucleotide variant Aniridia 1 [RCV000496039]|Aniridia 1 [RCV002527124] Chr11:31794651 [GRCh38]
Chr11:31816199 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.533del (p.Pro178fs) deletion Aniridia 1 [RCV000496040] Chr11:31800723 [GRCh38]
Chr11:31822271 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.834dup (p.Trp279fs) duplication Aniridia 1 [RCV000496046] Chr11:31793775..31793776 [GRCh38]
Chr11:31815323..31815324 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.-128-2del deletion Aniridia 1 [RCV000496050]|Aniridia 1 [RCV001851364] Chr11:31806927 [GRCh38]
Chr11:31828475 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.286G>T (p.Glu96Ter) single nucleotide variant Aniridia 1 [RCV000496051] Chr11:31801674 [GRCh38]
Chr11:31823222 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.335_340delinsGTTCA (p.Phe112fs) indel Aniridia 1 [RCV000496053] Chr11:31801620..31801625 [GRCh38]
Chr11:31823168..31823173 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.395del (p.Pro132fs) deletion Aniridia 1 [RCV000496055] Chr11:31801565 [GRCh38]
Chr11:31823113 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.133_141+4del deletion Aniridia 1 [RCV000496056] Chr11:31802700..31802712 [GRCh38]
Chr11:31824248..31824260 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.491_495delinsCCGGAAC (p.Asn164fs) indel Aniridia 1 [RCV000496057] Chr11:31800761..31800765 [GRCh38]
Chr11:31822309..31822313 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1225+2T>C single nucleotide variant Aniridia 1 [RCV000496058] Chr11:31790708 [GRCh38]
Chr11:31812256 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1074+6T>G single nucleotide variant Aniridia 1 [RCV000496059] Chr11:31793432 [GRCh38]
Chr11:31814980 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.1A>C (p.Met1Leu) single nucleotide variant Aniridia 1 [RCV000496060]|Aniridia 1 [RCV000635401] Chr11:31806411 [GRCh38]
Chr11:31827959 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.206A>C (p.Lys69Thr) single nucleotide variant Aniridia 1 [RCV000496066] Chr11:31801754 [GRCh38]
Chr11:31823302 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.725-1G>C single nucleotide variant Aniridia 1 [RCV000496074] Chr11:31794115 [GRCh38]
Chr11:31815663 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.184-14C>G single nucleotide variant Aniridia 1 [RCV000496075] Chr11:31801790 [GRCh38]
Chr11:31823338 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter) single nucleotide variant Aniridia 1 [RCV000496078]|Aniridia 1 [RCV000635403] Chr11:31800703 [GRCh38]
Chr11:31822251 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter) single nucleotide variant Aniridia 1 [RCV000584784]|Aniridia 1 [RCV001853950] Chr11:31793748 [GRCh38]
Chr11:31815296 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter) single nucleotide variant Aniridia 1 [RCV000584776]|Aniridia 1 [RCV002530828] Chr11:31794774 [GRCh38]
Chr11:31816322 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter) single nucleotide variant Aniridia 1 [RCV003767251]|not provided [RCV000579376] Chr11:31800849 [GRCh38]
Chr11:31822397 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.1023C>T (p.Ser341=) single nucleotide variant Aniridia 1 [RCV002060303] Chr11:31793489 [GRCh38]
Chr11:31815037 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.131G>C (p.Arg44Pro) single nucleotide variant Developmental cataract [RCV000603782] Chr11:31802714 [GRCh38]
Chr11:31824262 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.399+4A>T single nucleotide variant Aniridia 1 [RCV000541017] Chr11:31801557 [GRCh38]
Chr11:31823105 [GRCh37]
Chr11:11p13		 pathogenic|uncertain significance
NM_001368894.2(PAX6):c.-117dup duplication not specified [RCV000612866] Chr11:31806913..31806914 [GRCh38]
Chr11:31828461..31828462 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.537del (p.Thr180fs) deletion Aniridia 1 [RCV000533224]|Aniridia 1 [RCV000984417] Chr11:31800719 [GRCh38]
Chr11:31822267 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.578_579insC (p.Gln193fs) insertion Aniridia 1 [RCV000635402] Chr11:31794775..31794776 [GRCh38]
Chr11:31816323..31816324 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter) single nucleotide variant Aniridia 1 [RCV000635405] Chr11:31802706 [GRCh38]
Chr11:31824254 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.10:g.(?_31789914)_(31794829_?)del deletion Aniridia 1 [RCV000635406] Chr11:31789914..31794829 [GRCh38]
Chr11:31811462..31816377 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.10:g.(?_31789914)_(31790880_?)del deletion Aniridia 1 [RCV000635407] Chr11:31789914..31790880 [GRCh38]
Chr11:31811462..31812428 [GRCh37]
Chr11:11p13		 likely pathogenic
NC_000011.10:g.(?_31789934)_(31806411_?)del deletion Aniridia 1 [RCV000635408] Chr11:31789934..31806411 [GRCh38]
Chr11:31811482..31827959 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter) single nucleotide variant Aniridia 1 [RCV000984460]|Aniridia 1 [RCV003767898]|not provided [RCV000658590] Chr11:31790805 [GRCh38]
Chr11:31812353 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_000280.4:c.1267A>T single nucleotide variant Isolated optic nerve hypoplasia [RCV000677263] Chr11:11p13 likely pathogenic
NM_001368894.2(PAX6):c.341G>A (p.Trp114Ter) single nucleotide variant Aniridia 1 [RCV000677120] Chr11:31801619 [GRCh38]
Chr11:31823167 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1 copy number loss not provided [RCV000683364] Chr11:29883001..33865721 [GRCh37]
Chr11:11p14.1-13		 pathogenic
NM_001604.5:c.(10+1_11-1)_(1311_?)del deletion Aniridia [RCV000678591] Chr11:11p13 pathogenic
NM_001368894.2(PAX6):c.114dup (p.Pro39fs) duplication Aniridia 1 [RCV000687949]|Aniridia 1 [RCV000984367] Chr11:31802730..31802731 [GRCh38]
Chr11:31824278..31824279 [GRCh37]
Chr11:11p13		 pathogenic
NM_001604.5(PAX6):c.(10+1_11-1)_(1311_?)del deletion Congenital aniridia [RCV000678591] Chr11:31789934..31802835 [GRCh38]
Chr11:31811482..31824383 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.262A>T (p.Ser88Cys) single nucleotide variant Aniridia 1 [RCV000701300] Chr11:31801698 [GRCh38]
Chr11:31823246 [GRCh37]
Chr11:11p13		 uncertain significance
NC_000011.9:g.(?_31284590)_(32456911_?)del deletion Aniridia 1 [RCV000708019]|Drash syndrome [RCV001386651] Chr11:31284590..32456911 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.10:g.(?_31664397)_(31794829_?)del deletion Aniridia 1 [RCV000708402] Chr11:31664397..31794829 [GRCh38]
Chr11:31685945..31816377 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg) single nucleotide variant Aniridia 1 [RCV000701816]|Aniridia 1 [RCV000984353] Chr11:31802811 [GRCh38]
Chr11:31824359 [GRCh37]
Chr11:11p13		 pathogenic|uncertain significance
NM_001368894.2(PAX6):c.574C>T (p.Gln192Ter) single nucleotide variant Congenital aniridia [RCV000709795] Chr11:31794780 [GRCh38]
Chr11:31816328 [GRCh37]
Chr11:11p13		 not provided
NM_001368894.2(PAX6):c.102_106delinsAACC (p.His34fs) indel Aniridia 1 [RCV000685643] Chr11:31802739..31802743 [GRCh38]
Chr11:31824287..31824291 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.-52+3_-52+4del deletion Aniridia 1 [RCV000757886] Chr11:31806845..31806846 [GRCh38]
Chr11:31828393..31828394 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.-52+3_-52+6delinsTG indel Aniridia 1 [RCV000757887] Chr11:31806843..31806846 [GRCh38]
Chr11:31828391..31828394 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001368894.2(PAX6):c.-118_-117del deletion Aniridia 1 [RCV000757885]|Aniridia 1 [RCV001855622] Chr11:31806914..31806915 [GRCh38]
Chr11:31828462..31828463 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1 copy number loss not provided [RCV000737457] Chr11:24469451..37524085 [GRCh37]
Chr11:11p14.3-12		 pathogenic
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1 copy number loss not provided [RCV000737466] Chr11:25196998..34196484 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p14.2-13(chr11:27154853-33302474)x1 copy number loss not provided [RCV000749997] Chr11:27154853..33302474 [GRCh37]
Chr11:11p14.2-13		 pathogenic
NM_001368894.2(PAX6):c.808-1G>T single nucleotide variant not provided [RCV001541385] Chr11:31793803 [GRCh38]
Chr11:31815351 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.958+33T>A single nucleotide variant not provided [RCV001646075] Chr11:31793619 [GRCh38]
Chr11:31815167 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?) duplication Aniridia 1 [RCV000853307] Chr11:31789935..31789936 [GRCh38]
Chr11:31811483..31811484 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.399+334G>A single nucleotide variant Aniridia 1 [RCV000757890] Chr11:31801227 [GRCh38]
Chr11:31822775 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.566-161G>A single nucleotide variant not provided [RCV001725413] Chr11:31794949 [GRCh38]
Chr11:31816497 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) single nucleotide variant Aniridia 1 [RCV002061032]|Anophthalmia-microphthalmia syndrome [RCV001103483]|Autosomal dominant keratitis [RCV001103482]|Foveal hypoplasia 1 [RCV001103480]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103481]|not provided [RCV000761769] Chr11:31793527 [GRCh38]
Chr11:31815075 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_001368894.2(PAX6):c.-52+5del deletion Aniridia 1 [RCV000757888] Chr11:31806844 [GRCh38]
Chr11:31828392 [GRCh37]
Chr11:11p13		 pathogenic
NM_000280.4(PAX6):c.-7421C>T single nucleotide variant Aniridia 1 [RCV000757891] Chr11:31818219 [GRCh38]
Chr11:31839767 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.347T>A (p.Ile116Asn) single nucleotide variant Aniridia 1 [RCV000754778] Chr11:31801613 [GRCh38]
Chr11:31823161 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.142-142dup duplication not provided [RCV001567545] Chr11:31802053..31802054 [GRCh38]
Chr11:31823601..31823602 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.-129+229G>C single nucleotide variant not provided [RCV001585600] Chr11:31810599 [GRCh38]
Chr11:31832147 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.702G>A (p.Glu234=) single nucleotide variant Aniridia 1 [RCV001448810] Chr11:31794652 [GRCh38]
Chr11:31816200 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.11-2A>G single nucleotide variant Aniridia 1 [RCV000984351] Chr11:31802836 [GRCh38]
Chr11:31824384 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.19G>T (p.Gly7Ter) single nucleotide variant Aniridia 1 [RCV000984352] Chr11:31802826 [GRCh38]
Chr11:31824374 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala) single nucleotide variant Aniridia 1 [RCV000984356] Chr11:31802792 [GRCh38]
Chr11:31824340 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.62del (p.Leu21fs) deletion Aniridia 1 [RCV000984357] Chr11:31802783 [GRCh38]
Chr11:31824331 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.66_75del (p.Asp23fs) deletion Aniridia 1 [RCV000984358] Chr11:31802770..31802779 [GRCh38]
Chr11:31824318..31824327 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp) single nucleotide variant Aniridia 1 [RCV000984359]|Aniridia 1 [RCV002550582]|Irido-corneo-trabecular dysgenesis [RCV003489985] Chr11:31802769 [GRCh38]
Chr11:31824317 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.94C>G (p.Leu32Val) single nucleotide variant Aniridia 1 [RCV000984360] Chr11:31802751 [GRCh38]
Chr11:31824299 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.107_114dup (p.Pro39fs) duplication Aniridia 1 [RCV000984361] Chr11:31802730..31802731 [GRCh38]
Chr11:31824278..31824279 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.107G>A (p.Gly36Glu) single nucleotide variant Aniridia 1 [RCV000984362] Chr11:31802738 [GRCh38]
Chr11:31824286 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.107G>T (p.Gly36Val) single nucleotide variant Aniridia 1 [RCV000984363] Chr11:31802738 [GRCh38]
Chr11:31824286 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.113_114dup (p.Pro39fs) duplication Aniridia 1 [RCV000984365] Chr11:31802730..31802731 [GRCh38]
Chr11:31824278..31824279 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.114_131del (p.Pro39_Arg44del) deletion Aniridia 1 [RCV000984366] Chr11:31802714..31802731 [GRCh38]
Chr11:31824262..31824279 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.115_116dup (p.Cys40fs) duplication Aniridia 1 [RCV000984368]|Aniridia 1 [RCV002549622] Chr11:31802728..31802729 [GRCh38]
Chr11:31824276..31824277 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe) single nucleotide variant Aniridia 1 [RCV000984371]|Aniridia 1 [RCV001058452] Chr11:31802717 [GRCh38]
Chr11:31824265 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.140A>C (p.Gln47Pro) single nucleotide variant Aniridia 1 [RCV000984372] Chr11:31802705 [GRCh38]
Chr11:31824253 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.141+4A>T single nucleotide variant Aniridia 1 [RCV000984373] Chr11:31802700 [GRCh38]
Chr11:31824248 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.184-1G>A single nucleotide variant Aniridia 1 [RCV000984374] Chr11:31801777 [GRCh38]
Chr11:31823325 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.184-1_195dup duplication Aniridia 1 [RCV000984375] Chr11:31801764..31801765 [GRCh38]
Chr11:31823312..31823313 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.184-2A>G single nucleotide variant Aniridia 1 [RCV000984376] Chr11:31801778 [GRCh38]
Chr11:31823326 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.208del (p.Ile70fs) deletion Aniridia 1 [RCV000984380] Chr11:31801752 [GRCh38]
Chr11:31823300 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.212T>C (p.Leu71Pro) single nucleotide variant Aniridia 1 [RCV000984381] Chr11:31801748 [GRCh38]
Chr11:31823296 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.216C>T (p.Gly72=) single nucleotide variant Aniridia 1 [RCV000984382]|not provided [RCV002225771] Chr11:31801744 [GRCh38]
Chr11:31823292 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.225C>G (p.Tyr75Ter) single nucleotide variant Aniridia 1 [RCV000984383] Chr11:31801735 [GRCh38]
Chr11:31823283 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.246dup (p.Arg83fs) duplication Aniridia 1 [RCV000984385] Chr11:31801713..31801714 [GRCh38]
Chr11:31823261..31823262 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer) deletion Aniridia 1 [RCV000984390]|not provided [RCV001805951] Chr11:31801659 [GRCh38]
Chr11:31823207 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.317G>C (p.Arg106Pro) single nucleotide variant Aniridia 1 [RCV000984391] Chr11:31801643 [GRCh38]
Chr11:31823191 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.323del (p.Cys108fs) deletion Aniridia 1 [RCV000984392] Chr11:31801637 [GRCh38]
Chr11:31823185 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.328_337del (p.Ser110fs) deletion Aniridia 1 [RCV000984393] Chr11:31801623..31801632 [GRCh38]
Chr11:31823171..31823180 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.367_368delinsCAG (p.Glu123fs) indel Aniridia 1 [RCV000984394] Chr11:31801592..31801593 [GRCh38]
Chr11:31823140..31823141 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.373dup (p.Val125fs) duplication Aniridia 1 [RCV000984398]|Aniridia 1 [RCV002550583] Chr11:31801586..31801587 [GRCh38]
Chr11:31823134..31823135 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.375C>A (p.Val125=) single nucleotide variant Aniridia 1 [RCV000984399] Chr11:31801585 [GRCh38]
Chr11:31823133 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_000280.4(PAX6):c.345_351del (p.Asn116fs) deletion Aniridia 1 [RCV000984400] Chr11:31801567..31801573 [GRCh38]
Chr11:31823115..31823121 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del) deletion Aniridia 1 [RCV000984401] Chr11:31801561..31801569 [GRCh38]
Chr11:31823109..31823117 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.399_399+5del deletion Aniridia 1 [RCV000984402] Chr11:31801556..31801561 [GRCh38]
Chr11:31823104..31823109 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.399+5G>A single nucleotide variant Aniridia 1 [RCV000984404]|Irido-corneo-trabecular dysgenesis [RCV003152740] Chr11:31801556 [GRCh38]
Chr11:31823104 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.400-2A>G single nucleotide variant Aniridia 1 [RCV000984405] Chr11:31800858 [GRCh38]
Chr11:31822406 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.400-1G>A single nucleotide variant Aniridia 1 [RCV000984406] Chr11:31800857 [GRCh38]
Chr11:31822405 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.407C>G (p.Ser136Ter) single nucleotide variant Aniridia 1 [RCV000984407] Chr11:31800849 [GRCh38]
Chr11:31822397 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.415dup (p.Arg139fs) duplication Aniridia 1 [RCV000984408] Chr11:31800840..31800841 [GRCh38]
Chr11:31822388..31822389 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.417_418del (p.Arg139fs) microsatellite Aniridia 1 [RCV000984409]|Aniridia 1 [RCV002549624] Chr11:31800838..31800839 [GRCh38]
Chr11:31822386..31822387 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.425G>A (p.Arg142His) single nucleotide variant Aniridia 1 [RCV000984411] Chr11:31800831 [GRCh38]
Chr11:31822379 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu) single nucleotide variant Aniridia 1 [RCV000984412]|not provided [RCV001091518] Chr11:31800831 [GRCh38]
Chr11:31822379 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.517del (p.Arg173fs) deletion Aniridia 1 [RCV000984415] Chr11:31800739 [GRCh38]
Chr11:31822287 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter) single nucleotide variant Aniridia 1 [RCV000984416]|not provided [RCV003106085] Chr11:31800725 [GRCh38]
Chr11:31822273 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.542C>A (p.Ser181Ter) single nucleotide variant Aniridia 1 [RCV000984418] Chr11:31800714 [GRCh38]
Chr11:31822262 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.566-14_567del deletion Aniridia 1 [RCV000984419] Chr11:31794787..31794802 [GRCh38]
Chr11:31816335..31816350 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.566-2A>G single nucleotide variant Aniridia 1 [RCV000984420] Chr11:31794790 [GRCh38]
Chr11:31816338 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.566-1G>A single nucleotide variant Aniridia 1 [RCV000984421] Chr11:31794789 [GRCh38]
Chr11:31816337 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.569del (p.Gly190fs) deletion Aniridia 1 [RCV000984422] Chr11:31794785 [GRCh38]
Chr11:31816333 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.677_680del (p.Arg226fs) deletion Aniridia 1 [RCV000984425] Chr11:31794674..31794677 [GRCh38]
Chr11:31816222..31816225 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.682A>G (p.Arg228Gly) single nucleotide variant Aniridia 1 [RCV000984426] Chr11:31794672 [GRCh38]
Chr11:31816220 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.723A>G (p.Lys241=) single nucleotide variant Aniridia 1 [RCV000984427] Chr11:31794631 [GRCh38]
Chr11:31816179 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.725-9C>G single nucleotide variant Aniridia 1 [RCV000984428] Chr11:31794123 [GRCh38]
Chr11:31815671 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.725-5T>C single nucleotide variant Aniridia 1 [RCV000984429] Chr11:31794119 [GRCh38]
Chr11:31815667 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.753_754del (p.Phe252fs) microsatellite Aniridia 1 [RCV000984430]|not provided [RCV002462242] Chr11:31794085..31794086 [GRCh38]
Chr11:31815633..31815634 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.807G>C (p.Gln269His) single nucleotide variant Aniridia 1 [RCV000984431] Chr11:31794032 [GRCh38]
Chr11:31815580 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.808-1G>C single nucleotide variant Aniridia 1 [RCV000984432]|Aniridia 1 [RCV001056174] Chr11:31793803 [GRCh38]
Chr11:31815351 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.808-1G>A single nucleotide variant Aniridia 1 [RCV000984433] Chr11:31793803 [GRCh38]
Chr11:31815351 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter) single nucleotide variant Aniridia 1 [RCV000984434]|Aniridia 1 [RCV003769284] Chr11:31793798 [GRCh38]
Chr11:31815346 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.834del (p.Lys278fs) deletion Aniridia 1 [RCV000984436] Chr11:31793776 [GRCh38]
Chr11:31815324 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1058_1061del (p.Asn353fs) deletion Aniridia 1 [RCV000984446] Chr11:31793451..31793454 [GRCh38]
Chr11:31814999..31815002 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.959-1G>A single nucleotide variant Aniridia 1 [RCV000984447]|Aniridia 1 [RCV002549625]|not provided [RCV003325529] Chr11:31793554 [GRCh38]
Chr11:31815102 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.959-1G>C single nucleotide variant Aniridia 1 [RCV000984448] Chr11:31793554 [GRCh38]
Chr11:31815102 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.967_968del (p.Phe323fs) deletion Aniridia 1 [RCV000984449] Chr11:31793544..31793545 [GRCh38]
Chr11:31815092..31815093 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1020_1021del (p.Tyr340_Ser341delinsTer) deletion Aniridia 1 [RCV000984451] Chr11:31793491..31793492 [GRCh38]
Chr11:31815039..31815040 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1086dup (p.Ser363fs) duplication Aniridia 1 [RCV000984455] Chr11:31790848..31790849 [GRCh38]
Chr11:31812396..31812397 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1103_1112del (p.Tyr368fs) deletion Aniridia 1 [RCV000984457] Chr11:31790823..31790832 [GRCh38]
Chr11:31812371..31812380 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1104C>G (p.Tyr368Ter) single nucleotide variant Aniridia 1 [RCV000984458] Chr11:31790831 [GRCh38]
Chr11:31812379 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1202_1205del (p.Gly401fs) deletion Aniridia 1 [RCV000984461] Chr11:31790730..31790733 [GRCh38]
Chr11:31812278..31812281 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.231_237del (p.Gly78fs) deletion Aniridia 1 [RCV001061424] Chr11:31801723..31801729 [GRCh38]
Chr11:31823271..31823277 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg) single nucleotide variant Aniridia 1 [RCV001070950] Chr11:31802750 [GRCh38]
Chr11:31824298 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu) single nucleotide variant Aniridia 1 [RCV001061481] Chr11:31802780 [GRCh38]
Chr11:31824328 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs) duplication Aniridia 1 [RCV001061758] Chr11:31802779..31802780 [GRCh38]
Chr11:31824327..31824328 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg) single nucleotide variant Aniridia 1 [RCV001034269]|not provided [RCV001772208] Chr11:31794732 [GRCh38]
Chr11:31816280 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
GRCh37/hg19 11p13(chr11:31541617-31813509) copy number loss 11p partial monosomy syndrome [RCV000767569] Chr11:31541617..31813509 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.400-15_400-5del microsatellite Aniridia 1 [RCV000981653]|PAX6-related disorder [RCV004543659]|not provided [RCV001572839]|not specified [RCV001726404] Chr11:31800861..31800871 [GRCh38]
Chr11:31822409..31822419 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.-138_-129+3del deletion Aniridia 1 [RCV000984348] Chr11:31810825..31810837 [GRCh38]
Chr11:31832373..31832385 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.-52+1G>A single nucleotide variant Aniridia 1 [RCV000984349]|not provided [RCV001784479] Chr11:31806848 [GRCh38]
Chr11:31828396 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.47_57del (p.Val16fs) deletion Aniridia 1 [RCV000984354] Chr11:31802788..31802798 [GRCh38]
Chr11:31824336..31824346 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys) single nucleotide variant Aniridia 1 [RCV000984355] Chr11:31802794 [GRCh38]
Chr11:31824342 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.121del (p.Asp41fs) deletion Aniridia 1 [RCV000984369] Chr11:31802724 [GRCh38]
Chr11:31824272 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.125T>G (p.Ile42Ser) single nucleotide variant Aniridia 1 [RCV000984370] Chr11:31802720 [GRCh38]
Chr11:31824268 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.200_201del (p.Val67fs) microsatellite Aniridia 1 [RCV000984377] Chr11:31801759..31801760 [GRCh38]
Chr11:31823307..31823308 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.200T>G (p.Val67Gly) single nucleotide variant Aniridia 1 [RCV000984378] Chr11:31801760 [GRCh38]
Chr11:31823308 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.205A>T (p.Lys69Ter) single nucleotide variant Aniridia 1 [RCV000984379] Chr11:31801755 [GRCh38]
Chr11:31823303 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg) single nucleotide variant Foveal hypoplasia 1 [RCV000984386] Chr11:31801704 [GRCh38]
Chr11:31823252 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) single nucleotide variant Aniridia 1 [RCV000984387]|Aniridia 1 [RCV002549623]|not provided [RCV003117658] Chr11:31801704 [GRCh38]
Chr11:31823252 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.288dup (p.Val97fs) duplication Aniridia 1 [RCV000984388] Chr11:31801671..31801672 [GRCh38]
Chr11:31823219..31823220 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.367del (p.Glu123fs) deletion Aniridia 1 [RCV000984395] Chr11:31801593 [GRCh38]
Chr11:31823141 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.372_373dup (p.Val125fs) duplication Aniridia 1 [RCV000984396] Chr11:31801586..31801587 [GRCh38]
Chr11:31823134..31823135 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.373del (p.Val125fs) deletion Aniridia 1 [RCV000984397]|Aniridia 1 [RCV001245881] Chr11:31801587 [GRCh38]
Chr11:31823135 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs) insertion Aniridia 1 [RCV000984414] Chr11:31800743..31800744 [GRCh38]
Chr11:31822291..31822292 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.632del (p.Asp210_Ser211insTer) deletion Aniridia 1 [RCV000984423] Chr11:31794722 [GRCh38]
Chr11:31816270 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.537G>C (p.Gly179=) single nucleotide variant Aniridia 1 [RCV002066261]|PAX6-related disorder [RCV004533644]|not provided [RCV000950347] Chr11:31800719 [GRCh38]
Chr11:31822267 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1225+5G>A single nucleotide variant Aniridia 1 [RCV000815884] Chr11:31790705 [GRCh38]
Chr11:31812253 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1075-174G>A single nucleotide variant not provided [RCV000833309] Chr11:31791034 [GRCh38]
Chr11:31812582 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.112del (p.Arg38fs) deletion Aniridia 1 [RCV000807435]|Aniridia 1 [RCV000984364] Chr11:31802733 [GRCh38]
Chr11:31824281 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.9:g.(?_31284590)_(31832374_?)del deletion Aniridia 1 [RCV000801986] Chr11:31284590..31832374 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.49_54del (p.Asn17_Gly18del) deletion Aniridia 1 [RCV000816858] Chr11:31802791..31802796 [GRCh38]
Chr11:31824339..31824344 [GRCh37]
Chr11:11p13		 pathogenic|uncertain significance
NM_001368894.2(PAX6):c.1074+107C>T single nucleotide variant not provided [RCV000834330] Chr11:31793331 [GRCh38]
Chr11:31814879 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.817dup (p.Ser273fs) duplication Aniridia 1 [RCV000823497]|Aniridia 1 [RCV000984435] Chr11:31793792..31793793 [GRCh38]
Chr11:31815340..31815341 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.11-12C>G single nucleotide variant Aniridia 1 [RCV002068621]|not provided [RCV000842406] Chr11:31802846 [GRCh38]
Chr11:31824394 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs) deletion Coloboma of optic nerve [RCV000790520]|not specified [RCV002249497] Chr11:31789936..31789942 [GRCh38]
Chr11:31811484..31811490 [GRCh37]
Chr11:11p13		 pathogenic|uncertain significance
NM_001368894.2(PAX6):c.1074+3A>G single nucleotide variant Aniridia 1 [RCV000988512] Chr11:31793435 [GRCh38]
Chr11:31814983 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.35del (p.Gly12fs) deletion Aniridia 1 [RCV000815829] Chr11:31802810 [GRCh38]
Chr11:31824358 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys) single nucleotide variant not provided [RCV000836145]|not specified [RCV001726343] Chr11:31789936 [GRCh38]
Chr11:31811484 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg) single nucleotide variant Aniridia 1 [RCV000803537] Chr11:31794680 [GRCh38]
Chr11:31816228 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.561G>T (p.Thr187=) single nucleotide variant not provided [RCV000896396] Chr11:31800695 [GRCh38]
Chr11:31822243 [GRCh37]
Chr11:11p13		 likely benign
NC_000011.10:g.(?_31794610)_(31794829_?)del deletion Aniridia 1 [RCV000807256] Chr11:31794610..31794829 [GRCh38]
Chr11:31816158..31816377 [GRCh37]
Chr11:11p13		 pathogenic|uncertain significance
NM_001368894.2(PAX6):c.438C>T (p.Ser146=) single nucleotide variant Aniridia 1 [RCV000920563] Chr11:31800818 [GRCh38]
Chr11:31822366 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly) single nucleotide variant Aniridia 1 [RCV000789036]|Foveal hypoplasia 1 [RCV001249825]|not provided [RCV001281650] Chr11:31802733 [GRCh38]
Chr11:31824281 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
GRCh37/hg19 11p13(chr11:31416012-31822354)x1 copy number loss not provided [RCV000846720] Chr11:31416012..31822354 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.111delinsTAGCTCACA (p.Arg38fs) indel not provided [RCV001008638] Chr11:31802734 [GRCh38]
Chr11:31824282 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13		 pathogenic
NM_001368894.2(PAX6):c.1075-4A>T single nucleotide variant not provided [RCV000994593] Chr11:31790864 [GRCh38]
Chr11:31812412 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_001368894.2(PAX6):c.1309del (p.Ter437LysextTer?) deletion Aniridia 1 [RCV000988511] Chr11:31789936 [GRCh38]
Chr11:31811484 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln) single nucleotide variant Aniridia 1 [RCV001237982] Chr11:31793786 [GRCh38]
Chr11:31815334 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.1074+1G>A single nucleotide variant not provided [RCV001091517] Chr11:31793437 [GRCh38]
Chr11:31814985 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) single nucleotide variant 11p partial monosomy syndrome [RCV001103657]|Aniridia 1 [RCV001104915]|Aniridia 1 [RCV001856403]|Anophthalmia-microphthalmia syndrome [RCV001103658]|Autosomal dominant keratitis [RCV001103659]|Foveal hypoplasia 1 [RCV001103656]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103655] Chr11:31801643 [GRCh38]
Chr11:31823191 [GRCh37]
Chr11:11p13		 pathogenic|benign|uncertain significance
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001106543]|Autosomal dominant keratitis [RCV001106545]|Foveal hypoplasia 1 [RCV001106544]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106546] Chr11:31793725 [GRCh38]
Chr11:31815273 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001106649]|Autosomal dominant keratitis [RCV001106650]|Foveal hypoplasia 1 [RCV001106648]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106651] Chr11:31800696 [GRCh38]
Chr11:31822244 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1009del (p.Thr337fs) deletion Aniridia 1 [RCV001229734] Chr11:31793503 [GRCh38]
Chr11:31815051 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001106747]|Autosomal dominant keratitis [RCV001106748]|Foveal hypoplasia 1 [RCV001106745]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106746] Chr11:31802764 [GRCh38]
Chr11:31824312 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.387_393dup (p.Pro132Ter) duplication Aniridia 1 [RCV001250256] Chr11:31801566..31801567 [GRCh38]
Chr11:31823114..31823115 [GRCh37]
Chr11:11p13		 pathogenic
NM_019040.5(ELP4):c.*2845T>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001104435]|Autosomal dominant keratitis [RCV001104438]|Foveal hypoplasia 1 [RCV001104437]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104436] Chr11:31786369 [GRCh38]
Chr11:31807917 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*1615A>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001107475]|Autosomal dominant keratitis [RCV001107476]|Foveal hypoplasia 1 [RCV001107474]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107473] Chr11:31785139 [GRCh38]
Chr11:31806687 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3715T>A single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001104732]|Autosomal dominant keratitis [RCV001104730]|Foveal hypoplasia 1 [RCV001104733]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104731] Chr11:31787239 [GRCh38]
Chr11:31808787 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.609dup (p.Ile204fs) duplication not provided [RCV001008419] Chr11:31794744..31794745 [GRCh38]
Chr11:31816292..31816293 [GRCh37]
Chr11:11p13		 pathogenic
NM_019040.5(ELP4):c.*4542G>T single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001108313]|Autosomal dominant keratitis [RCV001108316]|Foveal hypoplasia 1 [RCV001108314]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108315] Chr11:31788066 [GRCh38]
Chr11:31809614 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser) single nucleotide variant Aniridia 1 [RCV003104696] Chr11:31794753 [GRCh38]
Chr11:31816301 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.400-7T>C single nucleotide variant not provided [RCV001573517] Chr11:31800863 [GRCh38]
Chr11:31822411 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1306C>A (p.Gln436Lys) single nucleotide variant not provided [RCV001573992]|not specified [RCV001727900] Chr11:31789939 [GRCh38]
Chr11:31811487 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.724+152TG[27] microsatellite not provided [RCV001574328] Chr11:31794421..31794424 [GRCh38]
Chr11:31815969..31815972 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.566-146T>A single nucleotide variant not provided [RCV001567182] Chr11:31794934 [GRCh38]
Chr11:31816482 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.724+152TG[18] microsatellite not provided [RCV001658555] Chr11:31794421..31794442 [GRCh38]
Chr11:31815969..31815990 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.142-149T>A single nucleotide variant not provided [RCV001556373] Chr11:31802061 [GRCh38]
Chr11:31823609 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.-128-204G>A single nucleotide variant not provided [RCV001613916] Chr11:31807129 [GRCh38]
Chr11:31828677 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.54del (p.Arg19fs) deletion not provided [RCV001551529] Chr11:31802791 [GRCh38]
Chr11:31824339 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.142-148A>T single nucleotide variant not provided [RCV001694232] Chr11:31802060 [GRCh38]
Chr11:31823608 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.1226-242dup duplication not provided [RCV001587549] Chr11:31790260..31790261 [GRCh38]
Chr11:31811808..31811809 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.961del (p.Ser321fs) deletion not provided [RCV001546652] Chr11:31793551 [GRCh38]
Chr11:31815099 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.4del (p.Gln2fs) deletion Aniridia 1 [RCV000984350] Chr11:31806408 [GRCh38]
Chr11:31827956 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.843del (p.Glu282fs) deletion Aniridia 1 [RCV000984437] Chr11:31793767 [GRCh38]
Chr11:31815315 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.846del (p.Glu283fs) deletion Aniridia 1 [RCV000984438] Chr11:31793764 [GRCh38]
Chr11:31815312 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.854_855del (p.Leu285fs) deletion Aniridia 1 [RCV000984439] Chr11:31793755..31793756 [GRCh38]
Chr11:31815303..31815304 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.871C>T (p.Gln291Ter) single nucleotide variant Aniridia 1 [RCV000984440] Chr11:31793739 [GRCh38]
Chr11:31815287 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.951del (p.Thr318fs) deletion Aniridia 1 [RCV000984441] Chr11:31793659 [GRCh38]
Chr11:31815207 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.958+1G>A single nucleotide variant Aniridia 1 [RCV000984442]|Aniridia 1 [RCV003769285] Chr11:31793651 [GRCh38]
Chr11:31815199 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.958+1G>T single nucleotide variant Aniridia 1 [RCV000984444] Chr11:31793651 [GRCh38]
Chr11:31815199 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1052_1064dup (p.Leu355_Pro356insGlyLysTer) duplication Aniridia 1 [RCV000984445] Chr11:31793447..31793448 [GRCh38]
Chr11:31814995..31814996 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1075-1G>A single nucleotide variant Aniridia 1 [RCV000984453] Chr11:31790861 [GRCh38]
Chr11:31812409 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1079del (p.Pro360fs) deletion Aniridia 1 [RCV000984454] Chr11:31790856 [GRCh38]
Chr11:31812404 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1211del (p.Gly404fs) deletion Aniridia 1 [RCV000984462] Chr11:31790724 [GRCh38]
Chr11:31812272 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1225+4dup duplication Aniridia 1 [RCV000984463] Chr11:31790705..31790706 [GRCh38]
Chr11:31812253..31812254 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1226-1G>C single nucleotide variant Aniridia 1 [RCV000984464] Chr11:31790020 [GRCh38]
Chr11:31811568 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1282dup (p.Met428fs) duplication Aniridia 1 [RCV000984465] Chr11:31789962..31789963 [GRCh38]
Chr11:31811510..31811511 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1294_1308delinsACAGTAAA (p.Trp432fs) indel Aniridia 1 [RCV000984466] Chr11:31789937..31789951 [GRCh38]
Chr11:31811485..31811499 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1295_1304del (p.Trp432fs) deletion Aniridia 1 [RCV000984467] Chr11:31789941..31789950 [GRCh38]
Chr11:31811489..31811498 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln) single nucleotide variant Aniridia 1 [RCV000984468]|not provided [RCV001200336] Chr11:31789936 [GRCh38]
Chr11:31811484 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter) single nucleotide variant Aniridia 1 [RCV001212207]|not provided [RCV001546575] Chr11:31800729 [GRCh38]
Chr11:31822277 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys) single nucleotide variant Coloboma of optic nerve [RCV001199173] Chr11:31789944 [GRCh38]
Chr11:31811492 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.*90A>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001108643]|Autosomal dominant keratitis [RCV001106439]|Foveal hypoplasia 1 [RCV001108644]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106440] Chr11:31789844 [GRCh38]
Chr11:31811392 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.28C>T (p.Gln10Ter) single nucleotide variant Aniridia 1 [RCV001239061] Chr11:31802817 [GRCh38]
Chr11:31824365 [GRCh37]
Chr11:11p13		 pathogenic
NM_019040.5(ELP4):c.*2387C>T single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001107672]|Autosomal dominant keratitis [RCV001107012]|Foveal hypoplasia 1 [RCV001107671]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107670] Chr11:31785911 [GRCh38]
Chr11:31807459 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.532_536del (p.Pro178fs) deletion Aniridia 1 [RCV001239657] Chr11:31800720..31800724 [GRCh38]
Chr11:31822268..31822272 [GRCh37]
Chr11:11p13		 pathogenic
NM_019040.5(ELP4):c.*2522G>T single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001107099]|Autosomal dominant keratitis [RCV001104348]|Foveal hypoplasia 1 [RCV001104347]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104349] Chr11:31786046 [GRCh38]
Chr11:31807594 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) single nucleotide variant 11p partial monosomy syndrome [RCV001105403]|Aniridia 1 [RCV001106541]|Aniridia 1 [RCV002067781]|Anophthalmia-microphthalmia syndrome [RCV001105404]|Autosomal dominant keratitis [RCV001105402]|Foveal hypoplasia 1 [RCV001106540]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106542] Chr11:31793701 [GRCh38]
Chr11:31815249 [GRCh37]
Chr11:11p13		 benign|uncertain significance
NM_001368894.2(PAX6):c.399+4A>G single nucleotide variant not provided [RCV001765638] Chr11:31801557 [GRCh38]
Chr11:31823105 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.807+6G>A single nucleotide variant Aniridia 1 [RCV002568324]|not provided [RCV001550932] Chr11:31794026 [GRCh38]
Chr11:31815574 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_001368894.2(PAX6):c.807+5C>T single nucleotide variant Aniridia 1 [RCV001858793]|not provided [RCV000994594] Chr11:31794027 [GRCh38]
Chr11:31815575 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.724G>A (p.Glu242Lys) single nucleotide variant not provided [RCV000994595] Chr11:31794630 [GRCh38]
Chr11:31816178 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.1226-242del deletion not provided [RCV001676163] Chr11:31790261 [GRCh38]
Chr11:31811809 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.724+152TG[19] microsatellite not provided [RCV001656602] Chr11:31794421..31794440 [GRCh38]
Chr11:31815969..31815988 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.399+255A>G single nucleotide variant not provided [RCV001556276] Chr11:31801306 [GRCh38]
Chr11:31822854 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.866_867del (p.Arg289fs) microsatellite not provided [RCV001008760] Chr11:31793743..31793744 [GRCh38]
Chr11:31815291..31815292 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.435T>C (p.Ala145=) single nucleotide variant not provided [RCV001726619]|not specified [RCV001699845] Chr11:31800821 [GRCh38]
Chr11:31822369 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.724+152TG[20] microsatellite not provided [RCV001688792] Chr11:31794421..31794438 [GRCh38]
Chr11:31815969..31815986 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.11-275dup duplication not provided [RCV001652487] Chr11:31803108..31803109 [GRCh38]
Chr11:31824656..31824657 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter) single nucleotide variant Aniridia 1 [RCV003771817]|not provided [RCV001658768] Chr11:31790845 [GRCh38]
Chr11:31812393 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.*20_*21del (p.Ter437=) deletion Coloboma of optic nerve [RCV003451835]|PAX6-related ocular dysgenesis [RCV003327301]|not provided [RCV001637441] Chr11:31789913..31789914 [GRCh38]
Chr11:31811461..31811462 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.1225+43T>G single nucleotide variant not provided [RCV001689278] Chr11:31790667 [GRCh38]
Chr11:31812215 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.808G>T (p.Val270Leu) single nucleotide variant Aniridia 1 [RCV001048815] Chr11:31793802 [GRCh38]
Chr11:31815350 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.*247T>A single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001105304]|Autosomal dominant keratitis [RCV001105305]|Foveal hypoplasia 1 [RCV001103394]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103395] Chr11:31789687 [GRCh38]
Chr11:31811235 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3772G>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001104735]|Autosomal dominant keratitis [RCV001104734]|Foveal hypoplasia 1 [RCV001105873]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105874] Chr11:31787296 [GRCh38]
Chr11:31808844 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4441T>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001108311]|Autosomal dominant keratitis [RCV001108310]|Foveal hypoplasia 1 [RCV001108312]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108309] Chr11:31787965 [GRCh38]
Chr11:31809513 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001103478]|Autosomal dominant keratitis [RCV001103476]|Foveal hypoplasia 1 [RCV001103479]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103477] Chr11:31793520 [GRCh38]
Chr11:31815068 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) single nucleotide variant 11p partial monosomy syndrome [RCV001105398]|Aniridia 1 [RCV003769094]|Anophthalmia-microphthalmia syndrome [RCV001105397]|Autosomal dominant keratitis [RCV001105400]|Foveal hypoplasia 1 [RCV001105401]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105399] Chr11:31793540 [GRCh38]
Chr11:31815088 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_019040.5(ELP4):c.*3851C>T single nucleotide variant 11p partial monosomy syndrome [RCV001105880]|Aniridia 1 [RCV001105875]|Anophthalmia-microphthalmia syndrome [RCV001105876]|Autosomal dominant keratitis [RCV001105877]|Foveal hypoplasia 1 [RCV001105879]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105878] Chr11:31787375 [GRCh38]
Chr11:31808923 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.*626G>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001105213]|Autosomal dominant keratitis [RCV001105214]|Foveal hypoplasia 1 [RCV001105215]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105216] Chr11:31789308 [GRCh38]
Chr11:31810856 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4323G>T single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001106077]|Autosomal dominant keratitis [RCV001106078]|Foveal hypoplasia 1 [RCV001106080]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106079] Chr11:31787847 [GRCh38]
Chr11:31809395 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4974C>T single nucleotide variant 11p partial monosomy syndrome [RCV001106175]|Anophthalmia-microphthalmia syndrome [RCV001108390]|Autosomal dominant keratitis [RCV001106176]|Foveal hypoplasia 1 [RCV001106178]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001106177] Chr11:31788498 [GRCh38]
Chr11:31810046 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001105489]|Autosomal dominant keratitis [RCV001105487]|Foveal hypoplasia 1 [RCV001105486]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105488] Chr11:31794664 [GRCh38]
Chr11:31816212 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001105594]|Autosomal dominant keratitis [RCV001105595]|Foveal hypoplasia 1 [RCV001105596]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001105597] Chr11:31801741 [GRCh38]
Chr11:31823289 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001106652]|Autosomal dominant keratitis [RCV001106653]|Foveal hypoplasia 1 [RCV001106654]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108805] Chr11:31800745 [GRCh38]
Chr11:31822293 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3588A>G single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001108027]|Autosomal dominant keratitis [RCV001107373]|Foveal hypoplasia 1 [RCV001107372]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107371] Chr11:31787112 [GRCh38]
Chr11:31808660 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2992G>A single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001107190]|Autosomal dominant keratitis [RCV001107191]|Foveal hypoplasia 1 [RCV001107189]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107192] Chr11:31786516 [GRCh38]
Chr11:31808064 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4056G>A single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001108209]|Autosomal dominant keratitis [RCV001108208]|Foveal hypoplasia 1 [RCV001108206]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108207] Chr11:31787580 [GRCh38]
Chr11:31809128 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3303G>A single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001107284]|Autosomal dominant keratitis [RCV001107281]|Foveal hypoplasia 1 [RCV001107283]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107282] Chr11:31786827 [GRCh38]
Chr11:31808375 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3706T>A single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001102804]|Autosomal dominant keratitis [RCV001102806]|Foveal hypoplasia 1 [RCV001108028]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001102805] Chr11:31787230 [GRCh38]
Chr11:31808778 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*4571A>G single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001103105]|Autosomal dominant keratitis [RCV001103106]|Foveal hypoplasia 1 [RCV001103107]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103108] Chr11:31788095 [GRCh38]
Chr11:31809643 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001108806]|Autosomal dominant keratitis [RCV001108809]|Foveal hypoplasia 1 [RCV001108807]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001108808] Chr11:31800803 [GRCh38]
Chr11:31822351 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.10+1G>C single nucleotide variant Congenital aniridia [RCV001003108] Chr11:31806401 [GRCh38]
Chr11:31827949 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.225del (p.Tyr74_Tyr75insTer) deletion not provided [RCV001682639] Chr11:31801735 [GRCh38]
Chr11:31823283 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.725-234A>T single nucleotide variant not provided [RCV001684511] Chr11:31794348 [GRCh38]
Chr11:31815896 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.11-41T>C single nucleotide variant not provided [RCV001665914] Chr11:31802875 [GRCh38]
Chr11:31824423 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.141+318C>T single nucleotide variant not provided [RCV001693300] Chr11:31802386 [GRCh38]
Chr11:31823934 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.*21dup (p.Ter437=) duplication Coloboma of optic nerve [RCV003451838]|not provided [RCV001667439] Chr11:31789912..31789913 [GRCh38]
Chr11:31811460..31811461 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.10+275C>G single nucleotide variant not provided [RCV001681018] Chr11:31806127 [GRCh38]
Chr11:31827675 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.358_359insA (p.Leu120fs) insertion Aniridia 1 [RCV001036028] Chr11:31801601..31801602 [GRCh38]
Chr11:31823149..31823150 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.10+1635_70del deletion Aniridia 1 [RCV001036374] Chr11:31802775..31804767 [GRCh38]
Chr11:31824323..31826315 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.724+152TG[17] microsatellite not provided [RCV001645290] Chr11:31794421..31794444 [GRCh38]
Chr11:31815969..31815992 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
NM_001368894.2(PAX6):c.495_496delinsTT (p.Gln166Ter) indel Aniridia 1 [RCV001045981] Chr11:31800760..31800761 [GRCh38]
Chr11:31822308..31822309 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.999C>G (p.Asp333Glu) single nucleotide variant not provided [RCV001200337] Chr11:31793513 [GRCh38]
Chr11:31815061 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs) deletion Aniridia 1 [RCV001213235] Chr11:31793482..31793488 [GRCh38]
Chr11:31815030..31815036 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.245C>T (p.Pro82Leu) single nucleotide variant Aniridia 1 [RCV001218640] Chr11:31801715 [GRCh38]
Chr11:31823263 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.373_377del (p.Val125fs) deletion not provided [RCV001008235] Chr11:31801583..31801587 [GRCh38]
Chr11:31823131..31823135 [GRCh37]
Chr11:11p13		 pathogenic
NM_019040.5(ELP4):c.*1404G>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001106821]|Autosomal dominant keratitis [RCV001107470]|Foveal hypoplasia 1 [RCV001107472]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107471] Chr11:31784928 [GRCh38]
Chr11:31806476 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1242del (p.Val415fs) deletion not provided [RCV001008808] Chr11:31790003 [GRCh38]
Chr11:31811551 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.*842G>A single nucleotide variant 11p partial monosomy syndrome [RCV001103308]|Aniridia 1 [RCV001103304]|Anophthalmia-microphthalmia syndrome [RCV001103303]|Autosomal dominant keratitis [RCV001103307]|Foveal hypoplasia 1 [RCV001103305]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103306]|not provided [RCV002282456] Chr11:31789092 [GRCh38]
Chr11:31810640 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_019040.5(ELP4):c.*2041C>G single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001103953]|Autosomal dominant keratitis [RCV001103954]|Foveal hypoplasia 1 [RCV001103952]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103955] Chr11:31785565 [GRCh38]
Chr11:31807113 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*3207T>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001107838]|Autosomal dominant keratitis [RCV001107839]|Foveal hypoplasia 1 [RCV001107840]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107837] Chr11:31786731 [GRCh38]
Chr11:31808279 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.*272T>G single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001103392]|Autosomal dominant keratitis [RCV001103390]|Foveal hypoplasia 1 [RCV001103393]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103391] Chr11:31789662 [GRCh38]
Chr11:31811210 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp) single nucleotide variant Aniridia 1 [RCV001042089] Chr11:31800763 [GRCh38]
Chr11:31822311 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-167G>T single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001103752]|Autosomal dominant keratitis [RCV001103754]|Foveal hypoplasia 1 [RCV001103751]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001103753] Chr11:31810866 [GRCh38]
Chr11:31832414 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*1626G>A single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001103845]|Autosomal dominant keratitis [RCV001103846]|Foveal hypoplasia 1 [RCV001103844]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001107477] Chr11:31785150 [GRCh38]
Chr11:31806698 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2716T>C single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV001107769]|Autosomal dominant keratitis [RCV001107770]|Foveal hypoplasia 1 [RCV001104130]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104131] Chr11:31786240 [GRCh38]
Chr11:31807788 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2982G>A single nucleotide variant 11p partial monosomy syndrome [RCV001107188]|Aniridia 1 [RCV001104441]|Anophthalmia-microphthalmia syndrome [RCV001107187]|Autosomal dominant keratitis [RCV001104440]|Foveal hypoplasia 1 [RCV001104442]|carboxymethyl-dextran-A2-gadolinium-DOTA [RCV001104439] Chr11:31786506 [GRCh38]
Chr11:31808054 [GRCh37]
Chr11:11p13		 benign|likely benign|uncertain significance
NM_001368894.2(PAX6):c.11-218_565+80del deletion Aniridia 1 [RCV001251139] Chr11:31800611..31803052 [GRCh38]
Chr11:31822159..31824600 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val) single nucleotide variant Aniridia 1 [RCV002546794]|Coloboma of optic nerve [RCV001336773] Chr11:31790737 [GRCh38]
Chr11:31812285 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.483del (p.Met162fs) deletion Aniridia 1 [RCV001382739] Chr11:31800773 [GRCh38]
Chr11:31822321 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala) single nucleotide variant Irido-corneo-trabecular dysgenesis [RCV001269464] Chr11:31802807 [GRCh38]
Chr11:31824355 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1074+139C>T single nucleotide variant Coloboma, ocular, autosomal dominant [RCV001354047] Chr11:31793299 [GRCh38]
Chr11:31814847 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.141+55G>A single nucleotide variant not provided [RCV001354774] Chr11:31802649 [GRCh38]
Chr11:31824197 [GRCh37]
Chr11:11p13		 benign|uncertain significance
NM_001368894.2(PAX6):c.501C>T (p.Thr167=) single nucleotide variant Aniridia 1 [RCV001422872]|not provided [RCV003394044] Chr11:31800755 [GRCh38]
Chr11:31822303 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser) single nucleotide variant Aniridia 1 [RCV001346651] Chr11:31800839 [GRCh38]
Chr11:31822387 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser) single nucleotide variant Irido-corneo-trabecular dysgenesis [RCV001269465] Chr11:31793782 [GRCh38]
Chr11:31815330 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.330_331dup (p.Ile111fs) duplication not provided [RCV001269870] Chr11:31801628..31801629 [GRCh38]
Chr11:31823176..31823177 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu) single nucleotide variant Aniridia 1 [RCV001323142] Chr11:31801685 [GRCh38]
Chr11:31823233 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.*19_*21del (p.Ter437=) deletion Coloboma of optic nerve (disease) [RCV001336774] Chr11:31789913..31789915 [GRCh38]
Chr11:31811461..31811463 [GRCh37]
Chr11:11p13		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_001368894.2(PAX6):c.-52+1del deletion Aniridia 1 [RCV001346239] Chr11:31806848 [GRCh38]
Chr11:31828396 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.463_464dup (p.Met156fs) duplication not provided [RCV001269930] Chr11:31800791..31800792 [GRCh38]
Chr11:31822339..31822340 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.699A>G (p.Gln233=) single nucleotide variant Aniridia 1 [RCV001412595] Chr11:31794655 [GRCh38]
Chr11:31816203 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.*21del (p.Ter437=) deletion not provided [RCV001695032]|not specified [RCV002246456] Chr11:31789913 [GRCh38]
Chr11:31811461 [GRCh37]
Chr11:11p13		 pathogenic|benign|likely benign
NM_001368894.2(PAX6):c.1226-13C>T single nucleotide variant Aniridia 1 [RCV001424821] Chr11:31790032 [GRCh38]
Chr11:31811580 [GRCh37]
Chr11:11p13		 likely benign
NC_000011.9:g.(?_31804921)_(31816377_?)del deletion Aniridia 1 [RCV001385452] Chr11:31804921..31816377 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1075-275A>C single nucleotide variant Aniridia 1 [RCV001516982] Chr11:31791135 [GRCh38]
Chr11:31812683 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.399+38G>A single nucleotide variant not provided [RCV001538202] Chr11:31801523 [GRCh38]
Chr11:31823071 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.1242T>G (p.Gly414=) single nucleotide variant Aniridia 1 [RCV001439590] Chr11:31790003 [GRCh38]
Chr11:31811551 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.717G>A (p.Leu239=) single nucleotide variant Aniridia 1 [RCV001483894] Chr11:31794637 [GRCh38]
Chr11:31816185 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.276A>G (p.Val92=) single nucleotide variant Aniridia 1 [RCV001486745] Chr11:31801684 [GRCh38]
Chr11:31823232 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1101A>G (p.Ser367=) single nucleotide variant Aniridia 1 [RCV001500814] Chr11:31790834 [GRCh38]
Chr11:31812382 [GRCh37]
Chr11:11p13		 likely benign
NC_000011.9:g.(?_31284590)_(31824402_?)del deletion Aniridia 1 [RCV001385451] Chr11:31284590..31824402 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.720del (p.Glu242fs) deletion Aniridia 1 [RCV001388581] Chr11:31794634 [GRCh38]
Chr11:31816182 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.52G>A (p.Gly18Arg) single nucleotide variant Aniridia 1 [RCV001388985] Chr11:31802793 [GRCh38]
Chr11:31824341 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.-122dup duplication Aniridia 1 [RCV001449888] Chr11:31806918..31806919 [GRCh38]
Chr11:31828466..31828467 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.141+231C>T single nucleotide variant not provided [RCV001690631] Chr11:31802473 [GRCh38]
Chr11:31824021 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.724+152TG[21] microsatellite not provided [RCV001686445] Chr11:31794421..31794436 [GRCh38]
Chr11:31815969..31815984 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.978C>T (p.Gly326=) single nucleotide variant Aniridia 1 [RCV001520411] Chr11:31793534 [GRCh38]
Chr11:31815082 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.11-195G>A single nucleotide variant not provided [RCV001717424] Chr11:31803029 [GRCh38]
Chr11:31824577 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.10+305C>T single nucleotide variant not provided [RCV001616312] Chr11:31806097 [GRCh38]
Chr11:31827645 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.566-173G>T single nucleotide variant not provided [RCV001586981] Chr11:31794961 [GRCh38]
Chr11:31816509 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.-52+123T>C single nucleotide variant not provided [RCV001614088] Chr11:31806726 [GRCh38]
Chr11:31828274 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.-118T>C single nucleotide variant Aniridia 1 [RCV002072342]|PAX6-related disorder [RCV004542036]|not provided [RCV001589988] Chr11:31806915 [GRCh38]
Chr11:31828463 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.10+300T>C single nucleotide variant not provided [RCV001614287] Chr11:31806102 [GRCh38]
Chr11:31827650 [GRCh37]
Chr11:11p13		 benign
NC_000011.9:g.(?_31824327)_31826319del deletion Aniridia 1 [RCV001377764]   likely pathogenic
NM_001368894.2(PAX6):c.117G>C (p.Pro39=) single nucleotide variant Aniridia 1 [RCV001473466]|not provided [RCV001655729] Chr11:31802728 [GRCh38]
Chr11:31824276 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.959-7C>T single nucleotide variant Aniridia 1 [RCV001519685]|PAX6-related disorder [RCV004533942] Chr11:31793560 [GRCh38]
Chr11:31815108 [GRCh37]
Chr11:11p13		 benign|likely benign
NM_001368894.2(PAX6):c.790_806del (p.Pro264fs) deletion Aniridia 1 [RCV001381920] Chr11:31794033..31794049 [GRCh38]
Chr11:31815581..31815597 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp) single nucleotide variant Aniridia 1 [RCV003093967]|Irido-corneo-trabecular dysgenesis [RCV002245510] Chr11:31801700 [GRCh38]
Chr11:31823248 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly) single nucleotide variant Aniridia 1 [RCV003108322] Chr11:31793491 [GRCh38]
Chr11:31815039 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln) single nucleotide variant Aniridia 1 [RCV001868623]|Congenital aniridia [RCV002225937]|not provided [RCV001771547] Chr11:31794078 [GRCh38]
Chr11:31815626 [GRCh37]
Chr11:11p13		 uncertain significance|not provided
NM_001368894.2(PAX6):c.55C>T (p.Arg19Trp) single nucleotide variant not provided [RCV001752436] Chr11:31802790 [GRCh38]
Chr11:31824338 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-129+1G>C single nucleotide variant not provided [RCV001765951] Chr11:31810827 [GRCh38]
Chr11:31832375 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.808G>C (p.Val270Leu) single nucleotide variant not provided [RCV001768837] Chr11:31793802 [GRCh38]
Chr11:31815350 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1166dup (p.His390fs) duplication Aniridia 1 [RCV003772154]|not provided [RCV001782568] Chr11:31790768..31790769 [GRCh38]
Chr11:31812316..31812317 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.956del (p.Pro319fs) deletion Aniridia 1 [RCV001795880] Chr11:31793654 [GRCh38]
Chr11:31815202 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1142G>A (p.Arg381Gln) single nucleotide variant Aniridia 1 [RCV001990681] Chr11:31790793 [GRCh38]
Chr11:31812341 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala) single nucleotide variant Aniridia 1 [RCV002038888] Chr11:31793661 [GRCh38]
Chr11:31815209 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.829del (p.Ala277fs) deletion Aniridia 1 [RCV001874944] Chr11:31793781 [GRCh38]
Chr11:31815329 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) deletion Aniridia 1 [RCV001871471]|Aniridia 1 [RCV002478248] Chr11:31800692..31800700 [GRCh38]
Chr11:31822240..31822248 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2022_*2023del deletion Aniridia 1 [RCV001968850] Chr11:31785544..31785545 [GRCh38]
Chr11:31807092..31807093 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.958+4A>T single nucleotide variant Aniridia 1 [RCV002007882]|not provided [RCV002253994] Chr11:31793648 [GRCh38]
Chr11:31815196 [GRCh37]
Chr11:11p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001368894.2(PAX6):c.161T>G (p.Val54Gly) single nucleotide variant not provided [RCV001847467] Chr11:31801893 [GRCh38]
Chr11:31823441 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter) single nucleotide variant Aniridia 1 [RCV002037739] Chr11:31801735 [GRCh38]
Chr11:31823283 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.9:g.(?_31616297)_(31832375_?)dup duplication Aniridia 1 [RCV004580170] Chr11:31616297..31832375 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr) single nucleotide variant Aniridia 1 [RCV002050444] Chr11:31793469 [GRCh38]
Chr11:31815017 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.709G>T (p.Glu237Ter) single nucleotide variant Aniridia 1 [RCV002035231] Chr11:31794645 [GRCh38]
Chr11:31816193 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1282A>G (p.Met428Val) single nucleotide variant Aniridia 1 [RCV002035667]|Inborn genetic diseases [RCV004045943] Chr11:31789963 [GRCh38]
Chr11:31811511 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.690del (p.Phe231fs) deletion Aniridia 1 [RCV001999724] Chr11:31794664 [GRCh38]
Chr11:31816212 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.957G>A (p.Pro319=) single nucleotide variant Aniridia 1 [RCV002000490] Chr11:31793653 [GRCh38]
Chr11:31815201 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.290T>C (p.Val97Ala) single nucleotide variant Aniridia 1 [RCV002043644] Chr11:31801670 [GRCh38]
Chr11:31823218 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.538A>T (p.Thr180Ser) single nucleotide variant Aniridia 1 [RCV002043505] Chr11:31800718 [GRCh38]
Chr11:31822266 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) single nucleotide variant Aniridia 1 [RCV002026301]|Aniridia 1 [RCV002471220] Chr11:31802704 [GRCh38]
Chr11:31824252 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.1130C>T (p.Ser377Leu) single nucleotide variant Aniridia 1 [RCV002019062] Chr11:31790805 [GRCh38]
Chr11:31812353 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.537_541dup (p.Ser181Ter) duplication not provided [RCV001837618] Chr11:31800714..31800715 [GRCh38]
Chr11:31822262..31822263 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp) single nucleotide variant Aniridia 1 [RCV001952009] Chr11:31800732 [GRCh38]
Chr11:31822280 [GRCh37]
Chr11:11p13		 uncertain significance
NC_000011.9:g.(?_31824326)_(31832375_?)del deletion Aniridia 1 [RCV002037620] Chr11:31824326..31832375 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val) single nucleotide variant Aniridia 1 [RCV001927909] Chr11:31802825 [GRCh38]
Chr11:31824373 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.541T>A (p.Ser181Thr) single nucleotide variant Aniridia 1 [RCV001907168] Chr11:31800715 [GRCh38]
Chr11:31822263 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu) single nucleotide variant Aniridia 1 [RCV001966495] Chr11:31801691 [GRCh38]
Chr11:31823239 [GRCh37]
Chr11:11p13		 likely pathogenic
NC_000011.9:g.(?_31669269)_(32460464_?)del deletion not provided [RCV003120779] Chr11:31669269..32460464 [GRCh37]
Chr11:11p13		 pathogenic|uncertain significance
NM_001368894.2(PAX6):c.1086del (p.Ser363fs) deletion Aniridia 1 [RCV001917511] Chr11:31790849 [GRCh38]
Chr11:31812397 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1121C>T (p.Thr374Ile) single nucleotide variant Aniridia 1 [RCV001949992] Chr11:31790814 [GRCh38]
Chr11:31812362 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.336T>A (p.Phe112Leu) single nucleotide variant Aniridia 1 [RCV001926568] Chr11:31801624 [GRCh38]
Chr11:31823172 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.399+3A>T single nucleotide variant Aniridia 1 [RCV001985462] Chr11:31801558 [GRCh38]
Chr11:31823106 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.590G>C (p.Gly197Ala) single nucleotide variant Aniridia 1 [RCV001985051]|not provided [RCV003130628] Chr11:31794764 [GRCh38]
Chr11:31816312 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.417del (p.Val140fs) deletion Aniridia 1 [RCV001958818] Chr11:31800839 [GRCh38]
Chr11:31822387 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.556C>A (p.Pro186Thr) single nucleotide variant Aniridia 1 [RCV001930367] Chr11:31800700 [GRCh38]
Chr11:31822248 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.399+1G>C single nucleotide variant Aniridia 1 [RCV001963138] Chr11:31801560 [GRCh38]
Chr11:31823108 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.399_399+2del deletion Aniridia 1 [RCV001946971] Chr11:31801559..31801561 [GRCh38]
Chr11:31823107..31823109 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.803T>G (p.Ile268Arg) single nucleotide variant Aniridia 1 [RCV001976652] Chr11:31794036 [GRCh38]
Chr11:31815584 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu) single nucleotide variant Aniridia 1 [RCV001922007]|not provided [RCV003134187] Chr11:31802789 [GRCh38]
Chr11:31824337 [GRCh37]
Chr11:11p13		 uncertain significance
NC_000011.9:g.(?_31284610)_(31828475_?)del deletion Aniridia 1 [RCV001959123] Chr11:31284610..31828475 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.249G>T (p.Arg83Ser) single nucleotide variant Aniridia 1 [RCV001903869] Chr11:31801711 [GRCh38]
Chr11:31823259 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.802_807+9del deletion Aniridia 1 [RCV001963082] Chr11:31794023..31794037 [GRCh38]
Chr11:31815571..31815585 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.9:g.(?_31804921)_(31812428_?)del deletion Aniridia 1 [RCV001958778] Chr11:31804921..31812428 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys) single nucleotide variant Aniridia 1 [RCV001974122] Chr11:31800703 [GRCh38]
Chr11:31822251 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1061del (p.Asn354fs) deletion Aniridia 1 [RCV001887044] Chr11:31793451 [GRCh38]
Chr11:31814999 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.400-2A>T single nucleotide variant Aniridia 1 [RCV001975078] Chr11:31800858 [GRCh38]
Chr11:31822406 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg) single nucleotide variant Aniridia 1 [RCV001975226] Chr11:31790710 [GRCh38]
Chr11:31812258 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys) single nucleotide variant Aniridia 1 [RCV001888359] Chr11:31800786 [GRCh38]
Chr11:31822334 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln) single nucleotide variant Aniridia 1 [RCV001976953] Chr11:31801691 [GRCh38]
Chr11:31823239 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.956C>T (p.Pro319Leu) single nucleotide variant Aniridia 1 [RCV001978931] Chr11:31793654 [GRCh38]
Chr11:31815202 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.184-9C>G single nucleotide variant Aniridia 1 [RCV001975988] Chr11:31801785 [GRCh38]
Chr11:31823333 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_001368894.2(PAX6):c.385_386dup (p.Asp129fs) duplication Aniridia 1 [RCV001939153] Chr11:31801573..31801574 [GRCh38]
Chr11:31823121..31823122 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.184-3C>T single nucleotide variant Aniridia 1 [RCV001899518] Chr11:31801779 [GRCh38]
Chr11:31823327 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile) single nucleotide variant Aniridia 1 [RCV001961874] Chr11:31790854 [GRCh38]
Chr11:31812402 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.399+2T>C single nucleotide variant Aniridia 1 [RCV001962494] Chr11:31801559 [GRCh38]
Chr11:31823107 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu) single nucleotide variant Aniridia 1 [RCV001967969] Chr11:31800723 [GRCh38]
Chr11:31822271 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1074+1G>C single nucleotide variant Aniridia 1 [RCV001946374]|Aniridia 1 [RCV003336466] Chr11:31793437 [GRCh38]
Chr11:31814985 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.425G>C (p.Arg142Pro) single nucleotide variant Aniridia 1 [RCV001972713] Chr11:31800831 [GRCh38]
Chr11:31822379 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.725-18A>G single nucleotide variant Aniridia 1 [RCV002106550] Chr11:31794132 [GRCh38]
Chr11:31815680 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.959-20G>A single nucleotide variant Aniridia 1 [RCV002111017] Chr11:31793573 [GRCh38]
Chr11:31815121 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.561G>A (p.Thr187=) single nucleotide variant Aniridia 1 [RCV002080586] Chr11:31800695 [GRCh38]
Chr11:31822243 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.807+14G>A single nucleotide variant Aniridia 1 [RCV002079360] Chr11:31794018 [GRCh38]
Chr11:31815566 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.981C>T (p.Ser327=) single nucleotide variant Aniridia 1 [RCV002087992] Chr11:31793531 [GRCh38]
Chr11:31815079 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1131G>A (p.Ser377=) single nucleotide variant Aniridia 1 [RCV002096366] Chr11:31790804 [GRCh38]
Chr11:31812352 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1098C>T (p.Ser366=) single nucleotide variant Aniridia 1 [RCV002217215] Chr11:31790837 [GRCh38]
Chr11:31812385 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1068T>G (p.Pro356=) single nucleotide variant Aniridia 1 [RCV002097620] Chr11:31793444 [GRCh38]
Chr11:31814992 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.405A>G (p.Ser135=) single nucleotide variant Aniridia 1 [RCV002101274] Chr11:31800851 [GRCh38]
Chr11:31822399 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.11-10C>G single nucleotide variant Aniridia 1 [RCV002220949] Chr11:31802844 [GRCh38]
Chr11:31824392 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=) single nucleotide variant Aniridia 1 [RCV002108994]|PAX6-related disorder [RCV004531450] Chr11:31790009 [GRCh38]
Chr11:31811557 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.525T>A (p.Gly175=) single nucleotide variant Aniridia 1 [RCV002108346] Chr11:31800731 [GRCh38]
Chr11:31822279 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.399+10_399+11del deletion Aniridia 1 [RCV002118460] Chr11:31801550..31801551 [GRCh38]
Chr11:31823098..31823099 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.117G>T (p.Pro39=) single nucleotide variant Aniridia 1 [RCV002121291] Chr11:31802728 [GRCh38]
Chr11:31824276 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.724+14del deletion Aniridia 1 [RCV002132021] Chr11:31794616 [GRCh38]
Chr11:31816164 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.10+7G>T single nucleotide variant Aniridia 1 [RCV002189817] Chr11:31806395 [GRCh38]
Chr11:31827943 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.349C>A (p.Arg117=) single nucleotide variant Aniridia 1 [RCV002203486] Chr11:31801611 [GRCh38]
Chr11:31823159 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.184-4G>T single nucleotide variant Aniridia 1 [RCV002089050] Chr11:31801780 [GRCh38]
Chr11:31823328 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.462C>T (p.Asp154=) single nucleotide variant Aniridia 1 [RCV002218476]|not provided [RCV003130686] Chr11:31800794 [GRCh38]
Chr11:31822342 [GRCh37]
Chr11:11p13		 likely benign|uncertain significance
NM_001368894.2(PAX6):c.10+17T>C single nucleotide variant Aniridia 1 [RCV002137189] Chr11:31806385 [GRCh38]
Chr11:31827933 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1230C>A (p.Leu410=) single nucleotide variant Aniridia 1 [RCV002140407] Chr11:31790015 [GRCh38]
Chr11:31811563 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.306C>G (p.Ala102=) single nucleotide variant Aniridia 1 [RCV002071122] Chr11:31801654 [GRCh38]
Chr11:31823202 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.243A>G (p.Arg81=) single nucleotide variant Aniridia 1 [RCV002152678] Chr11:31801717 [GRCh38]
Chr11:31823265 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.141+9C>G single nucleotide variant Aniridia 1 [RCV002165309] Chr11:31802695 [GRCh38]
Chr11:31824243 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1226-4C>G single nucleotide variant Aniridia 1 [RCV002178245] Chr11:31790023 [GRCh38]
Chr11:31811571 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.725-19A>C single nucleotide variant Aniridia 1 [RCV002178919] Chr11:31794133 [GRCh38]
Chr11:31815681 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.318G>A (p.Arg106=) single nucleotide variant Aniridia 1 [RCV002101218] Chr11:31801642 [GRCh38]
Chr11:31823190 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.10+7G>A single nucleotide variant Aniridia 1 [RCV002181229] Chr11:31806395 [GRCh38]
Chr11:31827943 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.768A>G (p.Arg256=) single nucleotide variant Aniridia 1 [RCV002078176] Chr11:31794071 [GRCh38]
Chr11:31815619 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.11-24_11-20dup duplication Aniridia 1 [RCV002171365] Chr11:31802853..31802854 [GRCh38]
Chr11:31824401..31824402 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1020C>T (p.Tyr340=) single nucleotide variant Aniridia 1 [RCV002209967] Chr11:31793492 [GRCh38]
Chr11:31815040 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) single nucleotide variant Aniridia 1 [RCV002158341]|Aniridia 1 [RCV002505835] Chr11:31790714 [GRCh38]
Chr11:31812262 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.658C>T (p.Leu220=) single nucleotide variant Aniridia 1 [RCV002179922] Chr11:31794696 [GRCh38]
Chr11:31816244 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1164C>T (p.Pro388=) single nucleotide variant Aniridia 1 [RCV002080437] Chr11:31790771 [GRCh38]
Chr11:31812319 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1194G>A (p.Gln398=) single nucleotide variant Aniridia 1 [RCV002206768] Chr11:31790741 [GRCh38]
Chr11:31812289 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1074+3_1074+6del microsatellite Aniridia 1 [RCV003089205]|not provided [RCV002226070] Chr11:31793432..31793435 [GRCh38]
Chr11:31814980..31814983 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.456C>T (p.Gly152=) single nucleotide variant Aniridia 1 [RCV002095663] Chr11:31800800 [GRCh38]
Chr11:31822348 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1074+9G>A single nucleotide variant Aniridia 1 [RCV002109673] Chr11:31793429 [GRCh38]
Chr11:31814977 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln) single nucleotide variant Aniridia 1 [RCV003093992]|not specified [RCV002248079] Chr11:31790769 [GRCh38]
Chr11:31812317 [GRCh37]
Chr11:11p13		 benign|uncertain significance
NM_001368894.2(PAX6):c.683G>C (p.Arg228Thr) single nucleotide variant See cases [RCV002252543] Chr11:31794671 [GRCh38]
Chr11:31816219 [GRCh37]
Chr11:11p13		 likely pathogenic
NC_000011.9:g.(?_31815560)_(31824402_?)del deletion Aniridia 1 [RCV003110925] Chr11:31815560..31824402 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.9:g.(?_31625295)_(31822424_?)del deletion Aniridia 1 [RCV003110926] Chr11:31625295..31822424 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.9:g.(?_31814966)_(31816356_?)del deletion Aniridia 1 [RCV003110927] Chr11:31814966..31816356 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.9:g.(?_31822233)_(31823148_?)del deletion Aniridia 1 [RCV003110928] Chr11:31822233..31823148 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.9:g.(?_31804921)_(31816356_?)del deletion Aniridia 1 [RCV003110929] Chr11:31804921..31816356 [GRCh37]
Chr11:11p13		 pathogenic
NC_000011.9:g.(?_30253450)_(32460464_?)del deletion not provided [RCV003113910] Chr11:30253450..32460464 [GRCh37]
Chr11:11p14.1-13		 uncertain significance
NC_000011.9:g.(?_31804921)_(31807095_?)del deletion not provided [RCV003119948] Chr11:31804921..31807095 [GRCh37]
Chr11:11p13		 uncertain significance
NM_019040.5(ELP4):c.*2556T>C single nucleotide variant not provided [RCV003123297] Chr11:31786080 [GRCh38]
Chr11:31807628 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.50_60dup (p.Leu21fs) duplication Aniridia 1 [RCV003148366] Chr11:31802784..31802785 [GRCh38]
Chr11:31824332..31824333 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.141+2T>A single nucleotide variant not provided [RCV003149241] Chr11:31802702 [GRCh38]
Chr11:31824250 [GRCh37]
Chr11:11p13		 pathogenic
NM_000280.6(PAX6):c.143T>C (p.Val48Ala) single nucleotide variant not provided [RCV002255210] Chr11:31801775 [GRCh38]
Chr11:31823323 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.219G>T (p.Arg73Ser) single nucleotide variant not provided [RCV002288116] Chr11:31801741 [GRCh38]
Chr11:31823289 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.343del (p.Glu115fs) deletion Aniridia 1 [RCV002287279] Chr11:31801617 [GRCh38]
Chr11:31823165 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.734_735del (p.Arg245fs) microsatellite not provided [RCV002269407] Chr11:31794104..31794105 [GRCh38]
Chr11:31815652..31815653 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1231A>T (p.Ile411Phe) single nucleotide variant Aniridia 1 [RCV002290250] Chr11:31790014 [GRCh38]
Chr11:31811562 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.801_807del (p.Ile268fs) deletion Aniridia 1 [RCV002291198] Chr11:31794032..31794038 [GRCh38]
Chr11:31815580..31815586 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.-275G>A single nucleotide variant not provided [RCV002281484] Chr11:31810974 [GRCh38]
Chr11:31832522 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.220T>A (p.Tyr74Asn) single nucleotide variant not provided [RCV002292444] Chr11:31801740 [GRCh38]
Chr11:31823288 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr) single nucleotide variant Aniridia 1 [RCV003097807]|not provided [RCV002292107] Chr11:31802759 [GRCh38]
Chr11:31824307 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.38_41delinsAATCAGC (p.Gly13_Val14delinsGluSerAla) indel Congenital aniridia [RCV002291350] Chr11:31802804..31802807 [GRCh38]
Chr11:31824352..31824355 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.142-3T>C single nucleotide variant Iris coloboma [RCV002291351]|not provided [RCV003317588] Chr11:31801915 [GRCh38]
Chr11:31823463 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.410T>A (p.Ile137Lys) single nucleotide variant Congenital aniridia [RCV002291352] Chr11:31800846 [GRCh38]
Chr11:31822394 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1017del (p.Tyr340fs) deletion Congenital aniridia [RCV002291353] Chr11:31793495 [GRCh38]
Chr11:31815043 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1 copy number loss not provided [RCV002472502] Chr11:31372721..38259316 [GRCh37]
Chr11:11p13-12		 pathogenic
NM_001368894.2(PAX6):c.183C>G (p.Asn61Lys) single nucleotide variant Gillespie syndrome [RCV002472273] Chr11:31801871 [GRCh38]
Chr11:31823419 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p13(chr11:31794997-31822354)x1 copy number loss not provided [RCV002474490] Chr11:31794997..31822354 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p13(chr11:31736984-32119792)x3 copy number gain not provided [RCV002474872] Chr11:31736984..32119792 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.184G>T (p.Val62Leu) single nucleotide variant not provided [RCV002300915] Chr11:31801776 [GRCh38]
Chr11:31823324 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala) single nucleotide variant Aniridia 1 [RCV002301864] Chr11:31793676 [GRCh38]
Chr11:31815224 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.141+3G>A single nucleotide variant Aniridia 1 [RCV002971762] Chr11:31802701 [GRCh38]
Chr11:31824249 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp) single nucleotide variant Aniridia 1 [RCV003074067] Chr11:31790794 [GRCh38]
Chr11:31812342 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1075-8C>T single nucleotide variant Aniridia 1 [RCV002775730] Chr11:31790868 [GRCh38]
Chr11:31812416 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala) single nucleotide variant Aniridia 1 [RCV003017716] Chr11:31801680 [GRCh38]
Chr11:31823228 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser) single nucleotide variant Aniridia 1 [RCV002863142] Chr11:31801601 [GRCh38]
Chr11:31823149 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.807G>A (p.Gln269=) single nucleotide variant Aniridia 1 [RCV003034880] Chr11:31794032 [GRCh38]
Chr11:31815580 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.724+3G>A single nucleotide variant Aniridia 1 [RCV003016410] Chr11:31794627 [GRCh38]
Chr11:31816175 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1074+6T>C single nucleotide variant Aniridia 1 [RCV003015145]|not provided [RCV003326643] Chr11:31793432 [GRCh38]
Chr11:31814980 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.532_542delinsTCGGTA (p.Pro178fs) indel Aniridia 1 [RCV002904211] Chr11:31800714..31800724 [GRCh38]
Chr11:31822262..31822272 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.993A>G (p.Arg331=) single nucleotide variant Aniridia 1 [RCV003012211] Chr11:31793519 [GRCh38]
Chr11:31815067 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln) single nucleotide variant Aniridia 1 [RCV003074949]|Coloboma, ocular, autosomal dominant [RCV003883472]|Irido-corneo-trabecular dysgenesis [RCV003491223] Chr11:31802732 [GRCh38]
Chr11:31824280 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.117del (p.Cys40fs) deletion Aniridia 1 [RCV003014206] Chr11:31802728 [GRCh38]
Chr11:31824276 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.115C>G (p.Pro39Ala) single nucleotide variant Aniridia 1 [RCV003014207] Chr11:31802730 [GRCh38]
Chr11:31824278 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.958+18T>G single nucleotide variant Aniridia 1 [RCV003015142] Chr11:31793634 [GRCh38]
Chr11:31815182 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter) duplication Aniridia 1 [RCV003032812] Chr11:31790831..31790832 [GRCh38]
Chr11:31812379..31812380 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg) single nucleotide variant Aniridia 1 [RCV003014278] Chr11:31801590 [GRCh38]
Chr11:31823138 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.958+18T>C single nucleotide variant Aniridia 1 [RCV002750479] Chr11:31793634 [GRCh38]
Chr11:31815182 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys) single nucleotide variant Aniridia 1 [RCV002617674] Chr11:31794733 [GRCh38]
Chr11:31816281 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.893dup (p.His298fs) duplication Aniridia 1 [RCV002815171] Chr11:31793716..31793717 [GRCh38]
Chr11:31815264..31815265 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.798A>G (p.Ala266=) single nucleotide variant Aniridia 1 [RCV002975056] Chr11:31794041 [GRCh38]
Chr11:31815589 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.463G>A (p.Gly155Ser) single nucleotide variant Aniridia 1 [RCV002953667] Chr11:31800793 [GRCh38]
Chr11:31822341 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.844_848del (p.Glu282fs) microsatellite not provided [RCV002510072] Chr11:31793762..31793766 [GRCh38]
Chr11:31815310..31815314 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1074+4A>G single nucleotide variant Aniridia 1 [RCV002797288] Chr11:31793434 [GRCh38]
Chr11:31814982 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.808-13A>G single nucleotide variant Aniridia 1 [RCV002735552] Chr11:31793815 [GRCh38]
Chr11:31815363 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1074+8C>T single nucleotide variant Aniridia 1 [RCV002795294] Chr11:31793430 [GRCh38]
Chr11:31814978 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=) single nucleotide variant Aniridia 1 [RCV002885693] Chr11:31789952 [GRCh38]
Chr11:31811500 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.598_599insCC (p.Asn200fs) insertion Aniridia 1 [RCV002846733] Chr11:31794755..31794756 [GRCh38]
Chr11:31816303..31816304 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.199G>C (p.Val67Leu) single nucleotide variant Aniridia 1 [RCV003037379] Chr11:31801761 [GRCh38]
Chr11:31823309 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp) single nucleotide variant Aniridia 1 [RCV002760618] Chr11:31800792 [GRCh38]
Chr11:31822340 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.882C>T (p.Asn294=) single nucleotide variant Aniridia 1 [RCV002622388] Chr11:31793728 [GRCh38]
Chr11:31815276 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.27dup (p.Gln10fs) duplication Aniridia 1 [RCV002867485] Chr11:31802817..31802818 [GRCh38]
Chr11:31824365..31824366 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr) single nucleotide variant Aniridia 1 [RCV002780597] Chr11:31793509 [GRCh38]
Chr11:31815057 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs) microsatellite Aniridia 1 [RCV003037377] Chr11:31793510..31793511 [GRCh38]
Chr11:31815058..31815059 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser) single nucleotide variant Aniridia 1 [RCV003037378] Chr11:31801704 [GRCh38]
Chr11:31823252 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1074+16G>A single nucleotide variant Aniridia 1 [RCV002824044] Chr11:31793422 [GRCh38]
Chr11:31814970 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.647T>C (p.Met216Thr) single nucleotide variant Inborn genetic diseases [RCV002887355] Chr11:31794707 [GRCh38]
Chr11:31816255 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser) single nucleotide variant Aniridia 1 [RCV002824883] Chr11:31794670 [GRCh38]
Chr11:31816218 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1168C>A (p.His390Asn) single nucleotide variant Aniridia 1 [RCV002785361] Chr11:31790767 [GRCh38]
Chr11:31812315 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-120_-118dup duplication Aniridia 1 [RCV003054713] Chr11:31806914..31806915 [GRCh38]
Chr11:31828462..31828463 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.566-1G>T single nucleotide variant Aniridia 1 [RCV003054437] Chr11:31794789 [GRCh38]
Chr11:31816337 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.621C>T (p.Asn207=) single nucleotide variant Aniridia 1 [RCV003058778] Chr11:31794733 [GRCh38]
Chr11:31816281 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.416G>A (p.Arg139Lys) single nucleotide variant Inborn genetic diseases [RCV002830934] Chr11:31800840 [GRCh38]
Chr11:31822388 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.741T>C (p.His247=) single nucleotide variant Aniridia 1 [RCV002624167] Chr11:31794098 [GRCh38]
Chr11:31815646 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.279G>A (p.Ala93=) single nucleotide variant Aniridia 1 [RCV002667809] Chr11:31801681 [GRCh38]
Chr11:31823229 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.762A>G (p.Arg254=) single nucleotide variant Aniridia 1 [RCV002791439] Chr11:31794077 [GRCh38]
Chr11:31815625 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.10+13G>A single nucleotide variant Aniridia 1 [RCV002790221] Chr11:31806389 [GRCh38]
Chr11:31827937 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.724+16A>G single nucleotide variant Aniridia 1 [RCV002932642] Chr11:31794614 [GRCh38]
Chr11:31816162 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1225+5G>T single nucleotide variant Aniridia 1 [RCV002871967] Chr11:31790705 [GRCh38]
Chr11:31812253 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.225C>T (p.Tyr75=) single nucleotide variant Aniridia 1 [RCV002623900] Chr11:31801735 [GRCh38]
Chr11:31823283 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.114del (p.Pro39fs) deletion Aniridia 1 [RCV003024031] Chr11:31802731 [GRCh38]
Chr11:31824279 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro) single nucleotide variant Aniridia 1 [RCV002801290] Chr11:31801610 [GRCh38]
Chr11:31823158 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1182C>G (p.His394Gln) single nucleotide variant Aniridia 1 [RCV003005362] Chr11:31790753 [GRCh38]
Chr11:31812301 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1029G>T (p.Leu343=) single nucleotide variant Aniridia 1 [RCV002851832] Chr11:31793483 [GRCh38]
Chr11:31815031 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.951C>T (p.Thr317=) single nucleotide variant Aniridia 1 [RCV002871914] Chr11:31793659 [GRCh38]
Chr11:31815207 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1017C>T (p.Thr339=) single nucleotide variant Aniridia 1 [RCV003085445] Chr11:31793495 [GRCh38]
Chr11:31815043 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr) single nucleotide variant Aniridia 1 [RCV002801333] Chr11:31800840 [GRCh38]
Chr11:31822388 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.939dup (p.Pro314fs) duplication Aniridia 1 [RCV002919034] Chr11:31793670..31793671 [GRCh38]
Chr11:31815218..31815219 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp) single nucleotide variant Aniridia 1 [RCV003058300] Chr11:31802793 [GRCh38]
Chr11:31824341 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.803dup (p.Gln269fs) duplication Aniridia 1 [RCV002829659] Chr11:31794035..31794036 [GRCh38]
Chr11:31815583..31815584 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.141+19C>T single nucleotide variant Aniridia 1 [RCV003086693] Chr11:31802685 [GRCh38]
Chr11:31824233 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.399+18A>G single nucleotide variant Aniridia 1 [RCV002651283] Chr11:31801543 [GRCh38]
Chr11:31823091 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.10+5G>T single nucleotide variant Aniridia 1 [RCV003066027] Chr11:31806397 [GRCh38]
Chr11:31827945 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.81G>C (p.Gln27His) single nucleotide variant Aniridia 1 [RCV002811622] Chr11:31802764 [GRCh38]
Chr11:31824312 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.66_75dup (p.Arg26fs) duplication Aniridia 1 [RCV002807217] Chr11:31802769..31802770 [GRCh38]
Chr11:31824317..31824318 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs) duplication Aniridia 1 [RCV003062354] Chr11:31802727..31802728 [GRCh38]
Chr11:31824275..31824276 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.399+9A>G single nucleotide variant Aniridia 1 [RCV003011086] Chr11:31801552 [GRCh38]
Chr11:31823100 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro) single nucleotide variant Aniridia 1 [RCV002632616] Chr11:31802732 [GRCh38]
Chr11:31824280 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.478C>G (p.Leu160Val) single nucleotide variant Aniridia 1 [RCV003048924] Chr11:31800778 [GRCh38]
Chr11:31822326 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.10+1G>A single nucleotide variant Aniridia 1 [RCV003062355] Chr11:31806401 [GRCh38]
Chr11:31827949 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile) single nucleotide variant Aniridia 1 [RCV002933491] Chr11:31790781 [GRCh38]
Chr11:31812329 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.724+8_724+9del microsatellite Aniridia 1 [RCV002832884] Chr11:31794621..31794622 [GRCh38]
Chr11:31816169..31816170 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.534G>A (p.Pro178=) single nucleotide variant Aniridia 1 [RCV002600049] Chr11:31800722 [GRCh38]
Chr11:31822270 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.808-19del deletion Aniridia 1 [RCV003028682] Chr11:31793821 [GRCh38]
Chr11:31815369 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp) single nucleotide variant Aniridia 1 [RCV002856977] Chr11:31801762 [GRCh38]
Chr11:31823310 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=) single nucleotide variant Aniridia 1 [RCV003028273] Chr11:31789958 [GRCh38]
Chr11:31811506 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly) single nucleotide variant Aniridia 1 [RCV003029603] Chr11:31801775 [GRCh38]
Chr11:31823323 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=) single nucleotide variant Aniridia 1 [RCV002988479]|PAX6-related disorder [RCV004536509] Chr11:31789979 [GRCh38]
Chr11:31811527 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val) single nucleotide variant Aniridia 1 [RCV002963212] Chr11:31800744 [GRCh38]
Chr11:31822292 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr) single nucleotide variant Aniridia 1 [RCV002806654] Chr11:31801623 [GRCh38]
Chr11:31823171 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter) single nucleotide variant Aniridia 1 [RCV003062353] Chr11:31801641 [GRCh38]
Chr11:31823189 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter) single nucleotide variant Aniridia 1 [RCV003062356] Chr11:31806408 [GRCh38]
Chr11:31827956 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.400-18T>G single nucleotide variant Aniridia 1 [RCV002599342] Chr11:31800874 [GRCh38]
Chr11:31822422 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.560del (p.Thr187fs) deletion Aniridia 1 [RCV003028730] Chr11:31800696 [GRCh38]
Chr11:31822244 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.518G>A (p.Arg173His) single nucleotide variant Aniridia 1 [RCV003044179] Chr11:31800738 [GRCh38]
Chr11:31822286 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.339T>C (p.Ala113=) single nucleotide variant Aniridia 1 [RCV002943497] Chr11:31801621 [GRCh38]
Chr11:31823169 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.808-15C>T single nucleotide variant Aniridia 1 [RCV003066820] Chr11:31793817 [GRCh38]
Chr11:31815365 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.651A>G (p.Arg217=) single nucleotide variant Aniridia 1 [RCV002583438] Chr11:31794703 [GRCh38]
Chr11:31816251 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.492C>T (p.Asn164=) single nucleotide variant Aniridia 1 [RCV002943389] Chr11:31800764 [GRCh38]
Chr11:31822312 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.555A>G (p.Gln185=) single nucleotide variant Aniridia 1 [RCV002587478] Chr11:31800701 [GRCh38]
Chr11:31822249 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.960T>C (p.Val320=) single nucleotide variant Aniridia 1 [RCV002607450] Chr11:31793552 [GRCh38]
Chr11:31815100 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.787_807+102del deletion Aniridia 1 [RCV003051754] Chr11:31793930..31794052 [GRCh38]
Chr11:31815478..31815600 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.691T>C (p.Phe231Leu) single nucleotide variant Inborn genetic diseases [RCV002678773] Chr11:31794663 [GRCh38]
Chr11:31816211 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.918C>T (p.Ser306=) single nucleotide variant Aniridia 1 [RCV002607177] Chr11:31793692 [GRCh38]
Chr11:31815240 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1041C>T (p.Pro347=) single nucleotide variant Aniridia 1 [RCV002612967] Chr11:31793471 [GRCh38]
Chr11:31815019 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe) single nucleotide variant Aniridia 1 [RCV002609230] Chr11:31801587 [GRCh38]
Chr11:31823135 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile) single nucleotide variant Aniridia 1 [RCV002612188] Chr11:31802757 [GRCh38]
Chr11:31824305 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.-284G>A single nucleotide variant not provided [RCV003129400] Chr11:31810983 [GRCh38]
Chr11:31832531 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala) single nucleotide variant Aniridia 1 [RCV003779697]|Inborn genetic diseases [RCV003194280] Chr11:31790776 [GRCh38]
Chr11:31812324 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.302T>G (p.Ile101Arg) single nucleotide variant not provided [RCV003224010] Chr11:31801658 [GRCh38]
Chr11:31823206 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.920C>G (p.Thr307Ser) single nucleotide variant Inborn genetic diseases [RCV003200043] Chr11:31793690 [GRCh38]
Chr11:31815238 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1225+1_1225+8delinsC indel not provided [RCV003323001] Chr11:31790702..31790709 [GRCh38]
Chr11:31812250..31812257 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs) duplication Aniridia 1 [RCV003326663] Chr11:31789960..31789961 [GRCh38]
Chr11:31811508..31811509 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1018dup (p.Tyr340fs) duplication Aniridia 1 [RCV003326662] Chr11:31793493..31793494 [GRCh38]
Chr11:31815041..31815042 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1072C>T (p.Gln358Ter) single nucleotide variant Aniridia 1 [RCV003387621] Chr11:31793440 [GRCh38]
Chr11:31814988 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.844_845dup (p.Glu283fs) microsatellite not provided [RCV003456770] Chr11:31793764..31793765 [GRCh38]
Chr11:31815312..31815313 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.458C>T (p.Ala153Val) single nucleotide variant PAX6-related disorder [RCV004531534] Chr11:31800798 [GRCh38]
Chr11:31822346 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.11-753G>A single nucleotide variant not provided [RCV003390033] Chr11:31803587 [GRCh38]
Chr11:31825135 [GRCh37]
Chr11:11p13		 benign
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu) single nucleotide variant Aniridia 1 [RCV003778377]|not provided [RCV003394796] Chr11:31794724 [GRCh38]
Chr11:31816272 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.199G>A (p.Val67Met) single nucleotide variant PAX6-related disorder [RCV004534399] Chr11:31801761 [GRCh38]
Chr11:31823309 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.295A>G (p.Ser99Gly) single nucleotide variant not provided [RCV003390032] Chr11:31801665 [GRCh38]
Chr11:31823213 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter) single nucleotide variant Aniridia 1 [RCV003783564] Chr11:31800760 [GRCh38]
Chr11:31822308 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.44_45del (p.Phe15fs) deletion Aniridia 1 [RCV003783565] Chr11:31802800..31802801 [GRCh38]
Chr11:31824348..31824349 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys) single nucleotide variant Aniridia 1 [RCV003795119] Chr11:31801593 [GRCh38]
Chr11:31823141 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr) single nucleotide variant Irido-corneo-trabecular dysgenesis [RCV003491359] Chr11:31794094 [GRCh38]
Chr11:31815642 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.10+11C>A single nucleotide variant Aniridia 1 [RCV003791665] Chr11:31806391 [GRCh38]
Chr11:31827939 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.255C>T (p.Ile85=) single nucleotide variant Aniridia 1 [RCV003806105] Chr11:31801705 [GRCh38]
Chr11:31823253 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1075-3C>A single nucleotide variant Aniridia 1 [RCV003792145] Chr11:31790863 [GRCh38]
Chr11:31812411 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1038dup (p.Pro347fs) duplication Aniridia 1 [RCV003805306] Chr11:31793473..31793474 [GRCh38]
Chr11:31815021..31815022 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter) single nucleotide variant Aniridia 1 [RCV003783563] Chr11:31794732 [GRCh38]
Chr11:31816280 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu) single nucleotide variant Aniridia 1 [RCV003804916] Chr11:31802721 [GRCh38]
Chr11:31824269 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn) single nucleotide variant Aniridia 1 [RCV003785487] Chr11:31793732 [GRCh38]
Chr11:31815280 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.33C>T (p.Leu11=) single nucleotide variant Aniridia 1 [RCV003796712] Chr11:31802812 [GRCh38]
Chr11:31824360 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.42C>T (p.Val14=) single nucleotide variant Aniridia 1 [RCV003806769] Chr11:31802803 [GRCh38]
Chr11:31824351 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.735A>G (p.Arg245=) single nucleotide variant Aniridia 1 [RCV003806817] Chr11:31794104 [GRCh38]
Chr11:31815652 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.565+17C>T single nucleotide variant Aniridia 1 [RCV003805091] Chr11:31800674 [GRCh38]
Chr11:31822222 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile) single nucleotide variant Aniridia 1 [RCV003790532] Chr11:31790750 [GRCh38]
Chr11:31812298 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu) single nucleotide variant Aniridia 1 [RCV003796658] Chr11:31793481 [GRCh38]
Chr11:31815029 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.47del (p.Val16fs) deletion Aniridia 1 [RCV003806768] Chr11:31802798 [GRCh38]
Chr11:31824346 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.724+7G>C single nucleotide variant Aniridia 1 [RCV003787521] Chr11:31794623 [GRCh38]
Chr11:31816171 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.591G>A (p.Gly197=) single nucleotide variant Aniridia 1 [RCV003785606]|PAX6-related disorder [RCV004539120] Chr11:31794763 [GRCh38]
Chr11:31816311 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.808-19T>C single nucleotide variant Aniridia 1 [RCV003794052] Chr11:31793821 [GRCh38]
Chr11:31815369 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.725-14A>G single nucleotide variant Aniridia 1 [RCV003786945] Chr11:31794128 [GRCh38]
Chr11:31815676 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.808-18G>A single nucleotide variant Aniridia 1 [RCV003792719] Chr11:31793820 [GRCh38]
Chr11:31815368 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser) single nucleotide variant Aniridia 1 [RCV003790462] Chr11:31802787 [GRCh38]
Chr11:31824335 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.992dup (p.Thr332fs) duplication Aniridia 1 [RCV003792148] Chr11:31793519..31793520 [GRCh38]
Chr11:31815067..31815068 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.724+14T>A single nucleotide variant not specified [RCV003489701] Chr11:31794616 [GRCh38]
Chr11:31816164 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.270G>A (p.Pro90=) single nucleotide variant Aniridia 1 [RCV003779484] Chr11:31801690 [GRCh38]
Chr11:31823238 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.593G>T (p.Gly198Val) single nucleotide variant Aniridia 1 [RCV003782081] Chr11:31794761 [GRCh38]
Chr11:31816309 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.399C>T (p.Ser133=) single nucleotide variant Aniridia 1 [RCV003787639] Chr11:31801561 [GRCh38]
Chr11:31823109 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=) single nucleotide variant Aniridia 1 [RCV003783170] Chr11:31790816 [GRCh38]
Chr11:31812364 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser) single nucleotide variant Aniridia 1 [RCV003789694] Chr11:31790860 [GRCh38]
Chr11:31812408 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala) single nucleotide variant Aniridia 1 [RCV003800869] Chr11:31801703 [GRCh38]
Chr11:31823251 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.400G>A (p.Val134Met) single nucleotide variant Developmental disorder [RCV003764457]|Isolated optic nerve hypoplasia [RCV004527464] Chr11:31800856 [GRCh38]
Chr11:31822404 [GRCh37]
Chr11:11p13		 likely pathogenic|uncertain significance
NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp) single nucleotide variant Aniridia 1 [RCV003812776]|Inborn genetic diseases [RCV004366686] Chr11:31794769 [GRCh38]
Chr11:31816317 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1226-7C>T single nucleotide variant Aniridia 1 [RCV003808733] Chr11:31790026 [GRCh38]
Chr11:31811574 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.725-8T>A single nucleotide variant Aniridia 1 [RCV003809986] Chr11:31794122 [GRCh38]
Chr11:31815670 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.469dup (p.Tyr157fs) duplication Aniridia 1 [RCV003817875] Chr11:31800786..31800787 [GRCh38]
Chr11:31822334..31822335 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys) single nucleotide variant Aniridia 1 [RCV003801758] Chr11:31794711 [GRCh38]
Chr11:31816259 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.237C>T (p.Ser79=) single nucleotide variant Aniridia 1 [RCV003801584] Chr11:31801723 [GRCh38]
Chr11:31823271 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys) single nucleotide variant Aniridia 1 [RCV003809093] Chr11:31794780 [GRCh38]
Chr11:31816328 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.959-3_959-2del deletion Aniridia 1 [RCV003801616] Chr11:31793555..31793556 [GRCh38]
Chr11:31815103..31815104 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.724+20T>C single nucleotide variant Aniridia 1 [RCV003798570] Chr11:31794610 [GRCh38]
Chr11:31816158 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu) single nucleotide variant Aniridia 1 [RCV003809859] Chr11:31801766 [GRCh38]
Chr11:31823314 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro) single nucleotide variant Aniridia 1 [RCV003813325] Chr11:31802736 [GRCh38]
Chr11:31824284 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser) single nucleotide variant Aniridia 1 [RCV003810200] Chr11:31793798 [GRCh38]
Chr11:31815346 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.11-20T>C single nucleotide variant Aniridia 1 [RCV003798849] Chr11:31802854 [GRCh38]
Chr11:31824402 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly) single nucleotide variant Aniridia 1 [RCV003815288] Chr11:31800841 [GRCh38]
Chr11:31822389 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.184-5T>C single nucleotide variant Aniridia 1 [RCV003800035] Chr11:31801781 [GRCh38]
Chr11:31823329 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.102del (p.His34fs) deletion Aniridia 1 [RCV003802350] Chr11:31802743 [GRCh38]
Chr11:31824291 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p13(chr11:31723662-31986580)x3 copy number gain not specified [RCV003986935] Chr11:31723662..31986580 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.274G>C (p.Val92Leu) single nucleotide variant Aniridia 1 [RCV003803071] Chr11:31801686 [GRCh38]
Chr11:31823234 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.724+1G>A single nucleotide variant Aniridia 1 [RCV003803251] Chr11:31794629 [GRCh38]
Chr11:31816177 [GRCh37]
Chr11:11p13		 likely pathogenic
NM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer) insertion Aniridia 1 [RCV003802351] Chr11:31806402..31806403 [GRCh38]
Chr11:31827950..31827951 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr) single nucleotide variant Aniridia 1 [RCV003802867] Chr11:31801583 [GRCh38]
Chr11:31823131 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.1211_1225+1del deletion Aniridia 1 [RCV003988952] Chr11:31790709..31790724 [GRCh38]
Chr11:31812257..31812272 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.809T>C (p.Val270Ala) single nucleotide variant Coloboma, ocular, autosomal dominant [RCV003883473] Chr11:31793801 [GRCh38]
Chr11:31815349 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1074+140G>A single nucleotide variant PAX6-related disorder [RCV004539285] Chr11:31793298 [GRCh38]
Chr11:31814846 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.204T>G (p.Ser68Arg) single nucleotide variant Coloboma, ocular, autosomal dominant [RCV003883477] Chr11:31801756 [GRCh38]
Chr11:31823304 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.77G>A (p.Arg26Gln) single nucleotide variant Aniridia 1 [RCV004560325]|Coloboma, ocular, autosomal dominant [RCV003883478] Chr11:31802768 [GRCh38]
Chr11:31824316 [GRCh37]
Chr11:11p13		 pathogenic|likely pathogenic
NM_001368894.2(PAX6):c.1074+138T>C single nucleotide variant PAX6-related disorder [RCV004532183] Chr11:31793300 [GRCh38]
Chr11:31814848 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.173A>G (p.Asp58Gly) single nucleotide variant PAX6-related disorder [RCV004542323] Chr11:31801881 [GRCh38]
Chr11:31823429 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.311A>G (p.Tyr104Cys) single nucleotide variant Aniridia 1 [RCV004556924] Chr11:31801649 [GRCh38]
Chr11:31823197 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.609del (p.Ile204fs) deletion PAX6-related disorder [RCV004544161] Chr11:31794745 [GRCh38]
Chr11:31816293 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.414C>A (p.Asn138Lys) single nucleotide variant Coloboma, ocular, autosomal dominant [RCV003883474] Chr11:31800842 [GRCh38]
Chr11:31822390 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.202A>C (p.Ser68Arg) single nucleotide variant Coloboma, ocular, autosomal dominant [RCV003883476] Chr11:31801758 [GRCh38]
Chr11:31823306 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.528dup (p.Tyr177fs) duplication Aniridia 1 [RCV004555300] Chr11:31800727..31800728 [GRCh38]
Chr11:31822275..31822276 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.414C>G (p.Asn138Lys) single nucleotide variant Coloboma, ocular, autosomal dominant [RCV003883475] Chr11:31800842 [GRCh38]
Chr11:31822390 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1253del (p.Pro418fs) deletion Aniridia 1 [RCV003985682] Chr11:31789992 [GRCh38]
Chr11:31811540 [GRCh37]
Chr11:11p13		 not provided
NM_001368894.2(PAX6):c.1074+114C>T single nucleotide variant PAX6-related disorder [RCV004539358] Chr11:31793324 [GRCh38]
Chr11:31814872 [GRCh37]
Chr11:11p13		 likely benign
NM_001368894.2(PAX6):c.1173G>A (p.Met391Ile) single nucleotide variant Inborn genetic diseases [RCV004502878] Chr11:31790762 [GRCh38]
Chr11:31812310 [GRCh37]
Chr11:11p13		 uncertain significance
NM_001368894.2(PAX6):c.18C>A (p.Ser6Arg) single nucleotide variant Inborn genetic diseases [RCV004502879] Chr11:31802827 [GRCh38]
Chr11:31824375 [GRCh37]
Chr11:11p13		 uncertain significance
NC_000011.9:g.(?_31824327)_(31826319_?)del deletion Aniridia 1 [RCV004580173] Chr11:31824327..31826319 [GRCh37] likely pathogenic
NC_000011.9:g.(?_31809861)_(31814853_?)del deletion Aniridia 1 [RCV004580174] Chr11:31809861..31814853 [GRCh37] pathogenic
NC_000011.9:g.(?_31807092)_(31832375_?)del deletion Aniridia 1 [RCV004580169] Chr11:31807092..31832375 [GRCh37] pathogenic
NC_000011.9:g.(?_31349644)_(31832375_?)del deletion not provided [RCV004580379] Chr11:31349644..31832375 [GRCh37] uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7842
Count of miRNA genes:1460
Interacting mature miRNAs:1959
Transcripts:ENST00000241001, ENST00000379107, ENST00000379109, ENST00000379111, ENST00000379115, ENST00000379123, ENST00000379129, ENST00000379132, ENST00000419022, ENST00000423822, ENST00000438681, ENST00000455099, ENST00000464174, ENST00000470027, ENST00000471303, ENST00000474783, ENST00000481563, ENST00000494377, ENST00000524853, ENST00000525535, ENST00000527769, ENST00000530373, ENST00000530714, ENST00000531910, ENST00000532175, ENST00000532916, ENST00000533156, ENST00000533333, ENST00000534353, ENST00000534390
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576345LVC1_HLeft ventricular contractility QTL 1 (human)3.93Left ventricular contractility11797076733970767Human
1559104SCL15_HSerum cholesterol level QTL 15 (human)2.60.06Lipid levelhyperlipidemia susceptibility111589236841892368Human

Markers in Region
RH119890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,830,234 - 31,830,519UniSTSGRCh37
Build 361131,786,810 - 31,787,095RGDNCBI36
Celera1131,977,685 - 31,977,970RGD
Cytogenetic Map11p13UniSTS
HuRef1131,525,990 - 31,526,275UniSTS
TNG Radiation Hybrid Map1115039.0UniSTS
GDB:197570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,811,511 - 31,812,350UniSTSGRCh37
Build 361131,768,087 - 31,768,926RGDNCBI36
Celera1131,958,974 - 31,959,813RGD
Cytogenetic Map11p13UniSTS
HuRef1131,506,937 - 31,507,775UniSTS
GDB:215731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,815,845 - 31,816,135UniSTSGRCh37
Build 361131,772,421 - 31,772,711RGDNCBI36
Celera1131,963,309 - 31,963,579RGD
Cytogenetic Map11p13UniSTS
HuRef1131,511,251 - 31,511,521UniSTS
GDB:316221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,815,201 - 31,815,348UniSTSGRCh37
Build 361131,771,777 - 31,771,924RGDNCBI36
Celera1131,962,665 - 31,962,812RGD
Cytogenetic Map11p13UniSTS
HuRef1131,510,607 - 31,510,754UniSTS
GDB:344354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,824,252 - 31,824,382UniSTSGRCh37
Build 361131,780,828 - 31,780,958RGDNCBI36
Celera1131,971,701 - 31,971,831RGD
Cytogenetic Map11p13UniSTS
HuRef1131,520,006 - 31,520,136UniSTS
GDB:344736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,822,239 - 31,822,447UniSTSGRCh37
Build 361131,778,815 - 31,779,023RGDNCBI36
Celera1131,969,688 - 31,969,896RGD
Cytogenetic Map11p13UniSTS
HuRef1131,517,993 - 31,518,201UniSTS
UniSTS:466070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,824,254 - 31,824,365UniSTSGRCh37
Build 361131,780,830 - 31,780,941RGDNCBI36
Celera1131,971,703 - 31,971,814RGD
HuRef1131,520,008 - 31,520,119UniSTS
PAX6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,822,196 - 31,822,447UniSTSGRCh37
Build 361131,778,772 - 31,779,023RGDNCBI36
Celera1131,969,645 - 31,969,896RGD
Cytogenetic Map11p13UniSTS
HuRef1131,517,950 - 31,518,201UniSTS
GeneMap99-GB4 RH Map11115.99UniSTS
RH46063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,810,278 - 31,810,409UniSTSGRCh37
Build 361131,766,854 - 31,766,985RGDNCBI36
Celera1131,957,741 - 31,957,872RGD
Cytogenetic Map11p13UniSTS
HuRef1131,505,704 - 31,505,835UniSTS
GeneMap99-GB4 RH Map11115.88UniSTS
RH79881  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p13UniSTS
RH78222  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p13UniSTS
D12Bir2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,823,274 - 31,824,370UniSTSGRCh37
Celera1131,970,723 - 31,971,819UniSTS
HuRef1131,519,028 - 31,520,124UniSTS


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 3 5 4 4 4 5 494 1 15 28
Low 112 3 336 33 203 34 174 34 2463 211 544 193 11 1 1 33
Below cutoff 1979 2089 999 398 840 272 3611 1672 624 146 711 961 127 940 2391 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001310158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001310159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001310160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001310161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF548390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH014790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY047583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY289493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY337852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY337853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY342394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY485787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY485788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY707088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE221553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI789171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI816814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM313099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM557761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM666662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM725029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP394398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP394576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU072567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX089704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX114225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX440968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA397106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA397536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD673930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV569250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA056636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA078958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA079367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA089215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA141443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA183294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA571138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ251037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ251038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ251039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ251040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F07809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ141695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ397714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP255960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT580798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT580799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M93650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW791985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW791986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW791987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW791988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW791989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW791990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW791991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW791992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U63833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z95332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000241001   ⟹   ENSP00000241001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,913 - 31,817,938 (-)Ensembl
Ensembl Acc Id: ENST00000379107   ⟹   ENSP00000368401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,194 - 31,810,305 (-)Ensembl
Ensembl Acc Id: ENST00000379109   ⟹   ENSP00000368403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,788,911 - 31,810,667 (-)Ensembl
Ensembl Acc Id: ENST00000379111   ⟹   ENSP00000368406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,946 - 31,811,952 (-)Ensembl
Ensembl Acc Id: ENST00000379115   ⟹   ENSP00000368410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,727 - 31,811,322 (-)Ensembl
Ensembl Acc Id: ENST00000379123   ⟹   ENSP00000368418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,947 - 31,811,322 (-)Ensembl
Ensembl Acc Id: ENST00000379129   ⟹   ENSP00000368424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,788,912 - 31,817,961 (-)Ensembl
Ensembl Acc Id: ENST00000379132   ⟹   ENSP00000368427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,788,908 - 31,817,961 (-)Ensembl
Ensembl Acc Id: ENST00000419022   ⟹   ENSP00000404100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,784,792 - 31,811,331 (-)Ensembl
Ensembl Acc Id: ENST00000423822   ⟹   ENSP00000388132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,941 - 31,817,910 (-)Ensembl
Ensembl Acc Id: ENST00000438681   ⟹   ENSP00000404356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,774 - 31,811,231 (-)Ensembl
Ensembl Acc Id: ENST00000455099   ⟹   ENSP00000397384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,794,630 - 31,811,689 (-)Ensembl
Ensembl Acc Id: ENST00000464174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,947 - 31,800,651 (-)Ensembl
Ensembl Acc Id: ENST00000470027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,936 - 31,804,460 (-)Ensembl
Ensembl Acc Id: ENST00000471303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,946 - 31,811,121 (-)Ensembl
Ensembl Acc Id: ENST00000474783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,918 - 31,811,328 (-)Ensembl
Ensembl Acc Id: ENST00000481563   ⟹   ENSP00000492205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,934 - 31,804,237 (-)Ensembl
Ensembl Acc Id: ENST00000494377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,947 - 31,802,946 (-)Ensembl
Ensembl Acc Id: ENST00000524853   ⟹   ENSP00000431585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,951 - 31,812,745 (-)Ensembl
Ensembl Acc Id: ENST00000525535   ⟹   ENSP00000436365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,806,402 - 31,812,829 (-)Ensembl
Ensembl Acc Id: ENST00000527769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,806,344 - 31,811,118 (-)Ensembl
Ensembl Acc Id: ENST00000530373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,718 - 31,800,667 (-)Ensembl
Ensembl Acc Id: ENST00000530714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,801,464 - 31,803,673 (-)Ensembl
Ensembl Acc Id: ENST00000531910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,793,219 - 31,802,014 (-)Ensembl
Ensembl Acc Id: ENST00000532175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,806,344 - 31,817,948 (-)Ensembl
Ensembl Acc Id: ENST00000532916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,793,173 - 31,794,126 (-)Ensembl
Ensembl Acc Id: ENST00000533156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,801,727 - 31,806,013 (-)Ensembl
Ensembl Acc Id: ENST00000533333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,936 - 31,811,308 (-)Ensembl
Ensembl Acc Id: ENST00000534353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,801,578 - 31,804,619 (-)Ensembl
Ensembl Acc Id: ENST00000534390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,802,740 - 31,806,884 (-)Ensembl
Ensembl Acc Id: ENST00000606377   ⟹   ENSP00000480026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,784,779 - 31,811,121 (-)Ensembl
Ensembl Acc Id: ENST00000638250   ⟹   ENSP00000491365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,947 - 31,811,057 (-)Ensembl
Ensembl Acc Id: ENST00000638278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,809,746 - 31,810,162 (-)Ensembl
Ensembl Acc Id: ENST00000638346   ⟹   ENSP00000491267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,014 - 31,804,267 (-)Ensembl
Ensembl Acc Id: ENST00000638629   ⟹   ENSP00000490971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,934 - 31,804,046 (-)Ensembl
Ensembl Acc Id: ENST00000638685   ⟹   ENSP00000492316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,026 - 31,812,823 (-)Ensembl
Ensembl Acc Id: ENST00000638696   ⟹   ENSP00000492756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,934 - 31,806,411 (-)Ensembl
Ensembl Acc Id: ENST00000638755   ⟹   ENSP00000492181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,934 - 31,806,411 (-)Ensembl
Ensembl Acc Id: ENST00000638762   ⟹   ENSP00000491517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,769 - 31,804,258 (-)Ensembl
Ensembl Acc Id: ENST00000638802   ⟹   ENSP00000492437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,006 - 31,803,673 (-)Ensembl
Ensembl Acc Id: ENST00000638853   ⟹   ENSP00000491280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,962 - 31,805,467 (-)Ensembl
Ensembl Acc Id: ENST00000638878   ⟹   ENSP00000492081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,790 - 31,803,673 (-)Ensembl
Ensembl Acc Id: ENST00000638913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,962 - 31,811,341 (-)Ensembl
Ensembl Acc Id: ENST00000638914   ⟹   ENSP00000492315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,784,792 - 31,817,961 (-)Ensembl
Ensembl Acc Id: ENST00000638963   ⟹   ENSP00000491948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,517 - 31,806,456 (-)Ensembl
Ensembl Acc Id: ENST00000638965   ⟹   ENSP00000492769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,830 - 31,817,937 (-)Ensembl
Ensembl Acc Id: ENST00000639006   ⟹   ENSP00000491210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,738 - 31,803,620 (-)Ensembl
Ensembl Acc Id: ENST00000639034   ⟹   ENSP00000491679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,793,209 - 31,811,331 (-)Ensembl
Ensembl Acc Id: ENST00000639054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,762 - 31,811,118 (-)Ensembl
Ensembl Acc Id: ENST00000639061   ⟹   ENSP00000491324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,946 - 31,803,245 (-)Ensembl
Ensembl Acc Id: ENST00000639079   ⟹   ENSP00000492129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,793,273 - 31,804,255 (-)Ensembl
Ensembl Acc Id: ENST00000639109   ⟹   ENSP00000491904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,962 - 31,804,006 (-)Ensembl
Ensembl Acc Id: ENST00000639203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,810,871 - 31,811,663 (-)Ensembl
Ensembl Acc Id: ENST00000639386   ⟹   ENSP00000492658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,784,792 - 31,804,059 (-)Ensembl
Ensembl Acc Id: ENST00000639394   ⟹   ENSP00000492177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,957 - 31,811,068 (-)Ensembl
Ensembl Acc Id: ENST00000639409   ⟹   ENSP00000492476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,202 - 31,812,183 (-)Ensembl
Ensembl Acc Id: ENST00000639548   ⟹   ENSP00000491944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,934 - 31,804,175 (-)Ensembl
Ensembl Acc Id: ENST00000639916   ⟹   ENSP00000490963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,026 - 31,811,144 (-)Ensembl
Ensembl Acc Id: ENST00000639920   ⟹   ENSP00000492111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,801,742 - 31,807,619 (-)Ensembl
Ensembl Acc Id: ENST00000639943   ⟹   ENSP00000491229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,791 - 31,808,802 (-)Ensembl
Ensembl Acc Id: ENST00000639950   ⟹   ENSP00000491862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,946 - 31,813,131 (-)Ensembl
Ensembl Acc Id: ENST00000640038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,949 - 31,794,323 (-)Ensembl
Ensembl Acc Id: ENST00000640125   ⟹   ENSP00000492166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,934 - 31,804,175 (-)Ensembl
Ensembl Acc Id: ENST00000640172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,793,224 - 31,811,331 (-)Ensembl
Ensembl Acc Id: ENST00000640242   ⟹   ENSP00000492409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,793,449 - 31,811,114 (-)Ensembl
Ensembl Acc Id: ENST00000640251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,806,431 - 31,811,270 (-)Ensembl
Ensembl Acc Id: ENST00000640287   ⟹   ENSP00000492822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,936 - 31,806,629 (-)Ensembl
Ensembl Acc Id: ENST00000640335   ⟹   ENSP00000492808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,763 - 31,810,124 (-)Ensembl
Ensembl Acc Id: ENST00000640368   ⟹   ENSP00000492024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,026 - 31,811,322 (-)Ensembl
Ensembl Acc Id: ENST00000640431   ⟹   ENSP00000491779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,790,823 - 31,814,976 (-)Ensembl
Ensembl Acc Id: ENST00000640460   ⟹   ENSP00000492802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,962 - 31,807,656 (-)Ensembl
Ensembl Acc Id: ENST00000640610   ⟹   ENSP00000491295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,788,908 - 31,811,331 (-)Ensembl
Ensembl Acc Id: ENST00000640613   ⟹   ENSP00000492587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,938 - 31,811,118 (-)Ensembl
Ensembl Acc Id: ENST00000640617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,810,343 - 31,810,924 (-)Ensembl
Ensembl Acc Id: ENST00000640684   ⟹   ENSP00000491492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,793,247 - 31,810,991 (-)Ensembl
Ensembl Acc Id: ENST00000640735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,962 - 31,801,992 (-)Ensembl
Ensembl Acc Id: ENST00000640766   ⟹   ENSP00000491214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,946 - 31,805,795 (-)Ensembl
Ensembl Acc Id: ENST00000640819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,810,901 - 31,817,932 (-)Ensembl
Ensembl Acc Id: ENST00000640872   ⟹   ENSP00000491065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,952 - 31,803,960 (-)Ensembl
Ensembl Acc Id: ENST00000640963   ⟹   ENSP00000492397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,946 - 31,806,916 (-)Ensembl
Ensembl Acc Id: ENST00000640975   ⟹   ENSP00000491872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,789,202 - 31,812,342 (-)Ensembl
Ensembl Acc Id: ENST00000643871   ⟹   ENSP00000495109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,784,792 - 31,811,331 (-)Ensembl
RefSeq Acc Id: NM_000280   ⟹   NP_000271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
GRCh371131,806,340 - 31,839,509 (-)ENTREZGENE
Build 361131,767,034 - 31,789,434 (-)NCBI Archive
HuRef1131,501,758 - 31,535,259 (-)ENTREZGENE
CHM1_11131,805,847 - 31,832,419 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127612   ⟹   NP_001121084
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,817,961 (-)NCBI
GRCh371131,806,340 - 31,839,509 (-)ENTREZGENE
HuRef1131,501,758 - 31,535,259 (-)ENTREZGENE
CHM1_11131,805,847 - 31,839,030 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258462   ⟹   NP_001245391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,817,961 (-)NCBI
GRCh371131,806,340 - 31,839,509 (-)NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBI
CHM1_11131,805,847 - 31,839,030 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258463   ⟹   NP_001245392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,812,203 (-)NCBI
GRCh371131,806,340 - 31,839,509 (-)NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBI
CHM1_11131,805,847 - 31,833,249 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,948,010 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258464   ⟹   NP_001245393
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
GRCh371131,806,340 - 31,839,509 (-)NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBI
CHM1_11131,805,847 - 31,832,419 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258465   ⟹   NP_001245394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
GRCh371131,806,340 - 31,839,509 (-)NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBI
CHM1_11131,805,847 - 31,832,208 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001310158   ⟹   NP_001297087
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,812,203 (-)NCBI
CHM1_11131,805,847 - 31,833,407 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,948,010 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001310159   ⟹   NP_001297088
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,793,205 - 31,806,925 (-)NCBI
CHM1_11131,814,268 - 31,827,991 (-)NCBI
T2T-CHM13v2.01131,929,021 - 31,942,732 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001310160   ⟹   NP_001297089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,804,059 (-)NCBI
CHM1_11131,805,847 - 31,825,302 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,865 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001310161   ⟹   NP_001297090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,804,059 (-)NCBI
CHM1_11131,805,847 - 31,825,302 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,865 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368887   ⟹   NP_001355816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,812,038 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,845 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368888   ⟹   NP_001355817
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,812,203 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,948,010 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368889   ⟹   NP_001355818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,809,959 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,945,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368890   ⟹   NP_001355819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,812,720 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,948,527 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368891   ⟹   NP_001355820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,807,622 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,943,429 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368892   ⟹   NP_001355821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368893   ⟹   NP_001355822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368894   ⟹   NP_001355823
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368899   ⟹   NP_001355828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,803,673 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,479 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368900   ⟹   NP_001355829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,803,673 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,479 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368901   ⟹   NP_001355830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,804,059 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,865 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368902   ⟹   NP_001355831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,803,673 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,479 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368903   ⟹   NP_001355832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,803,673 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,479 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368904   ⟹   NP_001355833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368905   ⟹   NP_001355834
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368906   ⟹   NP_001355835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,806,001 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,941,808 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368907   ⟹   NP_001355836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,803,673 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,479 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368908   ⟹   NP_001355837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,805,041 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,940,847 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368909   ⟹   NP_001355838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368910   ⟹   NP_001355839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368911   ⟹   NP_001355840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368912   ⟹   NP_001355841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368913   ⟹   NP_001355842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368914   ⟹   NP_001355843
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368915   ⟹   NP_001355844
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,812,038 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,845 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368916   ⟹   NP_001355845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368917   ⟹   NP_001355846
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368918   ⟹   NP_001355847
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368919   ⟹   NP_001355848
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,817,961 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368920   ⟹   NP_001355849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368921   ⟹   NP_001355850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,817,961 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368922   ⟹   NP_001355851
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368923   ⟹   NP_001355852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,817,961 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368924   ⟹   NP_001355853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,807,622 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,943,429 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368925   ⟹   NP_001355854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368926   ⟹   NP_001355855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368927   ⟹   NP_001355856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368928   ⟹   NP_001355857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368929   ⟹   NP_001355858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,803,673 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,939,479 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368930   ⟹   NP_001355859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,800,661 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,936,466 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001604   ⟹   NP_001595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,322 (-)NCBI
GRCh371131,806,340 - 31,839,509 (-)ENTREZGENE
Build 361131,767,034 - 31,789,455 (-)NCBI Archive
HuRef1131,501,758 - 31,535,259 (-)ENTREZGENE
CHM1_11131,805,847 - 31,832,419 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,947,129 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160916
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,811,121 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,946,928 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160917
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,789,026 - 31,817,961 (-)NCBI
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000271 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121084 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245391 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245392 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245393 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245394 (Get FASTA)   NCBI Sequence Viewer  
  NP_001297087 (Get FASTA)   NCBI Sequence Viewer  
  NP_001297088 (Get FASTA)   NCBI Sequence Viewer  
  NP_001297089 (Get FASTA)   NCBI Sequence Viewer  
  NP_001297090 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355816 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355817 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355818 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355819 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355820 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355821 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355822 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355823 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355831 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355832 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355833 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355834 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355835 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355836 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355837 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355838 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355839 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355840 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355841 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355842 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355843 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355844 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355845 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355846 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355847 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355848 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355849 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355850 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355851 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355852 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355853 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355854 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355855 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355856 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355857 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355858 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355859 (Get FASTA)   NCBI Sequence Viewer  
  NP_001595 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36416 (Get FASTA)   NCBI Sequence Viewer  
  AAA59962 (Get FASTA)   NCBI Sequence Viewer  
  AAB30690 (Get FASTA)   NCBI Sequence Viewer  
  AAB30691 (Get FASTA)   NCBI Sequence Viewer  
  AAB30692 (Get FASTA)   NCBI Sequence Viewer  
  AAH11953 (Get FASTA)   NCBI Sequence Viewer  
  AAK95849 (Get FASTA)   NCBI Sequence Viewer  
  AAN86817 (Get FASTA)   NCBI Sequence Viewer  
  AAO27433 (Get FASTA)   NCBI Sequence Viewer  
  AAP57671 (Get FASTA)   NCBI Sequence Viewer  
  AAP74576 (Get FASTA)   NCBI Sequence Viewer  
  AAR10412 (Get FASTA)   NCBI Sequence Viewer  
  AAR10413 (Get FASTA)   NCBI Sequence Viewer  
  AAS44593 (Get FASTA)   NCBI Sequence Viewer  
  AAS44594 (Get FASTA)   NCBI Sequence Viewer  
  AAU12168 (Get FASTA)   NCBI Sequence Viewer  
  AAX56950 (Get FASTA)   NCBI Sequence Viewer  
  ABB55262 (Get FASTA)   NCBI Sequence Viewer  
  ABB55263 (Get FASTA)   NCBI Sequence Viewer  
  ACZ28705 (Get FASTA)   NCBI Sequence Viewer  
  ADP65746 (Get FASTA)   NCBI Sequence Viewer  
  ALU11231 (Get FASTA)   NCBI Sequence Viewer  
  ALU11232 (Get FASTA)   NCBI Sequence Viewer  
  BAD92414 (Get FASTA)   NCBI Sequence Viewer  
  BAG52023 (Get FASTA)   NCBI Sequence Viewer  
  BAJ84032 (Get FASTA)   NCBI Sequence Viewer  
  BAJ84033 (Get FASTA)   NCBI Sequence Viewer  
  BAJ84034 (Get FASTA)   NCBI Sequence Viewer  
  CAE45868 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43145 (Get FASTA)   NCBI Sequence Viewer  
  EAW68233 (Get FASTA)   NCBI Sequence Viewer  
  EAW68234 (Get FASTA)   NCBI Sequence Viewer  
  EAW68235 (Get FASTA)   NCBI Sequence Viewer  
  EAW68236 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000241001
  ENSP00000241001.8
  ENSP00000368401.2
  ENSP00000368403
  ENSP00000368403.2
  ENSP00000368406
  ENSP00000368406.3
  ENSP00000368410
  ENSP00000368410.5
  ENSP00000368418.6
  ENSP00000368424.2
  ENSP00000368427.2
  ENSP00000388132
  ENSP00000388132.3
  ENSP00000397384.2
  ENSP00000404100
  ENSP00000404100.1
  ENSP00000404356
  ENSP00000404356.2
  ENSP00000431585
  ENSP00000431585.2
  ENSP00000480026
  ENSP00000480026.1
  ENSP00000490963
  ENSP00000490963.1
  ENSP00000490971
  ENSP00000490971.1
  ENSP00000491065
  ENSP00000491065.1
  ENSP00000491210.1
  ENSP00000491214
  ENSP00000491214.1
  ENSP00000491229
  ENSP00000491229.1
  ENSP00000491267.1
  ENSP00000491280.1
  ENSP00000491295
  ENSP00000491295.1
  ENSP00000491324.1
  ENSP00000491365
  ENSP00000491365.1
  ENSP00000491492.1
  ENSP00000491517
  ENSP00000491517.1
  ENSP00000491679
  ENSP00000491679.1
  ENSP00000491779.1
  ENSP00000491862
  ENSP00000491862.1
  ENSP00000491872
  ENSP00000491872.1
  ENSP00000491904
  ENSP00000491904.1
  ENSP00000491944.1
  ENSP00000491948
  ENSP00000491948.1
  ENSP00000492024
  ENSP00000492024.1
  ENSP00000492081
  ENSP00000492081.1
  ENSP00000492111.1
  ENSP00000492129.1
  ENSP00000492166.1
  ENSP00000492177.1
  ENSP00000492181.1
  ENSP00000492205
  ENSP00000492205.1
  ENSP00000492315
  ENSP00000492315.2
  ENSP00000492316
  ENSP00000492316.1
  ENSP00000492397.1
  ENSP00000492409.1
  ENSP00000492437
  ENSP00000492437.1
  ENSP00000492476
  ENSP00000492476.1
  ENSP00000492587
  ENSP00000492587.1
  ENSP00000492658
  ENSP00000492658.1
  ENSP00000492756.1
  ENSP00000492769
  ENSP00000492769.1
  ENSP00000492802
  ENSP00000492802.1
  ENSP00000492808.1
  ENSP00000492822.1
  ENSP00000495109
  ENSP00000495109.1
GenBank Protein P26367 (Get FASTA)   NCBI Sequence Viewer  
  QGM77495 (Get FASTA)   NCBI Sequence Viewer  
  QGM77496 (Get FASTA)   NCBI Sequence Viewer  
  QGM77497 (Get FASTA)   NCBI Sequence Viewer  
  QGM77498 (Get FASTA)   NCBI Sequence Viewer  
  QGM77499 (Get FASTA)   NCBI Sequence Viewer  
  QGM77500 (Get FASTA)   NCBI Sequence Viewer  
  QGM77501 (Get FASTA)   NCBI Sequence Viewer  
  USC31984 (Get FASTA)   NCBI Sequence Viewer  
  USC31985 (Get FASTA)   NCBI Sequence Viewer  
  USC31986 (Get FASTA)   NCBI Sequence Viewer  
  USC31987 (Get FASTA)   NCBI Sequence Viewer  
  USC31988 (Get FASTA)   NCBI Sequence Viewer  
  USC31989 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001121084   ⟸   NM_001127612
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001595   ⟸   NM_001604
- Peptide Label: isoform b
- UniProtKB: F1T0F8 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000271   ⟸   NM_000280
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245391   ⟸   NM_001258462
- Peptide Label: isoform b
- UniProtKB: F1T0F8 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245392   ⟸   NM_001258463
- Peptide Label: isoform b
- UniProtKB: F1T0F8 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245393   ⟸   NM_001258464
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245394   ⟸   NM_001258465
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001297087   ⟸   NM_001310158
- Peptide Label: isoform b
- UniProtKB: F1T0F8 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001297090   ⟸   NM_001310161
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001297089   ⟸   NM_001310160
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001297088   ⟸   NM_001310159
- Peptide Label: isoform c
- UniProtKB: D1KF47 (UniProtKB/TrEMBL),   A0A1W2PPN2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001355850   ⟸   NM_001368921
- Peptide Label: isoform k
RefSeq Acc Id: NP_001355852   ⟸   NM_001368923
- Peptide Label: isoform l
- UniProtKB: A0A1W2PRG3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355848   ⟸   NM_001368919
- Peptide Label: isoform i
- UniProtKB: B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355819   ⟸   NM_001368890
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355817   ⟸   NM_001368888
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355844   ⟸   NM_001368915
- Peptide Label: isoform h
- UniProtKB: A0A1W2PQG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355816   ⟸   NM_001368887
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355855   ⟸   NM_001368926
- Peptide Label: isoform l
- UniProtKB: A0A1W2PRG3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355843   ⟸   NM_001368914
- Peptide Label: isoform g
RefSeq Acc Id: NP_001355822   ⟸   NM_001368893
- Peptide Label: isoform b
- UniProtKB: F1T0F8 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355846   ⟸   NM_001368917
- Peptide Label: isoform h
- UniProtKB: A0A1W2PQG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355856   ⟸   NM_001368927
- Peptide Label: isoform l
- UniProtKB: A0A1W2PRG3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355841   ⟸   NM_001368912
- Peptide Label: isoform g
RefSeq Acc Id: NP_001355823   ⟸   NM_001368894
- Peptide Label: isoform b
- UniProtKB: F1T0F8 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355839   ⟸   NM_001368910
- Peptide Label: isoform e
- UniProtKB: B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355851   ⟸   NM_001368922
- Peptide Label: isoform l
- UniProtKB: A0A1W2PRG3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355838   ⟸   NM_001368909
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355840   ⟸   NM_001368911
- Peptide Label: isoform f
RefSeq Acc Id: NP_001355833   ⟸   NM_001368904
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355857   ⟸   NM_001368928
- Peptide Label: isoform m
- UniProtKB: A0A1W2PRG3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355845   ⟸   NM_001368916
- Peptide Label: isoform h
- UniProtKB: A0A1W2PQG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355854   ⟸   NM_001368925
- Peptide Label: isoform l
- UniProtKB: A0A1W2PRG3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355842   ⟸   NM_001368913
- Peptide Label: isoform g
RefSeq Acc Id: NP_001355821   ⟸   NM_001368892
- Peptide Label: isoform b
- UniProtKB: F1T0F8 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355834   ⟸   NM_001368905
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355849   ⟸   NM_001368920
- Peptide Label: isoform j
- UniProtKB: B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355847   ⟸   NM_001368918
- Peptide Label: isoform i
- UniProtKB: B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355818   ⟸   NM_001368889
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355820   ⟸   NM_001368891
- Peptide Label: isoform a
- UniProtKB: Q6N006 (UniProtKB/Swiss-Prot),   P26367 (UniProtKB/Swiss-Prot),   Q99413 (UniProtKB/Swiss-Prot),   Q66SS1 (UniProtKB/TrEMBL),   B3KQG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355853   ⟸   NM_001368924
- Peptide Label: isoform l
- UniProtKB: A0A1W2PRG3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355835   ⟸   NM_001368906
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355837   ⟸   NM_001368908
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355830   ⟸   NM_001368901
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355828   ⟸   NM_001368899
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355829   ⟸   NM_001368900
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355836   ⟸   NM_001368907
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355831   ⟸   NM_001368902
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355858   ⟸   NM_001368929
- Peptide Label: isoform n
- UniProtKB: A0A1W2PRH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355832   ⟸   NM_001368903
- Peptide Label: isoform d
- UniProtKB: A0A1W2PRA8 (UniProtKB/TrEMBL),   A0A1W2PPH0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355859   ⟸   NM_001368930
- Peptide Label: isoform o
- UniProtKB: A0A1W2PSB5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000388132   ⟸   ENST00000423822
Ensembl Acc Id: ENSP00000404356   ⟸   ENST00000438681
Ensembl Acc Id: ENSP00000241001   ⟸   ENST00000241001
Ensembl Acc Id: ENSP00000492437   ⟸   ENST00000638802
Ensembl Acc Id: ENSP00000492081   ⟸   ENST00000638878
Ensembl Acc Id: ENSP00000491280   ⟸   ENST00000638853
Ensembl Acc Id: ENSP00000492181   ⟸   ENST00000638755
Ensembl Acc Id: ENSP00000491517   ⟸   ENST00000638762
Ensembl Acc Id: ENSP00000490971   ⟸   ENST00000638629
Ensembl Acc Id: ENSP00000492756   ⟸   ENST00000638696
Ensembl Acc Id: ENSP00000492316   ⟸   ENST00000638685
Ensembl Acc Id: ENSP00000492315   ⟸   ENST00000638914
Ensembl Acc Id: ENSP00000492769   ⟸   ENST00000638965
Ensembl Acc Id: ENSP00000491948   ⟸   ENST00000638963
Ensembl Acc Id: ENSP00000491267   ⟸   ENST00000638346
Ensembl Acc Id: ENSP00000491365   ⟸   ENST00000638250
Ensembl Acc Id: ENSP00000492111   ⟸   ENST00000639920
Ensembl Acc Id: ENSP00000490963   ⟸   ENST00000639916
Ensembl Acc Id: ENSP00000491229   ⟸   ENST00000639943
Ensembl Acc Id: ENSP00000491862   ⟸   ENST00000639950
Ensembl Acc Id: ENSP00000491904   ⟸   ENST00000639109
Ensembl Acc Id: ENSP00000491210   ⟸   ENST00000639006
Ensembl Acc Id: ENSP00000491324   ⟸   ENST00000639061
Ensembl Acc Id: ENSP00000491679   ⟸   ENST00000639034
Ensembl Acc Id: ENSP00000492129   ⟸   ENST00000639079
Ensembl Acc Id: ENSP00000491944   ⟸   ENST00000639548
Ensembl Acc Id: ENSP00000492476   ⟸   ENST00000639409
Ensembl Acc Id: ENSP00000492658   ⟸   ENST00000639386
Ensembl Acc Id: ENSP00000492177   ⟸   ENST00000639394
Ensembl Acc Id: ENSP00000397384   ⟸   ENST00000455099
Ensembl Acc Id: ENSP00000492205   ⟸   ENST00000481563
Ensembl Acc Id: ENSP00000368427   ⟸   ENST00000379132
Ensembl Acc Id: ENSP00000368401   ⟸   ENST00000379107
Ensembl Acc Id: ENSP00000368403   ⟸   ENST00000379109
Ensembl Acc Id: ENSP00000368410   ⟸   ENST00000379115
Ensembl Acc Id: ENSP00000368406   ⟸   ENST00000379111
Ensembl Acc Id: ENSP00000368418   ⟸   ENST00000379123
Ensembl Acc Id: ENSP00000368424   ⟸   ENST00000379129
Ensembl Acc Id: ENSP00000492397   ⟸   ENST00000640963
Ensembl Acc Id: ENSP00000491872   ⟸   ENST00000640975
Ensembl Acc Id: ENSP00000491065   ⟸   ENST00000640872
Ensembl Acc Id: ENSP00000404100   ⟸   ENST00000419022
Ensembl Acc Id: ENSP00000492409   ⟸   ENST00000640242
Ensembl Acc Id: ENSP00000492822   ⟸   ENST00000640287
Ensembl Acc Id: ENSP00000492166   ⟸   ENST00000640125
Ensembl Acc Id: ENSP00000491214   ⟸   ENST00000640766
Ensembl Acc Id: ENSP00000491492   ⟸   ENST00000640684
Ensembl Acc Id: ENSP00000492587   ⟸   ENST00000640613
Ensembl Acc Id: ENSP00000491295   ⟸   ENST00000640610
Ensembl Acc Id: ENSP00000491779   ⟸   ENST00000640431
Ensembl Acc Id: ENSP00000492802   ⟸   ENST00000640460
Ensembl Acc Id: ENSP00000492024   ⟸   ENST00000640368
Ensembl Acc Id: ENSP00000492808   ⟸   ENST00000640335
Ensembl Acc Id: ENSP00000431585   ⟸   ENST00000524853
Ensembl Acc Id: ENSP00000436365   ⟸   ENST00000525535
Ensembl Acc Id: ENSP00000495109   ⟸   ENST00000643871
Ensembl Acc Id: ENSP00000480026   ⟸   ENST00000606377
Protein Domains
Homeobox   Paired

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P26367-F1-model_v2 AlphaFold P26367 1-422 view protein structure

Promoters
RGD ID:6788745
Promoter ID:HG_KWN:12565
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000346294,   ENST00000379107,   NM_001604,   OTTHUMT00000099288,   OTTHUMT00000099340,   UC001MTD.2,   UC001MTE.2,   UC001MTH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361131,788,371 - 31,789,532 (-)MPROMDB
RGD ID:7219937
Promoter ID:EPDNEW_H15714
Type:multiple initiation site
Name:PAX6_4
Description:paired box 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15715  EPDNEW_H15716  EPDNEW_H15717  EPDNEW_H15718  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,804,057 - 31,804,117EPDNEW
RGD ID:7219939
Promoter ID:EPDNEW_H15715
Type:initiation region
Name:PAX6_1
Description:paired box 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15714  EPDNEW_H15716  EPDNEW_H15717  EPDNEW_H15718  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,811,121 - 31,811,181EPDNEW
RGD ID:7219941
Promoter ID:EPDNEW_H15716
Type:initiation region
Name:PAX6_2
Description:paired box 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15714  EPDNEW_H15715  EPDNEW_H15717  EPDNEW_H15718  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,811,322 - 31,811,382EPDNEW
RGD ID:7219943
Promoter ID:EPDNEW_H15717
Type:initiation region
Name:PAX6_5
Description:paired box 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15714  EPDNEW_H15715  EPDNEW_H15716  EPDNEW_H15718  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,812,177 - 31,812,237EPDNEW
RGD ID:7219945
Promoter ID:EPDNEW_H15718
Type:initiation region
Name:PAX6_3
Description:paired box 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15714  EPDNEW_H15715  EPDNEW_H15716  EPDNEW_H15717  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,817,961 - 31,818,021EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8620 AgrOrtholog
COSMIC PAX6 COSMIC
Ensembl Genes ENSG00000007372 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000241001 ENTREZGENE
  ENST00000241001.13 UniProtKB/Swiss-Prot
  ENST00000379107.7 UniProtKB/Swiss-Prot
  ENST00000379109 ENTREZGENE
  ENST00000379109.7 UniProtKB/Swiss-Prot
  ENST00000379111 ENTREZGENE
  ENST00000379111.7 UniProtKB/TrEMBL
  ENST00000379115 ENTREZGENE
  ENST00000379115.9 UniProtKB/TrEMBL
  ENST00000379123.10 UniProtKB/TrEMBL
  ENST00000379129.7 UniProtKB/Swiss-Prot
  ENST00000379132.8 UniProtKB/Swiss-Prot
  ENST00000419022 ENTREZGENE
  ENST00000419022.6 UniProtKB/Swiss-Prot
  ENST00000423822 ENTREZGENE
  ENST00000423822.7 UniProtKB/TrEMBL
  ENST00000438681 ENTREZGENE
  ENST00000438681.6 UniProtKB/TrEMBL
  ENST00000455099.6 UniProtKB/TrEMBL
  ENST00000481563 ENTREZGENE
  ENST00000481563.6 UniProtKB/TrEMBL
  ENST00000524853 ENTREZGENE
  ENST00000524853.6 UniProtKB/TrEMBL
  ENST00000606377 ENTREZGENE
  ENST00000606377.7 UniProtKB/Swiss-Prot
  ENST00000638250 ENTREZGENE
  ENST00000638250.1 UniProtKB/TrEMBL
  ENST00000638346.1 UniProtKB/TrEMBL
  ENST00000638629 ENTREZGENE
  ENST00000638629.1 UniProtKB/TrEMBL
  ENST00000638685 ENTREZGENE
  ENST00000638685.1 UniProtKB/TrEMBL
  ENST00000638696.1 UniProtKB/TrEMBL
  ENST00000638755.1 UniProtKB/TrEMBL
  ENST00000638762 ENTREZGENE
  ENST00000638762.1 UniProtKB/TrEMBL
  ENST00000638802 ENTREZGENE
  ENST00000638802.1 UniProtKB/TrEMBL
  ENST00000638853.1 UniProtKB/TrEMBL
  ENST00000638878 ENTREZGENE
  ENST00000638878.1 UniProtKB/TrEMBL
  ENST00000638914 ENTREZGENE
  ENST00000638914.3 UniProtKB/Swiss-Prot
  ENST00000638963 ENTREZGENE
  ENST00000638963.1 UniProtKB/TrEMBL
  ENST00000638965 ENTREZGENE
  ENST00000638965.1 UniProtKB/TrEMBL
  ENST00000639006.1 UniProtKB/TrEMBL
  ENST00000639034 ENTREZGENE
  ENST00000639034.2 UniProtKB/TrEMBL
  ENST00000639061.1 UniProtKB/TrEMBL
  ENST00000639079.1 UniProtKB/TrEMBL
  ENST00000639109 ENTREZGENE
  ENST00000639109.1 UniProtKB/TrEMBL
  ENST00000639386 ENTREZGENE
  ENST00000639386.2 UniProtKB/TrEMBL
  ENST00000639394.1 UniProtKB/TrEMBL
  ENST00000639409 ENTREZGENE
  ENST00000639409.1 UniProtKB/Swiss-Prot
  ENST00000639548.1 UniProtKB/TrEMBL
  ENST00000639916 ENTREZGENE
  ENST00000639916.1 UniProtKB/Swiss-Prot
  ENST00000639920.1 UniProtKB/TrEMBL
  ENST00000639943 ENTREZGENE
  ENST00000639943.1 UniProtKB/TrEMBL
  ENST00000639950 ENTREZGENE
  ENST00000639950.1 UniProtKB/TrEMBL
  ENST00000640125.1 UniProtKB/TrEMBL
  ENST00000640242.1 UniProtKB/TrEMBL
  ENST00000640287.1 UniProtKB/Swiss-Prot
  ENST00000640335.1 UniProtKB/TrEMBL
  ENST00000640368 ENTREZGENE
  ENST00000640368.2 UniProtKB/Swiss-Prot
  ENST00000640431.1 UniProtKB/TrEMBL
  ENST00000640460 ENTREZGENE
  ENST00000640460.1 UniProtKB/TrEMBL
  ENST00000640610 ENTREZGENE
  ENST00000640610.1 UniProtKB/Swiss-Prot
  ENST00000640613 ENTREZGENE
  ENST00000640613.1 UniProtKB/TrEMBL
  ENST00000640684.1 UniProtKB/TrEMBL
  ENST00000640766 ENTREZGENE
  ENST00000640766.1 UniProtKB/TrEMBL
  ENST00000640872 ENTREZGENE
  ENST00000640872.1 UniProtKB/TrEMBL
  ENST00000640963.1 UniProtKB/TrEMBL
  ENST00000640975 ENTREZGENE
  ENST00000640975.1 UniProtKB/Swiss-Prot
  ENST00000643871 ENTREZGENE
  ENST00000643871.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000007372 GTEx
HGNC ID HGNC:8620 ENTREZGENE
Human Proteome Map PAX6 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAIRED_DNA_bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Paired_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAX_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5080 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5080 ENTREZGENE
OMIM 607108 OMIM
PANTHER PAIRED BOX PROTEIN PAX-6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAIRED BOX PROTEIN PAX-6 UniProtKB/TrEMBL
  PTHR45636 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32960 PharmGKB
PRINTS PAIREDBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAIRED_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAIRED_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PNS7_HUMAN UniProtKB/TrEMBL
  A0A1W2PP27_HUMAN UniProtKB/TrEMBL
  A0A1W2PP89_HUMAN UniProtKB/TrEMBL
  A0A1W2PPG3_HUMAN UniProtKB/TrEMBL
  A0A1W2PPH0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPJ2_HUMAN UniProtKB/TrEMBL
  A0A1W2PPM5_HUMAN UniProtKB/TrEMBL
  A0A1W2PPN2 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQ31_HUMAN UniProtKB/TrEMBL
  A0A1W2PQA8_HUMAN UniProtKB/TrEMBL
  A0A1W2PQG3_HUMAN UniProtKB/TrEMBL
  A0A1W2PQG7 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQJ8_HUMAN UniProtKB/TrEMBL
  A0A1W2PQL7_HUMAN UniProtKB/TrEMBL
  A0A1W2PQM7_HUMAN UniProtKB/TrEMBL
  A0A1W2PQW3_HUMAN UniProtKB/TrEMBL
  A0A1W2PR58_HUMAN UniProtKB/TrEMBL
  A0A1W2PRA4_HUMAN UniProtKB/TrEMBL
  A0A1W2PRA8 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRG3 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRH6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRS6_HUMAN UniProtKB/TrEMBL
  A0A1W2PRU4_HUMAN UniProtKB/TrEMBL
  A0A1W2PRW7_HUMAN UniProtKB/TrEMBL
  A0A1W2PS91_HUMAN UniProtKB/TrEMBL
  A0A1W2PSA8_HUMAN UniProtKB/TrEMBL
  A0A1W2PSB5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1X7SBT0_HUMAN UniProtKB/TrEMBL
  B1B1I8_HUMAN UniProtKB/TrEMBL
  B1B1I9_HUMAN UniProtKB/TrEMBL
  B1B1J0_HUMAN UniProtKB/TrEMBL
  B3KQG1 ENTREZGENE, UniProtKB/TrEMBL
  D1KF47 ENTREZGENE, UniProtKB/TrEMBL
  E5LBD7_HUMAN UniProtKB/TrEMBL
  E9PKM0_HUMAN UniProtKB/TrEMBL
  F1T0F8 ENTREZGENE, UniProtKB/TrEMBL
  L8E7A6_HUMAN UniProtKB/TrEMBL
  P26367 ENTREZGENE, UniProtKB/Swiss-Prot
  Q2XU31_HUMAN UniProtKB/TrEMBL
  Q2XU32_HUMAN UniProtKB/TrEMBL
  Q56H36_HUMAN UniProtKB/TrEMBL
  Q66SS1 ENTREZGENE, UniProtKB/TrEMBL
  Q6N006 ENTREZGENE
  Q6RYC5_HUMAN UniProtKB/TrEMBL
  Q6VMN9_HUMAN UniProtKB/TrEMBL
  Q6VMP0_HUMAN UniProtKB/TrEMBL
  Q7Z5Y4_HUMAN UniProtKB/TrEMBL
  Q7Z6F0_HUMAN UniProtKB/TrEMBL
  Q8IVH0_HUMAN UniProtKB/TrEMBL
  Q99413 ENTREZGENE
UniProt Secondary Q6N006 UniProtKB/Swiss-Prot
  Q99413 UniProtKB/Swiss-Prot