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Gene: FOXC1 (forkhead box C1) Homo sapiens

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Symbol:

FOXC1

Name:

forkhead box C1

RGD ID:

1353830

HGNC Page

HGNC:3800

Description:

Enables DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; positive regulation of cell differentiation; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within eye development; heart development; and positive regulation of DNA-templated transcription. Located in cytosol; heterochromatin; and nucleoplasm. Implicated in Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3; anterior segment dysgenesis 3; and glaucoma. Biomarker of congestive heart failure and invasive ductal carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ARA; ASGD3; FKHL7; forkhead box C1 protein; forkhead box protein C1; forkhead, drosophila, homolog-like 7; forkhead-related activator 3; forkhead-related protein FKHL7; forkhead-related transcription factor 3; forkhead/winged helix-like transcription factor 7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; iris hypoplasia with glaucoma 1; myeloid factor-delta; RIEG3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Foxc1 (forkhead box C1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Foxc1 (forkhead box C1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Pan paniscus (bonobo/pygmy chimpanzee):	FOXC1 (forkhead box C1)	NCBI	Ortholog
Canis lupus familiaris (dog):	FOXC1 (forkhead box C1)	HGNC	NCBI
Sus scrofa (pig):	FOXC1 (forkhead box C1)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	FOXC1 (forkhead box C1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Foxc1 (forkhead box C1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Cobll1 (cordon-bleu WH2 repeat protein-like 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Foxc1 (forkhead box C1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Foxc1 (forkhead box C1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	foxc1a (forkhead box C1a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	foxc1a (forkhead box C1a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	foxc1b (forkhead box C1b)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|ZFIN)
Danio rerio (zebrafish):	foxc1b (forkhead box C1b)	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	FKH1	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER)
Drosophila melanogaster (fruit fly):	croc	Alliance	DIOPT (InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	croc	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	foxc1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	foxc1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	foxc1.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	1,609,915 - 1,613,897 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	1,609,915 - 1,613,897 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	1,610,150 - 1,614,132 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	1,555,680 - 1,559,131 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	1,555,679 - 1,557,341	NCBI
Celera	6	2,838,909 - 2,842,360 (+)	NCBI		Celera
Cytogenetic Map	6	p25.3	NCBI
HuRef	6	1,480,597 - 1,483,685 (+)	NCBI		HuRef
CHM1_1	6	1,612,575 - 1,616,026 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	1,472,916 - 1,476,901 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

alopecia (IAGP)

aniridia (IAGP)

anterior segment dysgenesis (IAGP,ISO)

anterior segment dysgenesis 3 (EXP,IAGP)

Axenfeld-Rieger syndrome (IAGP)

Axenfeld-Rieger syndrome type 3 (IAGP)

Breast Neoplasms (IDA)

buphthalmos (ISS)

CAKUT (IAGP)

complex cortical dysplasia with other brain malformations (ISO)

congestive heart failure (IEP)

Dandy-Walker syndrome (EXP)

De Hauwere syndrome (IAGP)

genetic disease (IAGP)

glaucoma (IAGP)

Hearing Loss (IAGP)

hydrocephalus (ISO)

Hypertelorism (IAGP)

Hypertelorism and Tetralogy of Fallot (IAGP)

invasive ductal carcinoma (IEP)

juvenile glaucoma (IAGP)

open-angle glaucoma (EXP)

Prostatic Neoplasms (EXP)

Spinocerebellar Ataxias (EXP)

Telecanthus (IAGP)

tetralogy of Fallot (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-methylcholine (EXP)

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (ISO)

5-aza-2'-deoxycytidine (EXP)

5-fluorouracil (EXP)

6-propyl-2-thiouracil (ISO)

all-trans-retinoic acid (EXP)

amitrole (ISO)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

atrazine (EXP)

benzalkonium chloride (ISO)

benzo[a]pyrene (EXP)

beta-lapachone (EXP)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

buta-1,3-diene (ISO)

cadmium dichloride (ISO)

calcitriol (EXP)

carbamazepine (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

clomiphene (EXP)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

coumarin (EXP)

cyclosporin A (EXP,ISO)

DDE (EXP)

dexamethasone (ISO)

diethylstilbestrol (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

estrone (EXP)

fenvalerate (ISO)

folic acid (EXP)

FR900359 (EXP)

fulvestrant (EXP)

furan (ISO)

genistein (EXP,ISO)

hexestrol (EXP)

hydrogen peroxide (EXP)

isoflurane (ISO)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

menadione (EXP)

mercury dibromide (EXP)

mestranol (EXP)

methimazole (ISO)

methotrexate (EXP)

methylisothiazolinone (EXP)

methylmercury chloride (EXP)

N-methyl-4-phenylpyridinium (ISO)

nickel atom (EXP)

okadaic acid (EXP)

oxybenzone (ISO)

p-chloromercuribenzoic acid (EXP)

panobinostat (EXP)

paracetamol (ISO)

perfluorononanoic acid (EXP)

phenobarbital (EXP)

pirinixic acid (ISO)

raloxifene (EXP)

SB 431542 (EXP)

sevoflurane (ISO)

sodium arsenate (ISO)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

tamoxifen (EXP)

temozolomide (EXP)

testosterone (EXP)

thimerosal (EXP)

titanium dioxide (ISO)

toluene (ISO)

triadimefon (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure morphogenesis (IBA)

angiogenesis (IEA)

apoptotic process involved in outflow tract morphogenesis (IEA)

artery morphogenesis (IEA)

blood vessel development (IEA)

blood vessel diameter maintenance (IEA)

blood vessel remodeling (IEA)

brain development (IEA)

camera-type eye development (IEA)

cardiac muscle cell proliferation (IEA)

cell differentiation (IBA)

cell migration (IDA,IMP)

cell population proliferation (IDA,IMP)

cellular response to chemokine (IEA,ISS)

cellular response to epidermal growth factor stimulus (IMP)

cerebellum development (IEA,ISS)

chemokine-mediated signaling pathway (IEA,ISS)

collagen fibril organization (IEA)

embryonic heart tube development (IEA)

endochondral ossification (IEA,ISS)

eye development (IDA,IEA)

germ cell migration (IEA)

glomerular epithelium development (IEA,ISS)

glycosaminoglycan metabolic process (IEA)

heart development (IDA,IEA)

heart morphogenesis (IEA)

in utero embryonic development (IEA)

kidney development (IEA,ISS)

lacrimal gland development (IEA)

lymph vessel development (IEA)

maintenance of lens transparency (IEA,ISS)

mesenchymal cell development (IEA,ISS)

mesenchymal cell differentiation (IEA)

negative regulation of angiogenesis (IEA,ISS)

negative regulation of apoptotic process involved in outflow tract morphogenesis (IEA)

negative regulation of lymphangiogenesis (IEA,ISS)

negative regulation of mitotic cell cycle (IDA)

negative regulation of transcription by RNA polymerase II (IEA,ISS)

neural crest cell development (IEA)

Notch signaling pathway (IEA)

odontogenesis of dentin-containing tooth (IMP)

ossification (IEA)

ovarian follicle development (IEA)

paraxial mesoderm formation (IEA,ISO)

positive regulation of DNA-templated transcription (IDA,NAS)

positive regulation of epithelial to mesenchymal transition (IMP)

positive regulation of gene expression (IEA)

positive regulation of hematopoietic progenitor cell differentiation (IEA,ISS)

positive regulation of hematopoietic stem cell differentiation (IEA,ISS)

positive regulation of keratinocyte differentiation (IMP)

positive regulation of transcription by RNA polymerase II (IDA,IEA,IMP,ISS)

regulation of DNA-templated transcription (IDA,IEA)

regulation of organ growth (IEA)

regulation of transcription by RNA polymerase II (IBA)

skeletal system development (IEA)

somitogenesis (IEA)

ureteric bud development (IEA,ISS)

vascular endothelial growth factor receptor signaling pathway (IEA)

vascular endothelial growth factor signaling pathway (IEA,ISS)

ventricular cardiac muscle tissue morphogenesis (IEA)

Cellular Component

chromatin (ISA)

cytosol (IDA)

heterochromatin (IDA)

nucleoplasm (IDA)

nucleus (IC,IDA,IEA)

Molecular Function

DNA binding (IDA,IEA)

DNA binding, bending (IDA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IDA,IEA,ISS)

DNA-binding transcription factor activity (IDA,IEA,IMP)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IEA,ISA)

DNA-binding transcription factor binding (IPI)

promoter-specific chromatin binding (IEA,ISS)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IEA)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IDA)

RNA polymerase II-specific DNA-binding transcription factor binding (IPI)

sequence-specific DNA binding (IDA,IEA)

transcription cis-regulatory region binding (IDA,IEA,ISS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal anterior chamber morphology (IAGP)

Abnormal cardiovascular system morphology (IAGP)

Abnormal foveal pit on macular OCT (IAGP)

Abnormal full-field electroretinogram (IAGP)

Abnormal iris vasculature (IAGP)

Abnormal multifocal electroretinogram (IAGP)

Abnormality of the hypothalamus-pituitary axis (IAGP)

Anal stenosis (IAGP)

Aniridia (IAGP)

Anterior synechiae of the anterior chamber (IAGP)

Aplasia/Hypoplasia of the iris (IAGP)

Aplasia/Hypoplasia of the macula (IAGP)

Atrial septal defect (IAGP)

Autosomal dominant inheritance (IAGP)

Axenfeld anomaly (IAGP)

Cataract (IAGP)

Central opacification of the cornea (IAGP)

Cerebellar vermis hypoplasia (IAGP)

Concave nasal ridge (IAGP)

Congenital onset (IAGP)

Corneal neovascularization (IAGP)

Corneal opacity (IAGP)

Depressed nasal bridge (IAGP)

Developmental glaucoma (IAGP)

Ectopia lentis (IAGP)

Ectopia pupillae (IAGP)

Enlarged cisterna magna (IAGP)

Everted lower lip vermilion (IAGP)

Glaucoma (IAGP)

Growth delay (IAGP)

Hearing impairment (IAGP)

Hypertelorism (IAGP)

Hypodontia (IAGP)

Hypopigmentation of the fundus (IAGP)

Hypoplasia of the fovea (IAGP)

Hypoplasia of the iris (IAGP)

Hypoplasia of the maxilla (IAGP)

Hypoplastic iris stroma (IAGP)

Hypospadias (IAGP)

Infantile onset (IAGP)

Juvenile onset (IAGP)

Keratoconjunctivitis sicca (IAGP)

Lens coloboma (IAGP)

Limbal stem cell deficiency (IAGP)

Malar flattening (IAGP)

Microdontia (IAGP)

Microphthalmia (IAGP)

Microspherophakia (IAGP)

Midface retrusion (IAGP)

Nystagmus (IAGP)

Ocular anterior segment dysgenesis (IAGP)

Opacification of the corneal stroma (IAGP)

Optic nerve hypoplasia (IAGP)

Patent ductus arteriosus (IAGP)

Peters anomaly (IAGP)

Photophobia (IAGP)

Posterior embryotoxon (IAGP)

Posterior synechiae of the anterior chamber (IAGP)

Prominent forehead (IAGP)

Proptosis (IAGP)

Ptosis (IAGP)

Red-green dyschromatopsia (IAGP)

Reduced visual acuity (IAGP)

Redundant skin (IAGP)

Rieger anomaly (IAGP)

Sensorineural hearing impairment (IAGP)

Strabismus (IAGP)

Subcapsular cataract (IAGP)

Telecanthus (IAGP)

Thinning of Descemet membrane (IAGP)

Visual loss (IAGP)

Wide nasal bridge (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response.	Dejeux E, etal., Mol Cancer. 2010 Mar 25;9:68. doi: 10.1186/1476-4598-9-68.
2.	Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.	Fuse N, etal., Mol Vis. 2007 Jun 27;13:1005-9.
3.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
4.	Transcriptional genomics associates FOX transcription factors with human heart failure.	Hannenhalli S, etal., Circulation. 2006 Sep 19;114(12):1269-76. Epub 2006 Sep 4.
5.	Primary cellular meningeal defects cause neocortical dysplasia and dyslamination.	Hecht JH, etal., Ann Neurol. 2010 Oct;68(4):454-64. doi: 10.1002/ana.22103.
6.	A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.	Honkanen RA, etal., Am J Ophthalmol. 2003 Mar;135(3):368-75.
7.	The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.	Kume T, etal., Cell. 1998 Jun 12;93(6):985-96.
8.	Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.	Mortemousque B, etal., Arch Ophthalmol. 2004 Oct;122(10):1527-33.
9.	Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer.	Muggerud AA, etal., Breast Cancer Res. 2010;12(1):R3. doi: 10.1186/bcr2466. Epub 2010 Jan 7.
10.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
11.	Basal-like breast cancer defined by FOXC1 expression offers superior prognostic value: a retrospective immunohistochemical study.	Ray PS, etal., Ann Surg Oncol. 2011 Dec;18(13):3839-47. doi: 10.1245/s10434-011-1657-8. Epub 2011 Mar 18.
12.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
14.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15.	Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.	Smith RS, etal., Hum Mol Genet. 2000 Apr 12;9(7):1021-32.
16.	A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.	Weisschuh N, etal., Clin Genet. 2008 Nov;74(5):476-80. doi: 10.1111/j.1399-0004.2008.01025.x. Epub 2008 May 21.

Additional References at PubMed

PMID:7957066	PMID:8499623	PMID:8825632	PMID:8940278	PMID:9326342	PMID:9382099	PMID:9620769	PMID:9792859	PMID:10474162	PMID:10713890	PMID:11007653	PMID:11170889
PMID:11179011	PMID:11237714	PMID:11320352	PMID:11562355	PMID:11740218	PMID:11748221	PMID:11782474	PMID:11821690	PMID:12234674	PMID:12408963	PMID:12454026	PMID:12477932
PMID:12592227	PMID:14506133	PMID:14574404	PMID:14578375	PMID:14702039	PMID:15277473	PMID:15299087	PMID:15684392	PMID:16449236	PMID:16492674	PMID:16638984	PMID:16936096
PMID:17000708	PMID:17157569	PMID:17197537	PMID:17210863	PMID:17486624	PMID:17558846	PMID:17993506	PMID:18029348	PMID:18484311	PMID:18564921	PMID:18616618	PMID:18676636
PMID:18676680	PMID:18708620	PMID:19170196	PMID:19274049	PMID:19279310	PMID:19322201	PMID:19513095	PMID:19625176	PMID:19626132	PMID:19668217	PMID:19692168	PMID:19793056
PMID:19913121	PMID:20406990	PMID:20453000	PMID:20628086	PMID:20881294	PMID:21031026	PMID:21278591	PMID:21353197	PMID:21400511	PMID:21465172	PMID:21837767	PMID:21873635
PMID:22020760	PMID:22120723	PMID:22190034	PMID:22249250	PMID:22493429	PMID:22569110	PMID:22645147	PMID:22736943	PMID:22903608	PMID:22911555	PMID:22991501	PMID:23242609
PMID:23264086	PMID:23444221	PMID:23541832	PMID:23667531	PMID:23687430	PMID:24556684	PMID:24711643	PMID:24854274	PMID:24889262	PMID:24914578	PMID:25031703	PMID:25124473
PMID:25130698	PMID:25250569	PMID:25281560	PMID:25515538	PMID:25609649	PMID:25665578	PMID:25786029	PMID:25809640	PMID:25875420	PMID:26041837	PMID:26049754	PMID:26065367
PMID:26186194	PMID:26198045	PMID:26220699	PMID:26240509	PMID:26382291	PMID:26496610	PMID:26565916	PMID:26585487	PMID:26643481	PMID:26752265	PMID:26972000	PMID:27041579
PMID:27214551	PMID:27242366	PMID:27463523	PMID:27505670	PMID:27533251	PMID:27685901	PMID:27708239	PMID:27804176	PMID:27880917	PMID:27907090	PMID:28028927	PMID:28111183
PMID:28288141	PMID:28330616	PMID:28435457	PMID:28493031	PMID:28513611	PMID:28514442	PMID:28575017	PMID:28629477	PMID:28635400	PMID:28657660	PMID:28684636	PMID:28794006
PMID:28810526	PMID:29091762	PMID:29249801	PMID:29328384	PMID:29365100	PMID:29660031	PMID:29803789	PMID:29844126	PMID:29847662	PMID:29884889	PMID:29939776	PMID:29959321
PMID:29978194	PMID:30003742	PMID:30060822	PMID:30171256	PMID:30189871	PMID:30209976	PMID:30290049	PMID:30431099	PMID:30457409	PMID:30464116	PMID:30514661	PMID:30722065
PMID:30804502	PMID:30889612	PMID:31091453	PMID:31372939	PMID:31512996	PMID:31588228	PMID:31597217	PMID:31650548	PMID:31753913	PMID:31836490	PMID:31837247	PMID:31892566
PMID:31916318	PMID:32046874	PMID:32107877	PMID:32152128	PMID:32295643	PMID:32445751	PMID:32460013	PMID:32475988	PMID:32631953	PMID:32632082	PMID:32690597	PMID:32733009
PMID:32832252	PMID:32878637	PMID:32905845	PMID:33057161	PMID:33060197	PMID:33231930	PMID:33414365	PMID:33522955	PMID:33568052	PMID:33727172	PMID:33771836	PMID:33961781
PMID:33965401	PMID:34041718	PMID:34079125	PMID:34082653	PMID:34106567	PMID:34298004	PMID:34334155	PMID:34432784	PMID:34551306	PMID:34709727	PMID:34709743	PMID:34741396
PMID:34784418	PMID:34957298	PMID:35140242	PMID:35327965	PMID:35354164	PMID:35504885	PMID:35633546	PMID:35850772	PMID:35946462	PMID:36089195	PMID:36373674	PMID:36420648
PMID:36442680	PMID:37071682	PMID:37255026	PMID:37488009	PMID:38101711	PMID:38183514	PMID:38580085	PMID:38634789	PMID:39093497	PMID:39430239	PMID:39617063

Genomics

Comparative Map Data

FOXC1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	1,609,915 - 1,613,897 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	1,609,915 - 1,613,897 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	1,610,150 - 1,614,132 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	1,555,680 - 1,559,131 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	1,555,679 - 1,557,341	NCBI
Celera	6	2,838,909 - 2,842,360 (+)	NCBI		Celera
Cytogenetic Map	6	p25.3	NCBI
HuRef	6	1,480,597 - 1,483,685 (+)	NCBI		HuRef
CHM1_1	6	1,612,575 - 1,616,026 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	1,472,916 - 1,476,901 (+)	NCBI		T2T-CHM13v2.0

Foxc1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	31,990,629 - 31,994,618 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	31,990,616 - 31,996,459 (+)	Ensembl		GRCm39 Ensembl
GRCm38	13	31,806,646 - 31,810,635 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	31,806,633 - 31,812,476 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	31,898,515 - 31,902,504 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	31,814,111 - 31,818,100 (+)	NCBI		MGSCv36	mm8
Celera	13	32,016,470 - 32,020,494 (+)	NCBI		Celera
Cytogenetic Map	13	A3.2	NCBI
cM Map	13	13.52	NCBI

Foxc1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	32,840,119 - 32,844,100 (-)	NCBI		GRCr8
GRCr8 Ensembl	17	32,805,858 - 32,844,347 (-)	Ensembl		GRCr8 Ensembl
mRatBN7.2	17	32,631,379 - 32,635,361 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	32,633,142 - 32,634,803 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	32,479,163 - 32,483,145 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	34,082,977 - 34,086,959 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	32,474,984 - 32,478,967 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	33,947,501 - 33,951,484 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	33,947,506 - 33,951,484 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	35,833,707 - 35,837,690 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	39,026,186 - 39,030,163 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	17	32,190,633 - 32,194,475 (-)	NCBI		Celera
Cytogenetic Map	17	p12	NCBI

FOXC1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	16,225,162 - 16,229,276 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	12,220,400 - 12,224,482 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	1,429,051 - 1,433,180 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

FOXC1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Dog10K_Boxer_Tasha	35	2,065,990 - 2,069,716 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	35	2,012,278 - 2,015,999 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	35	2,012,321 - 2,014,021 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	35	1,987,281 - 1,991,006 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	35	2,008,542 - 2,012,243 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	35	3,344,191 - 3,347,919 (+)	NCBI		UU_Cfam_GSD_1.0

FOXC1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	837,171 - 838,805 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	837,088 - 840,593 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	1,037,165 - 1,039,040 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FOXC1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	17	70,533,048 - 70,536,555 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	70,534,821 - 70,536,476 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	1,552,589 - 1,556,578 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Foxc1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624756	23,060,751 - 23,062,343 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624756	23,060,065 - 23,062,407 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FOXC1
598 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001453.3(FOXC1):c.375C>T (p.Ser125=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001489644]	Chr6:1610820 [GRCh38] Chr6:1611055 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000530021]\|Axenfeld-Rieger syndrome type 3 [RCV005034100]	Chr6:1611496 [GRCh38] Chr6:1611731 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.216G>A (p.Gln72=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001516981]\|not provided [RCV000828428]	Chr6:1610661 [GRCh38] Chr6:1610896 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.153_163del (p.His52fs)	deletion	Anterior segment dysgenesis 3 [RCV000008967]	Chr6:1610596..1610606 [GRCh38] Chr6:1610831..1610841 [GRCh37] Chr6:6p25.3	pathogenic
FOXC1, DUP	duplication	Anterior segment dysgenesis 3 [RCV000008976]	Chr6:6p25	pathogenic
FOXC1, 22-BP INS, NT26	insertion	Anterior segment dysgenesis 3 [RCV000008977]	Chr6:6p25	pathogenic
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001397059]\|not provided [RCV000729908]	Chr6:1611907..1611912 [GRCh38] Chr6:1612142..1612147 [GRCh37] Chr6:6p25.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.1111_1119del (p.Ala371_Ser373del)	deletion	not provided [RCV000722725]	Chr6:1611552..1611560 [GRCh38] Chr6:1611787..1611795 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV000008968]\|Axenfeld-Rieger syndrome type 3 [RCV003509480]	Chr6:1610837 [GRCh38] Chr6:1611072 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV000008969]	Chr6:1610823 [GRCh38] Chr6:1611058 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000008971]	Chr6:1610780 [GRCh38] Chr6:1611015 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000008973]	Chr6:1610512 [GRCh38] Chr6:1610747 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000008978]	Chr6:1610690 [GRCh38] Chr6:1610925 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV000008979]	Chr6:1610706 [GRCh38] Chr6:1610941 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000008980]\|not provided [RCV000173256]	Chr6:1610833 [GRCh38] Chr6:1611068 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000008981]	Chr6:1610803 [GRCh38] Chr6:1611038 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV000023070]\|Axenfeld-Rieger syndrome type 3 [RCV001087974]\|not provided [RCV000162086]\|not specified [RCV000153259]	Chr6:1611334 [GRCh38] Chr6:1611569 [GRCh37] Chr6:6p25.3	pathogenic\|benign
GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	copy number loss	See cases [RCV000050686]	Chr6:163083..6062800 [GRCh38] Chr6:163083..6063033 [GRCh37] Chr6:108083..6008032 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3(chr6:163083-1951351)x3	copy number gain	See cases [RCV000050603]	Chr6:163083..1951351 [GRCh38] Chr6:163083..1951585 [GRCh37] Chr6:108083..1896584 [NCBI36] Chr6:6p25.3	pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	copy number gain	See cases [RCV000051896]	Chr6:389423..13474956 [GRCh38] Chr6:389423..13475188 [GRCh37] Chr6:334423..13583167 [NCBI36] Chr6:6p25.3-23	pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	copy number gain	See cases [RCV000051869]	Chr6:106431..18360595 [GRCh38] Chr6:106431..18360826 [GRCh37] Chr6:51431..18468805 [NCBI36] Chr6:6p25.3-22.3	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	copy number gain	See cases [RCV000051870]	Chr6:144957..5239181 [GRCh38] Chr6:144957..5239414 [GRCh37] Chr6:89957..5184413 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3(chr6:1093293-2155578)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052246]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052246]\|See cases [RCV000052246]	Chr6:1093293..2155578 [GRCh38] Chr6:1093528..2155812 [GRCh37] Chr6:1038528..2100811 [NCBI36] Chr6:6p25.3	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	copy number loss	See cases [RCV000052159]	Chr6:107682..4978781 [GRCh38] Chr6:107682..4979015 [GRCh37] Chr6:52682..4924014 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:162883-5979198)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]\|See cases [RCV000052160]	Chr6:162883..5979198 [GRCh38] Chr6:162883..5979431 [GRCh37] Chr6:107883..5924430 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	copy number loss	See cases [RCV000052161]	Chr6:163083..5875402 [GRCh38] Chr6:163083..5875635 [GRCh37] Chr6:108083..5820634 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	copy number loss	See cases [RCV000052162]	Chr6:163083..2724611 [GRCh38] Chr6:163083..2724845 [GRCh37] Chr6:108083..2669844 [NCBI36] Chr6:6p25.3-25.2	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	copy number loss	See cases [RCV000052163]	Chr6:164633..6284237 [GRCh38] Chr6:164633..6284470 [GRCh37] Chr6:109633..6229469 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	copy number loss	See cases [RCV000052164]	Chr6:164633..5823601 [GRCh38] Chr6:164633..5823834 [GRCh37] Chr6:109633..5768833 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	copy number loss	See cases [RCV000052165]	Chr6:165675..9036034 [GRCh38] Chr6:165675..9036267 [GRCh37] Chr6:110675..8981266 [NCBI36] Chr6:6p25.3-24.3	pathogenic
GRCh38/hg38 6p25.3-25.2(chr6:1490636-2700006)x1	copy number loss	See cases [RCV000052175]	Chr6:1490636..2700006 [GRCh38] Chr6:1490871..2700240 [GRCh37] Chr6:1435870..2645239 [NCBI36] Chr6:6p25.3-25.2	pathogenic
GRCh38/hg38 6p25.3(chr6:1605533-1739699)x1	copy number loss	See cases [RCV000052176]	Chr6:1605533..1739699 [GRCh38] Chr6:1605768..1739933 [GRCh37] Chr6:1550767..1684932 [NCBI36] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.921C>T (p.Gly307=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000873223]\|not provided [RCV004546449]\|not specified [RCV000173254]	Chr6:1611366 [GRCh38] Chr6:1611601 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.1142_1144dup (p.Ala381dup)	duplication	not specified [RCV000173257]	Chr6:1611585..1611586 [GRCh38] Chr6:1611820..1611821 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001521230]\|not provided [RCV001610481]\|not specified [RCV000173259]	Chr6:1611567..1611568 [GRCh38] Chr6:1611802..1611803 [GRCh37] Chr6:6p25.3	benign
Single allele	duplication	not specified [RCV000173260]	Chr6:1612039..1612040 [GRCh37]	benign
NM_001453.2(FOXC1):c.1138_1140dupGGC (p.Gly380_Ala381insGly)	duplication	not specified [RCV000079683]	Chr6:1611583..1611585 [GRCh38] Chr6:1611818..1611820 [GRCh37] Chr6:6p25.3	benign\|uncertain significance
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup)	microsatellite	Anterior segment dysgenesis 3 [RCV001701736]\|Axenfeld-Rieger syndrome type 3 [RCV001510677]\|not specified [RCV000079684]	Chr6:1611782..1611783 [GRCh38] Chr6:1612017..1612018 [GRCh37] Chr6:6p25.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.171G>C (p.Pro57=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002516581]\|not provided [RCV000173252]	Chr6:1610616 [GRCh38] Chr6:1610851 [GRCh37] Chr6:6p25.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.279C>T (p.Asn93=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002517662]\|not provided [RCV000173253]	Chr6:1610724 [GRCh38] Chr6:1610959 [GRCh37] Chr6:6p25.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002054046]\|FOXC1-related disorder [RCV003947460]\|not provided [RCV000173255]	Chr6:1610523 [GRCh38] Chr6:1610758 [GRCh37] Chr6:6p25.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001517453]\|not provided [RCV002225491]\|not specified [RCV000173258]	Chr6:1611783..1611785 [GRCh38] Chr6:1612018..1612020 [GRCh37] Chr6:6p25.3	benign\|likely benign\|uncertain significance
GRCh38/hg38 6p25.3(chr6:1580446-1951292)x1	copy number loss	See cases [RCV000133623]	Chr6:1580446..1951292 [GRCh38] Chr6:1580681..1951526 [GRCh37] Chr6:1525680..1896525 [NCBI36] Chr6:6p25.3	pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	copy number gain	See cases [RCV000134022]	Chr6:164360..13339881 [GRCh38] Chr6:164360..13340113 [GRCh37] Chr6:109360..13448092 [NCBI36] Chr6:6p25.3-24.1	pathogenic
GRCh38/hg38 6p25.3-25.2(chr6:1441186-2351374)x1	copy number loss	See cases [RCV000135701]	Chr6:1441186..2351374 [GRCh38] Chr6:1441421..2351608 [GRCh37] Chr6:1386420..2296607 [NCBI36] Chr6:6p25.3-25.2	pathogenic
GRCh38/hg38 6p25.3(chr6:163083-2029531)x3	copy number gain	See cases [RCV000135617]	Chr6:163083..2029531 [GRCh38] Chr6:163083..2029765 [GRCh37] Chr6:108083..1974764 [NCBI36] Chr6:6p25.3	pathogenic\|uncertain significance
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	copy number gain	See cases [RCV000136567]	Chr6:163083..9525496 [GRCh38] Chr6:163083..9525729 [GRCh37] Chr6:108083..9633715 [NCBI36] Chr6:6p25.3-24.3	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	copy number loss	See cases [RCV000137496]	Chr6:152634..5315679 [GRCh38] Chr6:152634..5315912 [GRCh37] Chr6:97634..5260911 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	copy number loss	See cases [RCV000138184]	Chr6:163083..3459607 [GRCh38] Chr6:163083..3459841 [GRCh37] Chr6:108083..3404840 [NCBI36] Chr6:6p25.3-25.2	pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3	copy number gain	See cases [RCV000138121]	Chr6:152634..15732163 [GRCh38] Chr6:152634..15732394 [GRCh37] Chr6:97634..15840373 [NCBI36] Chr6:6p25.3-22.3	likely benign
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	copy number gain	See cases [RCV000138716]	Chr6:152634..6027547 [GRCh38] Chr6:152634..6027780 [GRCh37] Chr6:97634..5972779 [NCBI36] Chr6:6p25.3-25.1	likely pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	copy number loss	See cases [RCV000138717]	Chr6:152634..6027547 [GRCh38] Chr6:152634..6027780 [GRCh37] Chr6:97634..5972779 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3-25.2(chr6:1490637-2677489)x3	copy number gain	See cases [RCV000139186]	Chr6:1490637..2677489 [GRCh38] Chr6:1490872..2677723 [GRCh37] Chr6:1435871..2622722 [NCBI36] Chr6:6p25.3-25.2	uncertain significance
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	copy number gain	See cases [RCV000140307]	Chr6:155807..17058414 [GRCh38] Chr6:155807..17058645 [GRCh37] Chr6:100807..17166624 [NCBI36] Chr6:6p25.3-22.3	pathogenic
GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	copy number loss	See cases [RCV000140309]	Chr6:170426..1621983 [GRCh38] Chr6:170426..1622218 [GRCh37] Chr6:115426..1567217 [NCBI36] Chr6:6p25.3	pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	copy number gain	See cases [RCV000142295]	Chr6:156974..11550817 [GRCh38] Chr6:156974..11551050 [GRCh37] Chr6:101974..11659036 [NCBI36] Chr6:6p25.3-24.2	likely pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	copy number loss	See cases [RCV000142299]	Chr6:156974..7122759 [GRCh38] Chr6:156974..7122992 [GRCh37] Chr6:101974..7067991 [NCBI36] Chr6:6p25.3-24.3	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	copy number loss	See cases [RCV000142304]	Chr6:156974..4907692 [GRCh38] Chr6:156974..4907926 [GRCh37] Chr6:101974..4852925 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	copy number loss	See cases [RCV000142916]	Chr6:152634..6289804 [GRCh38] Chr6:152634..6290037 [GRCh37] Chr6:97634..6235036 [NCBI36] Chr6:6p25.3-25.1	pathogenic
GRCh38/hg38 6p25.3(chr6:1365202-1627578)x3	copy number gain	See cases [RCV000143061]	Chr6:1365202..1627578 [GRCh38] Chr6:1365437..1627813 [GRCh37] Chr6:1310436..1572812 [NCBI36] Chr6:6p25.3	uncertain significance
GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	copy number gain	See cases [RCV000143375]	Chr6:156974..4946857 [GRCh38] Chr6:156974..4947091 [GRCh37] Chr6:101974..4892090 [NCBI36] Chr6:6p25.3-25.1	uncertain significance
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	copy number gain	See cases [RCV000143334]	Chr6:152634..14417003 [GRCh38] Chr6:152634..14417234 [GRCh37] Chr6:97634..14525213 [NCBI36] Chr6:6p25.3-23	pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	copy number gain	See cases [RCV000143698]	Chr6:156974..13081201 [GRCh38] Chr6:156974..13081433 [GRCh37] Chr6:101974..13189419 [NCBI36] Chr6:6p25.3-24.1	likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	copy number loss	See cases [RCV000143782]	Chr6:156974..13855925 [GRCh38] Chr6:156974..13856156 [GRCh37] Chr6:101974..13964135 [NCBI36] Chr6:6p25.3-23	pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
NM_001453.3(FOXC1):c.405C>T (p.Cys135=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000558293]\|not provided [RCV001528073]\|not specified [RCV000153257]	Chr6:1610850 [GRCh38] Chr6:1611085 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.502C>T (p.Leu168=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001513299]\|FOXC1-related disorder [RCV003917500]\|not provided [RCV000646230]\|not specified [RCV000153258]	Chr6:1610947 [GRCh38] Chr6:1611182 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000555470]\|not provided [RCV001610464]\|not specified [RCV000153260]	Chr6:1612008 [GRCh38] Chr6:1612243 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.263C>T (p.Thr88Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293421]\|not provided [RCV000153256]	Chr6:1610708 [GRCh38] Chr6:1610943 [GRCh37] Chr6:6p25.3	likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.*734A>T	single nucleotide variant	FOXC1-related disorder [RCV004752767]\|not provided [RCV000162082]\|not specified [RCV002247558]	Chr6:1612841 [GRCh38] Chr6:1613076 [GRCh37] Chr6:6p25.3	pathogenic\|benign\|uncertain significance
NM_001453.3(FOXC1):c.-244C>T	single nucleotide variant	Anterior segment dysgenesis 3 [RCV000991164]\|not provided [RCV000162083]	Chr6:1610202 [GRCh38] Chr6:1610437 [GRCh37] Chr6:6p25.3	pathogenic\|benign\|likely benign
NM_001453.3(FOXC1):c.-429C>G	single nucleotide variant	not provided [RCV000162084]\|not specified [RCV002247559]	Chr6:1610017 [GRCh38] Chr6:1610252 [GRCh37] Chr6:6p25.3	pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.1134_1144del (p.Gly380fs)	deletion	not provided [RCV000162085]	Chr6:1611575..1611585 [GRCh38] Chr6:1611810..1611820 [GRCh37] Chr6:6p25.3	pathogenic
NC_000006.10:g.1543591_1675085del131495	deletion	Congenital aniridia [RCV000257274]	Chr6:1598592..1730086 [GRCh37] Chr6:1543591..1675085 [NCBI36] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000700281]\|Axenfeld-Rieger syndrome type 3 [RCV005031595]\|not provided [RCV000190252]	Chr6:1610586 [GRCh38] Chr6:1610821 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.377T>G (p.Ile126Ser)	single nucleotide variant	not provided [RCV000190253]	Chr6:1610822 [GRCh38] Chr6:1611057 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002515806]\|Axenfeld-Rieger syndrome type 3 [RCV005031618]\|not provided [RCV000190274]	Chr6:1611781..1611782 [GRCh38] Chr6:1612016..1612017 [GRCh37] Chr6:6p25.3	pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000416497]\|not provided [RCV000255576]	Chr6:1610701 [GRCh38] Chr6:1610936 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.246C>G (p.Ser82Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293431]\|not provided [RCV000255621]	Chr6:1610691 [GRCh38] Chr6:1610926 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3	copy number gain	Brachydactyly type E1 [RCV000234962]	Chr6:255350..3189972 [GRCh37] Chr6:6p25.3-25.2	pathogenic
NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001869415]\|FOXC1-related disorder [RCV003918636]\|not provided [RCV000762251]	Chr6:1611568..1611570 [GRCh38] Chr6:1611803..1611805 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	copy number loss	See cases [RCV000240433]	Chr6:204009..11608587 [GRCh37] Chr6:6p25.3-24.1	pathogenic
GRCh37/hg19 6p25.3(chr6:180959-2180143)x1	copy number loss	See cases [RCV000240471]	Chr6:180959..2180143 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	copy number loss	See cases [RCV000240475]	Chr6:204009..6447311 [GRCh37] Chr6:6p25.3-25.1	pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	copy number gain	See cases [RCV000240460]	Chr6:168775..24023234 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001453.3(FOXC1):c.114C>T (p.Thr38=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002059203]\|FOXC1-related disorder [RCV003957462]\|not specified [RCV000339920]	Chr6:1610559 [GRCh38] Chr6:1610794 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.363C>T (p.Gly121=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002487245]\|not provided [RCV000309720]	Chr6:1610808 [GRCh38] Chr6:1611043 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.887C>G (p.Ala296Gly)	single nucleotide variant	not provided [RCV000380037]	Chr6:1611332 [GRCh38] Chr6:1611567 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.597C>G (p.Arg199=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003103753]\|not provided [RCV000313854]	Chr6:1611042 [GRCh38] Chr6:1611277 [GRCh37] Chr6:6p25.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.1050C>T (p.Leu350=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001510688]\|FOXC1-related disorder [RCV003957464]\|not specified [RCV000314639]	Chr6:1611495 [GRCh38] Chr6:1611730 [GRCh37] Chr6:6p25.3	benign\|likely benign\|uncertain significance
NM_001453.3(FOXC1):c.456G>A (p.Trp152Ter)	single nucleotide variant	not provided [RCV000330423]	Chr6:1610901 [GRCh38] Chr6:1611136 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.290dup (p.Lys98fs)	duplication	not provided [RCV000330894]	Chr6:1610733..1610734 [GRCh38] Chr6:1610968..1610969 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1349G>C (p.Gly450Ala)	single nucleotide variant	not provided [RCV000353167]	Chr6:1611794 [GRCh38] Chr6:1612029 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.537G>A (p.Ala179=)	single nucleotide variant	not provided [RCV000397550]	Chr6:1610982 [GRCh38] Chr6:1611217 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000813853]\|Axenfeld-Rieger syndrome type 3 [RCV002480030]\|Inborn genetic diseases [RCV004021205]\|not provided [RCV000262486]	Chr6:1611509 [GRCh38] Chr6:1611744 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.593_610del (p.Gly198_Pro203del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002504005]\|not provided [RCV000298648]	Chr6:1611027..1611044 [GRCh38] Chr6:1611262..1611279 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.254C>T (p.Ala85Val)	single nucleotide variant	not provided [RCV000490231]	Chr6:1610699 [GRCh38] Chr6:1610934 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.147C>T (p.His49=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002531080]\|not provided [RCV000594437]	Chr6:1610592 [GRCh38] Chr6:1610827 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000532837]\|not provided [RCV000488983]	Chr6:1610825 [GRCh38] Chr6:1611060 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.409_411del (p.Val137del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV000585863]	Chr6:1610852..1610854 [GRCh38] Chr6:1611087..1611089 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1015T>C (p.Ser339Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002476323]\|not provided [RCV000592707]	Chr6:1611460 [GRCh38] Chr6:1611695 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1297_1298del (p.Leu433fs)	microsatellite	not provided [RCV000598602]	Chr6:1611738..1611739 [GRCh38] Chr6:1611973..1611974 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.38T>G (p.Leu13Arg)	single nucleotide variant	not provided [RCV000723022]	Chr6:1610483 [GRCh38] Chr6:1610718 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV002061022]\|FOXC1-related disorder [RCV003892679]\|not provided [RCV000872001]\|not specified [RCV000735057]	Chr6:1611783..1611791 [GRCh38] Chr6:1612018..1612026 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.1338CGG[13] (p.Gly452_Gly456dup)	microsatellite	not provided [RCV000723064]	Chr6:1611782..1611783 [GRCh38] Chr6:1612017..1612018 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1124GCG[9] (p.Gly378_Gly380dup)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001068047]\|not provided [RCV000723100]	Chr6:1611567..1611568 [GRCh38] Chr6:1611802..1611803 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV000559210]\|FOXC1-related disorder [RCV003925670]\|not provided [RCV001573914]\|not specified [RCV000595267]	Chr6:1610526..1610534 [GRCh38] Chr6:1610761..1610769 [GRCh37] Chr6:6p25.3	benign\|likely benign\|uncertain significance
GRCh37/hg19 6p25.3-25.2(chr6:1490872-2667350)x3	copy number gain	See cases [RCV000449117]	Chr6:1490872..2667350 [GRCh37] Chr6:6p25.3-25.2	pathogenic
GRCh37/hg19 6p25.3(chr6:815829-1825305)x3	copy number gain	See cases [RCV000446107]	Chr6:815829..1825305 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3	copy number gain	See cases [RCV000446145]	Chr6:302272..18375047 [GRCh37] Chr6:6p25.3-22.3	pathogenic
GRCh37/hg19 6p25.3(chr6:1361743-1630467)x3	copy number gain	See cases [RCV000446268]	Chr6:1361743..1630467 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3(chr6:1600137-1864876)x1	copy number loss	See cases [RCV000446553]	Chr6:1600137..1864876 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1443C>T (p.Asp481=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002522445]\|not specified [RCV000435493]	Chr6:1611888 [GRCh38] Chr6:1612123 [GRCh37] Chr6:6p25.3	likely benign
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3	copy number gain	See cases [RCV000445742]	Chr6:156974..8349511 [GRCh37] Chr6:6p25.3-24.3	pathogenic
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3	copy number gain	Axenfeld-Rieger syndrome type 3 [RCV000416532]	Chr6:951385..1832936 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000416548]	Chr6:1611936 [GRCh38] Chr6:1612171 [GRCh37] Chr6:6p25.3	pathogenic
NC_000006.12:g.(?_1610445)_(1612107_?)del	deletion	Axenfeld-Rieger syndrome type 3 [RCV000416555]	Chr6:1610445..1612107 [GRCh38] Chr6:1610680..1612342 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000416495]\|not provided [RCV001567276]	Chr6:1610761 [GRCh38] Chr6:1610996 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.925_949del (p.Ser309fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV000416504]	Chr6:1611369..1611393 [GRCh38] Chr6:1611604..1611628 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV000416505]\|not provided [RCV001584112]	Chr6:1611038..1611056 [GRCh38] Chr6:1611273..1611291 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV000416515]	Chr6:1610545..1610554 [GRCh38] Chr6:1610780..1610789 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV000416521]\|Hypertelorism and tetralogy of fallot [RCV001267710]	Chr6:1611110..1611125 [GRCh38] Chr6:1611345..1611360 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000416522]	Chr6:1610713 [GRCh38] Chr6:1610948 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000416526]	Chr6:1610902 [GRCh38] Chr6:1611137 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000416528]	Chr6:1611710 [GRCh38] Chr6:1611945 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.116_123del (p.Ala39fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV000416537]	Chr6:1610558..1610565 [GRCh38] Chr6:1610793..1610800 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000416542]\|not provided [RCV004721350]	Chr6:1610714 [GRCh38] Chr6:1610949 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV002272227]	Chr6:1610932 [GRCh38] Chr6:1611167 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)	deletion	Anterior segment dysgenesis 3 [RCV004594054]\|Axenfeld-Rieger syndrome type 3 [RCV000416550]	Chr6:1611163..1611164 [GRCh38] Chr6:1611398..1611399 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1	copy number loss	See cases [RCV000510370]	Chr6:383951..4183288 [GRCh37] Chr6:6p25.3-25.2	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3(chr6:195229-2117379)x1	copy number loss	See cases [RCV000510359]	Chr6:195229..2117379 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3(chr6:156974-2030623)x1	copy number loss	See cases [RCV000511982]	Chr6:156974..2030623 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	copy number loss	See cases [RCV000511093]	Chr6:156974..6417749 [GRCh37] Chr6:6p25.3-25.1	pathogenic
GRCh37/hg19 6p25.3(chr6:1305572-1825339)x3	copy number gain	See cases [RCV000510952]	Chr6:1305572..1825339 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.772G>T (p.Glu258Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003619688]\|not provided [RCV000521092]	Chr6:1611217 [GRCh38] Chr6:1611452 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.192C>G (p.Tyr64Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000495841]	Chr6:1610637 [GRCh38] Chr6:1610872 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.753C>T (p.Ala251=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000646222]	Chr6:1611198 [GRCh38] Chr6:1611433 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs)	indel	Axenfeld-Rieger syndrome type 3 [RCV000646224]	Chr6:1611587..1611589 [GRCh38] Chr6:1611822..1611824 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1189C>T (p.Leu397=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002060757]\|not provided [RCV004597844]	Chr6:1611634 [GRCh38] Chr6:1611869 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1338CGG[10] (p.Gly455_Gly456dup)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV000540612]\|FOXC1-related disorder [RCV003962542]\|not specified [RCV001731769]	Chr6:1611782..1611783 [GRCh38] Chr6:1612017..1612018 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.605C>T (p.Pro202Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005036719]\|Inborn genetic diseases [RCV003270926]	Chr6:1611050 [GRCh38] Chr6:1611285 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000557071]	Chr6:1611252 [GRCh38] Chr6:1611487 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1229del (p.Gly410fs)	deletion	not provided [RCV000627526]	Chr6:1611670 [GRCh38] Chr6:1611905 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.745G>C (p.Gly249Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003777099]\|Inborn genetic diseases [RCV003305306]	Chr6:1611190 [GRCh38] Chr6:1611425 [GRCh37] Chr6:6p25.3	uncertain significance
NC_000006.12:g.(?_1610426)_(1612841_?)del	deletion	Axenfeld-Rieger syndrome type 3 [RCV000556096]	Chr6:1610426..1612841 [GRCh38] Chr6:1610661..1613076 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.532G>C (p.Asp178His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000536750]\|Axenfeld-Rieger syndrome type 3 [RCV000765882]\|Inborn genetic diseases [RCV002526166]	Chr6:1610977 [GRCh38] Chr6:1611212 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.1432G>A (p.Ala478Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005102520]\|Inborn genetic diseases [RCV003248017]	Chr6:1611877 [GRCh38] Chr6:1612112 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000646223]	Chr6:1610801 [GRCh38] Chr6:1611036 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000646225]	Chr6:1610680 [GRCh38] Chr6:1610915 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.380G>A (p.Arg127His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000646226]\|FOXC1-related disorder [RCV003411525]	Chr6:1610825 [GRCh38] Chr6:1611060 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000646227]\|Inborn genetic diseases [RCV002533271]	Chr6:1611599 [GRCh38] Chr6:1611834 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.957del (p.Ser320fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV000646228]	Chr6:1611398 [GRCh38] Chr6:1611633 [GRCh37] Chr6:6p25.3	pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.474C>T (p.Ser158=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002062004]\|FOXC1-related disorder [RCV003945377]\|not provided [RCV000596026]	Chr6:1610919 [GRCh38] Chr6:1611154 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.349del (p.Asp117fs)	deletion	Anterior segment dysgenesis 3 [RCV000585805]	Chr6:1610792 [GRCh38] Chr6:1611027 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	copy number loss	not provided [RCV000682627]	Chr6:156974..3398920 [GRCh37] Chr6:6p25.3-25.2	pathogenic
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	copy number gain	not provided [RCV000682628]	Chr6:156974..13502033 [GRCh37] Chr6:6p25.3-23	pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	copy number gain	not provided [RCV000682629]	Chr6:156974..21955964 [GRCh37] Chr6:6p25.3-22.3	pathogenic
GRCh37/hg19 6p25.3(chr6:1361060-1616265)x3	copy number gain	not provided [RCV000682632]	Chr6:1361060..1616265 [GRCh37] Chr6:6p25.3	uncertain significance
Single allele	duplication	not provided [RCV000677944]	Chr6:168775..24023234 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV000688364]	Chr6:1610446..1613897 [GRCh38] Chr6:1610681..1614132 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000702669]\|Axenfeld-Rieger syndrome type 3 [RCV002485733]	Chr6:1611815 [GRCh38] Chr6:1612050 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup)	microsatellite	Anterior segment dysgenesis [RCV001200025]\|Axenfeld-Rieger syndrome type 3 [RCV000691768]	Chr6:1610948..1610949 [GRCh38] Chr6:1611183..1611184 [GRCh37] Chr6:6p25.3	likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_001453.3(FOXC1):c.246C>A (p.Ser82Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001650517]	Chr6:1610691 [GRCh38] Chr6:1610926 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001410368]\|not provided [RCV000960696]	Chr6:1611407 [GRCh38] Chr6:1611642 [GRCh37] Chr6:6p25.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.891C>T (p.Pro297=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005092655]	Chr6:1611336 [GRCh38] Chr6:1611571 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.846G>A (p.Pro282=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003509600]\|not provided [RCV000762250]	Chr6:1611291 [GRCh38] Chr6:1611526 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1124_1126GCG[5] (p.Ala381Glyfs)	microsatellite	not provided [RCV000762251]	Chr6:1611569..1611571 [GRCh38] Chr6:1611818..1611821 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.159C>T (p.Ala53=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002065716]	Chr6:1610604 [GRCh38] Chr6:1610839 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1282C>T (p.Leu428=)	single nucleotide variant	not provided [RCV000920770]	Chr6:1611727 [GRCh38] Chr6:1611962 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.843G>T (p.Arg281=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001505871]	Chr6:1611288 [GRCh38] Chr6:1611523 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.300C>G (p.Thr100=)	single nucleotide variant	not provided [RCV000921354]	Chr6:1610745 [GRCh38] Chr6:1610980 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1626G>A (p.Thr542=)	single nucleotide variant	not provided [RCV000899312]	Chr6:1612071 [GRCh38] Chr6:1612306 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.24C>T (p.Ser8=)	single nucleotide variant	not provided [RCV000923883]	Chr6:1610469 [GRCh38] Chr6:1610704 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.252C>T (p.Ile84=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003509621]	Chr6:1610697 [GRCh38] Chr6:1610932 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.451dup (p.Tyr151fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV001049764]	Chr6:1610895..1610896 [GRCh38] Chr6:1611130..1611131 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.236C>A (p.Pro79Gln)	single nucleotide variant	not provided [RCV003312642]	Chr6:1610681 [GRCh38] Chr6:1610916 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.262A>C (p.Thr88Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001046930]	Chr6:1610707 [GRCh38] Chr6:1610942 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	copy number loss	not provided [RCV003312671]	Chr6:393153..3751765 [GRCh37] Chr6:6p25.3-25.2	pathogenic
NM_001453.3(FOXC1):c.361G>A (p.Gly121Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000824988]	Chr6:1610806 [GRCh38] Chr6:1611041 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.718C>T (p.Leu240=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001473226]\|FOXC1-related disorder [RCV004753130]\|not provided [RCV004705949]	Chr6:1611163 [GRCh38] Chr6:1611398 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000877062]\|not provided [RCV003424421]	Chr6:1612095 [GRCh38] Chr6:1612330 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.144G>T (p.Ser48=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001485599]	Chr6:1610589 [GRCh38] Chr6:1610824 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.207G>T (p.Pro69=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000876092]	Chr6:1610652 [GRCh38] Chr6:1610887 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.573C>T (p.Leu191=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003619731]	Chr6:1611018 [GRCh38] Chr6:1611253 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.1453T>C (p.Leu485=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001520462]\|not provided [RCV000865408]	Chr6:1611898 [GRCh38] Chr6:1612133 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.864G>A (p.Ala288=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002540162]	Chr6:1611309 [GRCh38] Chr6:1611544 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000793577]	Chr6:1610789 [GRCh38] Chr6:1611024 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000806635]	Chr6:1610931 [GRCh38] Chr6:1611166 [GRCh37] Chr6:6p25.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000817211]	Chr6:1610953 [GRCh38] Chr6:1611188 [GRCh37] Chr6:6p25.3	pathogenic\|uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	copy number gain	not provided [RCV000848108]	Chr6:156974..23221621 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001453.3(FOXC1):c.301_331del (p.Leu101fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001067954]	Chr6:1610743..1610773 [GRCh38] Chr6:1610978..1611008 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.712dup (p.Gln238fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV001213979]	Chr6:1611153..1611154 [GRCh38] Chr6:1611388..1611389 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001210632]\|Axenfeld-Rieger syndrome type 3 [RCV002491645]	Chr6:1611568..1611573 [GRCh38] Chr6:1611803..1611808 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.89C>T (p.Ala30Val)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV001250450]	Chr6:1610534 [GRCh38] Chr6:1610769 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.290AGA[1] (p.Lys98del)	microsatellite	not provided [RCV000998509]	Chr6:1610734..1610736 [GRCh38] Chr6:1610969..1610971 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1399C>T (p.Gln467Ter)	single nucleotide variant	Anterior segment dysgenesis [RCV001200031]\|Axenfeld-Rieger syndrome type 3 [RCV001859212]	Chr6:1611844 [GRCh38] Chr6:1612079 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.697del (p.Cys233fs)	deletion	Glaucoma of childhood [RCV001250453]	Chr6:1611142 [GRCh38] Chr6:1611377 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.20dup (p.Ser8fs)	duplication	not provided [RCV001008060]	Chr6:1610464..1610465 [GRCh38] Chr6:1610699..1610700 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.728C>T (p.Ala243Val)	single nucleotide variant	Inborn genetic diseases [RCV003272610]	Chr6:1611173 [GRCh38] Chr6:1611408 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3(chr6:491126-1624775)	copy number loss	Axenfeld-Rieger syndrome type 3 [RCV003236720]	Chr6:491126..1624775 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002568306]\|not provided [RCV001549455]	Chr6:1610817 [GRCh38] Chr6:1611052 [GRCh37] Chr6:6p25.3	likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.1338_1339insCGG (p.His446_Gly447insArg)	insertion	not provided [RCV001665245]	Chr6:1611783..1611784 [GRCh38] Chr6:1612018..1612019 [GRCh37] Chr6:6p25.3	benign
NC_000006.11:g.(?_1609367)_(1610939_?)del	deletion	Axenfeld-Rieger syndrome type 3 [RCV003107399]	Chr6:1609367..1610939 [GRCh37] Chr6:6p25.3	pathogenic
NC_000006.11:g.(?_1610666)_(1612017_?)del	deletion	Axenfeld-Rieger syndrome type 3 [RCV003107400]	Chr6:1610666..1612017 [GRCh37] Chr6:6p25.3	pathogenic
NC_000006.11:g.(?_1610681)_(1612342_?)del	deletion	Axenfeld-Rieger syndrome type 3 [RCV003107401]	Chr6:1610681..1612342 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1009_1012dup (p.Ala338fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV004556155]	Chr6:1611451..1611452 [GRCh38] Chr6:1611686..1611687 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.235C>A (p.Pro79Thr)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV004556158]	Chr6:1610680 [GRCh38] Chr6:1610915 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.*52G>A	single nucleotide variant	not provided [RCV001671202]	Chr6:1612159 [GRCh38] Chr6:1612394 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.1359_1360insCGG (p.Gly453_Gly454insArg)	insertion	not provided [RCV001644272]	Chr6:1611804..1611805 [GRCh38] Chr6:1612039..1612040 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002495858]\|Axenfeld-Rieger syndrome type 3 [RCV002568183]\|not provided [RCV001530994]	Chr6:1612045 [GRCh38] Chr6:1612280 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1230C>T (p.Gly410=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002066347]	Chr6:1611675 [GRCh38] Chr6:1611910 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1032C>A (p.Ile344=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000930440]	Chr6:1611477 [GRCh38] Chr6:1611712 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.705G>T (p.Ser235=)	single nucleotide variant	not provided [RCV000896839]	Chr6:1611150 [GRCh38] Chr6:1611385 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.195G>A (p.Gly65=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002536268]	Chr6:1610640 [GRCh38] Chr6:1610875 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.786C>T (p.Ser262=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001476017]\|not provided [RCV003884812]	Chr6:1611231 [GRCh38] Chr6:1611466 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.536C>G (p.Ala179Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001034861]	Chr6:1610981 [GRCh38] Chr6:1611216 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3(chr6:156974-2208360)x1	copy number loss	not provided [RCV001005754]	Chr6:156974..2208360 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.456G>T (p.Trp152Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001198073]	Chr6:1610901 [GRCh38] Chr6:1611136 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1089C>T (p.Ser363=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002542117]	Chr6:1611534 [GRCh38] Chr6:1611769 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.444G>A (p.Lys148=)	single nucleotide variant	not provided [RCV000935226]	Chr6:1610889 [GRCh38] Chr6:1611124 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.333C>T (p.Arg111=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV000889225]\|FOXC1-related disorder [RCV003940630]	Chr6:1610778 [GRCh38] Chr6:1611013 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.-303C>T	single nucleotide variant	not provided [RCV003230140]	Chr6:1610143 [GRCh38] Chr6:1610378 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.241_243del (p.Tyr81del)	deletion	Anterior segment dysgenesis 3 [RCV002250991]	Chr6:1610686..1610688 [GRCh38] Chr6:1610921..1610923 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1139_1140insGCG (p.Gly380_Ala381insArg)	insertion	not provided [RCV001636577]	Chr6:1611583..1611584 [GRCh38] Chr6:1611818..1611819 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.1102_1109del (p.Thr368fs)	deletion	not provided [RCV001590772]	Chr6:1611543..1611550 [GRCh38] Chr6:1611778..1611785 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.418C>T (p.Pro140Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002476892]\|not provided [RCV001591474]	Chr6:1610863 [GRCh38] Chr6:1611098 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.-417del	deletion	not provided [RCV001595119]	Chr6:1610016 [GRCh38] Chr6:1610251 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.544G>A (p.Asp182Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002579492]\|Inborn genetic diseases [RCV002579493]\|not provided [RCV001590511]	Chr6:1610989 [GRCh38] Chr6:1611224 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.392C>G (p.Ser131Trp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001171547]\|not provided [RCV001529509]	Chr6:1610837 [GRCh38] Chr6:1611072 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002539581]\|not provided [RCV001649499]	Chr6:1611656 [GRCh38] Chr6:1611891 [GRCh37] Chr6:6p25.3	benign\|uncertain significance
NM_001453.3(FOXC1):c.655C>T (p.Pro219Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001197446]	Chr6:1611100 [GRCh38] Chr6:1611335 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.518G>A (p.Arg173His)	single nucleotide variant	Anterior segment dysgenesis [RCV001200026]	Chr6:1610963 [GRCh38] Chr6:1611198 [GRCh37] Chr6:6p25.3	likely pathogenic
GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3	copy number gain	Anterior segment dysgenesis 3 [RCV001250451]	Chr6:1318643..1837594 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3(chr6:1347995-1713458)x3	copy number gain	Late onset congenital glaucoma [RCV001250452]	Chr6:1347995..1713458 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.695C>T (p.Thr232Met)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001064027]	Chr6:1611140 [GRCh38] Chr6:1611375 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.367C>T (p.Gln123Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001064648]	Chr6:1610812 [GRCh38] Chr6:1611047 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.478_482dup (p.Met161fs)	duplication	Anterior segment dysgenesis [RCV001200042]	Chr6:1610922..1610923 [GRCh38] Chr6:1611157..1611158 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.752_759del (p.Ala251fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001062756]	Chr6:1611194..1611201 [GRCh38] Chr6:1611429..1611436 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.205C>G (p.Pro69Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001063141]	Chr6:1610650 [GRCh38] Chr6:1610885 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.405C>A (p.Cys135Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001063142]	Chr6:1610850 [GRCh38] Chr6:1611085 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3(chr6:152849-1888703)x1	copy number loss	See cases [RCV001263042]	Chr6:152849..1888703 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	copy number gain	not provided [RCV001259379]	Chr6:302183..3290583 [GRCh37] Chr6:6p25.3-25.2	pathogenic
NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001870719]\|Axenfeld-Rieger syndrome type 3 [RCV002490048]	Chr6:1611227..1611228 [GRCh38] Chr6:1611462..1611463 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.448del (p.Ser150fs)	deletion	not provided [RCV001268417]	Chr6:1610893 [GRCh38] Chr6:1611128 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1157del (p.Gly386fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001281365]	Chr6:1611597 [GRCh38] Chr6:1611832 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.587_638del (p.Pro196fs)	deletion	not provided [RCV001354281]	Chr6:1611031..1611082 [GRCh38] Chr6:1611266..1611317 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.468G>A (p.Pro156=)	single nucleotide variant	not provided [RCV001310893]	Chr6:1610913 [GRCh38] Chr6:1611148 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.*105C>A	single nucleotide variant	not provided [RCV001538906]	Chr6:1612212 [GRCh38] Chr6:1612447 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.836C>T (p.Ser279Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001324145]	Chr6:1611281 [GRCh38] Chr6:1611516 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.387C>A (p.Asn129Lys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001353179]	Chr6:1610832 [GRCh38] Chr6:1611067 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	copy number gain	not provided [RCV001537932]	Chr6:149619..3951208 [GRCh37] Chr6:6p25.3-25.2	pathogenic
NC_000006.11:g.(?_1606319)_1611558del	deletion	Axenfeld-Rieger syndrome type 3 [RCV001384406]		pathogenic
NM_001453.3(FOXC1):c.1629C>T (p.Ser543=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001487127]	Chr6:1612074 [GRCh38] Chr6:1612309 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.244dup (p.Ser82fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV001384841]	Chr6:1610688..1610689 [GRCh38] Chr6:1610923..1610924 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1386C>T (p.His462=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001446263]	Chr6:1611831 [GRCh38] Chr6:1612066 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.4C>T (p.Gln2Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002250999]	Chr6:1610449 [GRCh38] Chr6:1610684 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.81_100del (p.Ala28fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001386059]\|not provided [RCV003154030]	Chr6:1610523..1610542 [GRCh38] Chr6:1610758..1610777 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.712C>T (p.Gln238Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001390991]	Chr6:1611157 [GRCh38] Chr6:1611392 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.-418_-417del	deletion	not provided [RCV001609655]	Chr6:1610016..1610017 [GRCh38] Chr6:1610251..1610252 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.-244C>G	single nucleotide variant	not provided [RCV001530571]	Chr6:1610202 [GRCh38] Chr6:1610437 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.1173G>T (p.Gly391=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001479086]	Chr6:1611618 [GRCh38] Chr6:1611853 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.708G>A (p.Pro236=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001476414]	Chr6:1611153 [GRCh38] Chr6:1611388 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.51del (p.Tyr18fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001383808]	Chr6:1610494 [GRCh38] Chr6:1610729 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1337A>G (p.His446Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001725857]\|Axenfeld-Rieger syndrome type 3 [RCV002488486]\|Inborn genetic diseases [RCV004980629]	Chr6:1611782 [GRCh38] Chr6:1612017 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.-296_*345del (p.Met1fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV004556152]	Chr6:1610150..1612452 [GRCh38] Chr6:1610385..1612687 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002272605]	Chr6:1610538..1610547 [GRCh38] Chr6:1610773..1610782 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1124_1125insGCG (p.Gly375_Gly376insArg)	insertion	not provided [RCV001762885]	Chr6:1611568..1611569 [GRCh38] Chr6:1611803..1611804 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.174del (p.Gly59fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002251078]	Chr6:1610619 [GRCh38] Chr6:1610854 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1059C>G (p.Tyr353Ter)	single nucleotide variant	not provided [RCV001783305]	Chr6:1611504 [GRCh38] Chr6:1611739 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1091C>G (p.Pro364Arg)	single nucleotide variant	not provided [RCV001751831]	Chr6:1611536 [GRCh38] Chr6:1611771 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1621C>G (p.Arg541Gly)	single nucleotide variant	not provided [RCV001752067]	Chr6:1612066 [GRCh38] Chr6:1612301 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.643G>A (p.Gly215Ser)	single nucleotide variant	not provided [RCV001774731]	Chr6:1611088 [GRCh38] Chr6:1611323 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1464GGC[7] (p.Ala495dup)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001882810]\|FOXC1-related disorder [RCV003416417]\|not provided [RCV001754220]	Chr6:1611906..1611907 [GRCh38] Chr6:1612141..1612142 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1452C>T (p.His484=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002077272]\|not provided [RCV001815949]	Chr6:1611897 [GRCh38] Chr6:1612132 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.890C>T (p.Pro297Leu)	single nucleotide variant	Inborn genetic diseases [RCV005327987]	Chr6:1611335 [GRCh38] Chr6:1611570 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.454T>C (p.Trp152Arg)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV001808295]	Chr6:1610899 [GRCh38] Chr6:1611134 [GRCh37] Chr6:6p25.3	likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.337_339dup (p.Pro113dup)	duplication	Anterior segment dysgenesis 3 [RCV001808279]	Chr6:1610780..1610781 [GRCh38] Chr6:1611015..1611016 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002044776]\|Axenfeld-Rieger syndrome type 3 [RCV002482437]\|Inborn genetic diseases [RCV004038901]	Chr6:1611314 [GRCh38] Chr6:1611549 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.986G>C (p.Ser329Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001929033]\|Inborn genetic diseases [RCV002558496]	Chr6:1611431 [GRCh38] Chr6:1611666 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV002040277]\|not provided [RCV002254975]	Chr6:1610921..1610923 [GRCh38] Chr6:1611156..1611158 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.820C>T (p.Pro274Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001864143]	Chr6:1611265 [GRCh38] Chr6:1611500 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001915053]	Chr6:1610477 [GRCh38] Chr6:1610712 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.207GCAGCC[3] (p.70QP[3])	microsatellite	Congenital anomaly of kidney and urinary tract [RCV001849729]	Chr6:1610648..1610649 [GRCh38] Chr6:1610883..1610884 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001885421]\|Axenfeld-Rieger syndrome type 3 [RCV002482394]\|Congenital anomaly of kidney and urinary tract [RCV001849731]	Chr6:1611368..1611382 [GRCh38] Chr6:1611603..1611617 [GRCh37] Chr6:6p25.3	likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.1139G>T (p.Gly380Val)	single nucleotide variant	Congenital anomaly of kidney and urinary tract [RCV001849736]	Chr6:1611584 [GRCh38] Chr6:1611819 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.399C>G (p.Asn133Lys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002006657]	Chr6:1610844 [GRCh38] Chr6:1611079 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.746G>T (p.Gly249Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001873939]\|Axenfeld-Rieger syndrome type 3 [RCV005038370]	Chr6:1611191 [GRCh38] Chr6:1611426 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.821dup (p.Ser276fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002002561]\|not provided [RCV003326599]	Chr6:1611260..1611261 [GRCh38] Chr6:1611495..1611496 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001894331]\|Axenfeld-Rieger syndrome type 3 [RCV002482489]	Chr6:1611698 [GRCh38] Chr6:1611933 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1231C>T (p.His411Tyr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001969724]\|not provided [RCV005242136]	Chr6:1611676 [GRCh38] Chr6:1611911 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1337_1338insTGG (p.Gly456dup)	insertion	Axenfeld-Rieger syndrome type 3 [RCV002022370]	Chr6:1611782..1611783 [GRCh38] Chr6:1612017..1612018 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.617C>G (p.Pro206Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001968208]	Chr6:1611062 [GRCh38] Chr6:1611297 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.176G>T (p.Gly59Val)	single nucleotide variant	Congenital anomaly of kidney and urinary tract [RCV001849728]	Chr6:1610621 [GRCh38] Chr6:1610856 [GRCh37] Chr6:6p25.3	likely pathogenic
GRCh37/hg19 6p25.3(chr6:1527437-1764940)	copy number gain	not specified [RCV002053546]	Chr6:1527437..1764940 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1124GCG[3] (p.Gly378_Gly380del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001891632]	Chr6:1611568..1611576 [GRCh38] Chr6:1611803..1611811 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.646C>A (p.Pro216Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001964687]\|Inborn genetic diseases [RCV004041813]	Chr6:1611091 [GRCh38] Chr6:1611326 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.37C>G (p.Leu13Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002022266]	Chr6:1610482 [GRCh38] Chr6:1610717 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.61G>T (p.Gly21Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001890040]	Chr6:1610506 [GRCh38] Chr6:1610741 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.*576A>C	single nucleotide variant	not provided [RCV002052367]	Chr6:1612683 [GRCh38] Chr6:1612918 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1412C>G (p.Thr471Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001985243]\|Inborn genetic diseases [RCV004043737]\|not provided [RCV003334059]	Chr6:1611857 [GRCh38] Chr6:1612092 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1639G>A (p.Val547Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001968482]	Chr6:1612084 [GRCh38] Chr6:1612319 [GRCh37] Chr6:6p25.3	likely benign
GRCh37/hg19 6p25.3(chr6:1397495-1927651)x3	copy number gain	not provided [RCV001827777]	Chr6:1397495..1927651 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001912913]\|Axenfeld-Rieger syndrome type 3 [RCV002503540]	Chr6:1611914 [GRCh38] Chr6:1612149 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3(chr6:1440644-1695652)x3	copy number gain	not provided [RCV001836567]	Chr6:1440644..1695652 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	copy number loss	not specified [RCV002053544]	Chr6:383951..3898619 [GRCh37] Chr6:6p25.3-25.2	pathogenic
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002543435]\|Congenital anomaly of kidney and urinary tract [RCV001849735]	Chr6:1611535 [GRCh38] Chr6:1611770 [GRCh37] Chr6:6p25.3	likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001948628]\|Axenfeld-Rieger syndrome type 3 [RCV002479484]	Chr6:1611253 [GRCh38] Chr6:1611488 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.275A>C (p.Gln92Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001966069]	Chr6:1610720 [GRCh38] Chr6:1610955 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.504GCG[4] (p.Arg173del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001843374]	Chr6:1610949..1610951 [GRCh38] Chr6:1611184..1611186 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001911433]\|Axenfeld-Rieger syndrome type 3 [RCV002490197]\|Inborn genetic diseases [RCV004041760]	Chr6:1611554 [GRCh38] Chr6:1611789 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.430AAG[1] (p.Lys145del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV005038357]\|Congenital anomaly of kidney and urinary tract [RCV001849730]	Chr6:1610875..1610877 [GRCh38] Chr6:1611110..1611112 [GRCh37] Chr6:6p25.3	likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.1025C>T (p.Ala342Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005040410]\|Congenital anomaly of kidney and urinary tract [RCV001849732]	Chr6:1611470 [GRCh38] Chr6:1611705 [GRCh37] Chr6:6p25.3	likely pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.979G>A (p.Glu327Lys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002000301]	Chr6:1611424 [GRCh38] Chr6:1611659 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.169C>T (p.Pro57Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001920423]\|Axenfeld-Rieger syndrome type 3 [RCV005038499]\|Inborn genetic diseases [RCV002555806]	Chr6:1610614 [GRCh38] Chr6:1610849 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.556_558del (p.Lys186del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001996846]	Chr6:1610999..1611001 [GRCh38] Chr6:1611234..1611236 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.603_614del (p.Pro203_Pro206del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001887746]	Chr6:1611045..1611056 [GRCh38] Chr6:1611280..1611291 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.327G>A (p.Met109Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001942805]	Chr6:1610772 [GRCh38] Chr6:1611007 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1148_1156del (p.Ala383_Gly385del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001939055]	Chr6:1611585..1611593 [GRCh38] Chr6:1611820..1611828 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.991G>A (p.Gly331Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002036687]	Chr6:1611436 [GRCh38] Chr6:1611671 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.180_181insA (p.Ala61fs)	insertion	Axenfeld-Rieger syndrome type 3 [RCV001918643]	Chr6:1610625..1610626 [GRCh38] Chr6:1610860..1610861 [GRCh37] Chr6:6p25.3	pathogenic
NC_000006.11:g.(?_1610681)_(1612342_?)dup	duplication	Axenfeld-Rieger syndrome type 3 [RCV001923729]	Chr6:1610681..1612342 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001942575]\|Axenfeld-Rieger syndrome type 3 [RCV002490020]	Chr6:1610993..1610995 [GRCh38] Chr6:1611228..1611230 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.605C>A (p.Pro202Gln)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001888353]	Chr6:1611050 [GRCh38] Chr6:1611285 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.927C>A (p.Ser309Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001943563]	Chr6:1611372 [GRCh38] Chr6:1611607 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.673G>A (p.Asp225Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001905217]\|Inborn genetic diseases [RCV003264146]	Chr6:1611118 [GRCh38] Chr6:1611353 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.802_803delinsCA (p.Ser268His)	indel	Axenfeld-Rieger syndrome type 3 [RCV001961709]	Chr6:1611247..1611248 [GRCh38] Chr6:1611482..1611483 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.103G>A (p.Gly35Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001943634]	Chr6:1610548 [GRCh38] Chr6:1610783 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001886551]\|Axenfeld-Rieger syndrome type 3 [RCV002478223]	Chr6:1611331 [GRCh38] Chr6:1611566 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1157G>C (p.Gly386Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001897833]	Chr6:1611602 [GRCh38] Chr6:1611837 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.754G>A (p.Ala252Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001935791]	Chr6:1611199 [GRCh38] Chr6:1611434 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001931235]\|Axenfeld-Rieger syndrome type 3 [RCV002503635]	Chr6:1611228..1611233 [GRCh38] Chr6:1611463..1611468 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002030274]\|Axenfeld-Rieger syndrome type 3 [RCV002486527]	Chr6:1611712 [GRCh38] Chr6:1611947 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.256_267del (p.Leu86_Met89del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002031799]	Chr6:1610700..1610711 [GRCh38] Chr6:1610935..1610946 [GRCh37] Chr6:6p25.3	pathogenic\|uncertain significance
NM_001453.3(FOXC1):c.566T>A (p.Leu189Gln)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002016539]	Chr6:1611011 [GRCh38] Chr6:1611246 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001932321]\|Axenfeld-Rieger syndrome type 3 [RCV002482516]	Chr6:1611766..1611768 [GRCh38] Chr6:1612001..1612003 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3])	duplication	Axenfeld-Rieger syndrome type 3 [RCV002014256]\|Axenfeld-Rieger syndrome type 3 [RCV002507796]	Chr6:1611600..1611601 [GRCh38] Chr6:1611835..1611836 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1124GCG[8] (p.Gly379_Gly380dup)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV001954593]\|not provided [RCV004809702]	Chr6:1611567..1611568 [GRCh38] Chr6:1611802..1611803 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001918369]\|Axenfeld-Rieger syndrome type 3 [RCV002484429]\|not provided [RCV004693931]	Chr6:1611691 [GRCh38] Chr6:1611926 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV001921870]\|Axenfeld-Rieger syndrome type 3 [RCV002482636]	Chr6:1612039..1612066 [GRCh38] Chr6:1612274..1612301 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1336C>G (p.His446Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002033311]	Chr6:1611781 [GRCh38] Chr6:1612016 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.143C>A (p.Ser48Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001956299]	Chr6:1610588 [GRCh38] Chr6:1610823 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.869C>A (p.Ser290Tyr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001938818]	Chr6:1611314 [GRCh38] Chr6:1611549 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.647C>A (p.Pro216Gln)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002018022]\|Inborn genetic diseases [RCV002548141]	Chr6:1611092 [GRCh38] Chr6:1611327 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001866932]\|Axenfeld-Rieger syndrome type 3 [RCV005038373]\|Inborn genetic diseases [RCV002545826]\|not provided [RCV003146262]	Chr6:1611931 [GRCh38] Chr6:1612166 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.509G>A (p.Arg170Gln)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001883576]	Chr6:1610954 [GRCh38] Chr6:1611189 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.755C>T (p.Ala252Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001923412]	Chr6:1611200 [GRCh38] Chr6:1611435 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1351_1352insCCG (p.Gly450_Gly451insAla)	insertion	Axenfeld-Rieger syndrome type 3 [RCV001961346]\|Axenfeld-Rieger syndrome type 3 [RCV005032040]\|not provided [RCV004694062]	Chr6:1611794..1611795 [GRCh38] Chr6:1612029..1612030 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1288G>A (p.Asp430Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002051471]	Chr6:1611733 [GRCh38] Chr6:1611968 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1403G>C (p.Gly468Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002031689]	Chr6:1611848 [GRCh38] Chr6:1612083 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.602C>A (p.Pro201His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002030180]	Chr6:1611047 [GRCh38] Chr6:1611282 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.571C>T (p.Leu191Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV001870069]	Chr6:1611016 [GRCh38] Chr6:1611251 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.906G>T (p.Pro302=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002085682]	Chr6:1611351 [GRCh38] Chr6:1611586 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1338CGG[6] (p.Gly455_Gly456del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV002130123]\|FOXC1-related disorder [RCV003933547]\|not provided [RCV003883784]	Chr6:1611783..1611788 [GRCh38] Chr6:1612018..1612023 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.534C>T (p.Asp178=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002107334]	Chr6:1610979 [GRCh38] Chr6:1611214 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1278C>T (p.Asp426=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002129225]	Chr6:1611723 [GRCh38] Chr6:1611958 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.819C>A (p.Pro273=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002108830]	Chr6:1611264 [GRCh38] Chr6:1611499 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.600G>C (p.Gln200His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002127243]	Chr6:1611045 [GRCh38] Chr6:1611280 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002207718]\|Axenfeld-Rieger syndrome type 3 [RCV002507917]	Chr6:1611778 [GRCh38] Chr6:1612013 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.1284G>A (p.Leu428=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002091540]	Chr6:1611729 [GRCh38] Chr6:1611964 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.351C>T (p.Asp117=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002167926]\|Axenfeld-Rieger syndrome type 3 [RCV002498144]	Chr6:1610796 [GRCh38] Chr6:1611031 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.735C>T (p.Ala245=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002189085]	Chr6:1611180 [GRCh38] Chr6:1611415 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.398_401del (p.Asn133fs)	deletion	Anterior segment dysgenesis 3 [RCV002249992]	Chr6:1610842..1610845 [GRCh38] Chr6:1611077..1611080 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.570C>T (p.His190=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002106011]	Chr6:1611015 [GRCh38] Chr6:1611250 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1464GGC[5] (p.Ala495del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV002085662]\|not provided [RCV003434403]	Chr6:1611907..1611909 [GRCh38] Chr6:1612142..1612144 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.498C>T (p.Ser166=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002207554]	Chr6:1610943 [GRCh38] Chr6:1611178 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.915C>T (p.Ser305=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002207736]	Chr6:1611360 [GRCh38] Chr6:1611595 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1338CGG[11] (p.Gly454_Gly456dup)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV002093860]\|FOXC1-related disorder [RCV003970998]	Chr6:1611782..1611783 [GRCh38] Chr6:1612017..1612018 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.736C>T (p.Leu246=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002087645]	Chr6:1611181 [GRCh38] Chr6:1611416 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.9G>T (p.Ala3=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002213868]\|FOXC1-related disorder [RCV003960932]	Chr6:1610454 [GRCh38] Chr6:1610689 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.660C>T (p.Pro220=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002149225]	Chr6:1611105 [GRCh38] Chr6:1611340 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1245G>T (p.Ala415=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002096208]	Chr6:1611690 [GRCh38] Chr6:1611925 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.567G>A (p.Leu189=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002114310]	Chr6:1611012 [GRCh38] Chr6:1611247 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.591C>T (p.Pro197=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002151217]	Chr6:1611036 [GRCh38] Chr6:1611271 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1575G>T (p.Gly525=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002153954]\|not provided [RCV004809791]	Chr6:1612020 [GRCh38] Chr6:1612255 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.783C>T (p.Asp261=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002197950]	Chr6:1611228 [GRCh38] Chr6:1611463 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1113G>T (p.Ala371=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002200132]	Chr6:1611558 [GRCh38] Chr6:1611793 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.18C>G (p.Ser6=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002218984]	Chr6:1610463 [GRCh38] Chr6:1610698 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.90C>G (p.Ala30=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002219830]	Chr6:1610535 [GRCh38] Chr6:1610770 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1074C>T (p.Ser358=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002175919]	Chr6:1611519 [GRCh38] Chr6:1611754 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.804C>G (p.Ser268=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002136021]	Chr6:1611249 [GRCh38] Chr6:1611484 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1638C>T (p.Phe546=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002175201]	Chr6:1612083 [GRCh38] Chr6:1612318 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1320C>G (p.Ser440Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002139622]\|FOXC1-related disorder [RCV004753513]\|Inborn genetic diseases [RCV003348802]	Chr6:1611765 [GRCh38] Chr6:1612000 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	copy number loss	Axenfeld-Rieger syndrome type 3 [RCV002221459]	Chr6:375263..3655142 [GRCh37] Chr6:6p25.3-25.2	pathogenic
NM_001453.3(FOXC1):c.1017C>T (p.Ser339=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002097771]	Chr6:1611462 [GRCh38] Chr6:1611697 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1170C>G (p.Ala390=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002178948]	Chr6:1611615 [GRCh38] Chr6:1611850 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.306C>T (p.Asn102=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002175987]	Chr6:1610751 [GRCh38] Chr6:1610986 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.*547G>A	single nucleotide variant	not provided [RCV002221719]		likely benign
NM_001453.3(FOXC1):c.1038C>G (p.Pro346=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002101380]	Chr6:1611483 [GRCh38] Chr6:1611718 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1464GGC[3] (p.Ala493_Ala495del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV002180563]\|not provided [RCV004546699]	Chr6:1611907..1611915 [GRCh38] Chr6:1612142..1612150 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.577G>A (p.Glu193Lys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003110603]\|Axenfeld-Rieger syndrome type 3 [RCV005036651]	Chr6:1611022 [GRCh38] Chr6:1611257 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.683C>T (p.Thr228Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003110241]	Chr6:1611128 [GRCh38] Chr6:1611363 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.733G>A (p.Ala245Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003118101]	Chr6:1611178 [GRCh38] Chr6:1611413 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1496G>C (p.Gly499Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003116914]	Chr6:1611941 [GRCh38] Chr6:1612176 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.632G>A (p.Gly211Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003116216]\|Axenfeld-Rieger syndrome type 3 [RCV005036669]	Chr6:1611077 [GRCh38] Chr6:1611312 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.315C>T (p.Tyr105=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003122079]	Chr6:1610760 [GRCh38] Chr6:1610995 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.910C>T (p.His304Tyr)	single nucleotide variant	not provided [RCV004778088]	Chr6:1611355 [GRCh38] Chr6:1611590 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.364T>G (p.Trp122Gly)	single nucleotide variant	See cases [RCV002252819]	Chr6:1610809 [GRCh38] Chr6:1611044 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1450C>T (p.His484Tyr)	single nucleotide variant	Alopecia, androgenetic, 1 [RCV002251310]	Chr6:1611895 [GRCh38] Chr6:1612130 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.241T>C (p.Tyr81His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293586]	Chr6:1610686 [GRCh38] Chr6:1610921 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.269C>T (p.Ala90Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293588]	Chr6:1610714 [GRCh38] Chr6:1610949 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.407T>C (p.Phe136Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293589]	Chr6:1610852 [GRCh38] Chr6:1611087 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.470A>T (p.Asp157Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293590]	Chr6:1610915 [GRCh38] Chr6:1611150 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1430del (p.Gln477fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002293584]	Chr6:1611875 [GRCh38] Chr6:1612110 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.176dup (p.Met60fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002293573]	Chr6:1610619..1610620 [GRCh38] Chr6:1610854..1610855 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.354del (p.Asn118fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002293575]	Chr6:1610799 [GRCh38] Chr6:1611034 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293576]	Chr6:1610811 [GRCh38] Chr6:1611046 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.502del (p.Leu168fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002293577]	Chr6:1610946 [GRCh38] Chr6:1611181 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.816_817delinsA (p.Ser272fs)	indel	Axenfeld-Rieger syndrome type 3 [RCV002293578]	Chr6:1611261..1611262 [GRCh38] Chr6:1611496..1611497 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.821del (p.Pro274fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002293579]	Chr6:1611261 [GRCh38] Chr6:1611496 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.965_977dup (p.Leu328fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002293580]	Chr6:1611404..1611405 [GRCh38] Chr6:1611639..1611640 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1141dup (p.Ala381fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002293582]	Chr6:1611585..1611586 [GRCh38] Chr6:1611820..1611821 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1193_1196dup (p.Met400fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002293583]	Chr6:1611635..1611636 [GRCh38] Chr6:1611870..1611871 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1508del (p.Asn503fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002293585]	Chr6:1611952 [GRCh38] Chr6:1612187 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.257T>G (p.Leu86Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293587]	Chr6:1610702 [GRCh38] Chr6:1610937 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.161del (p.Glu54fs)	deletion	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [RCV002291339]	Chr6:1610606 [GRCh38] Chr6:1610841 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1040dup (p.Leu348fs)	duplication	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [RCV002291341]\|Axenfeld-Rieger syndrome type 3 [RCV004796723]	Chr6:1611480..1611481 [GRCh38] Chr6:1611715..1611716 [GRCh37] Chr6:6p25.3	pathogenic\|likely pathogenic
NM_001453.3(FOXC1):c.392C>A (p.Ser131Ter)	single nucleotide variant	not provided [RCV002293646]	Chr6:1610837 [GRCh38] Chr6:1611072 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.65dup (p.Gln23fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002293572]	Chr6:1610509..1610510 [GRCh38] Chr6:1610744..1610745 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002293574]	Chr6:1610719 [GRCh38] Chr6:1610954 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1040C>G (p.Pro347Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002297182]\|not provided [RCV003236924]	Chr6:1611485 [GRCh38] Chr6:1611720 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.395T>C (p.Leu132Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002303804]	Chr6:1610840 [GRCh38] Chr6:1611075 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	copy number loss	not provided [RCV002474569]	Chr6:156975..3718881 [GRCh37] Chr6:6p25.3-25.2	pathogenic
NM_001453.3(FOXC1):c.930G>A (p.Val310=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002681280]	Chr6:1611375 [GRCh38] Chr6:1611610 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1077C>T (p.Ser359=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003012156]	Chr6:1611522 [GRCh38] Chr6:1611757 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1516T>G (p.Ser506Ala)	single nucleotide variant	Inborn genetic diseases [RCV002902467]	Chr6:1611961 [GRCh38] Chr6:1612196 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.609_614del (p.Ala204_Pro205del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002775884]\|Axenfeld-Rieger syndrome type 3 [RCV005034423]	Chr6:1611050..1611055 [GRCh38] Chr6:1611285..1611290 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.378C>A (p.Ile126=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003095623]	Chr6:1610823 [GRCh38] Chr6:1611058 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1004C>T (p.Ser335Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003777917]\|Inborn genetic diseases [RCV002905355]	Chr6:1611449 [GRCh38] Chr6:1611684 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1097G>T (p.Ser366Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002615567]	Chr6:1611542 [GRCh38] Chr6:1611777 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.206C>T (p.Pro69Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002858440]\|Axenfeld-Rieger syndrome type 3 [RCV005045017]	Chr6:1610651 [GRCh38] Chr6:1610886 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.307G>C (p.Gly103Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003034460]	Chr6:1610752 [GRCh38] Chr6:1610987 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.693T>C (p.Gly231=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002996295]\|FOXC1-related disorder [RCV003926650]	Chr6:1611138 [GRCh38] Chr6:1611373 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1218C>G (p.Gly406=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002731357]	Chr6:1611663 [GRCh38] Chr6:1611898 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.474dup (p.Tyr159fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002816555]	Chr6:1610917..1610918 [GRCh38] Chr6:1611152..1611153 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.122C>G (p.Pro41Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002863227]	Chr6:1610567 [GRCh38] Chr6:1610802 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002618315]	Chr6:1610552 [GRCh38] Chr6:1610787 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1045G>A (p.Ala349Thr)	single nucleotide variant	Inborn genetic diseases [RCV002883909]	Chr6:1611490 [GRCh38] Chr6:1611725 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1050C>G (p.Leu350=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002751346]	Chr6:1611495 [GRCh38] Chr6:1611730 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.135dup (p.Val46fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002863239]	Chr6:1610579..1610580 [GRCh38] Chr6:1610814..1610815 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.991G>C (p.Gly331Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002751626]	Chr6:1611436 [GRCh38] Chr6:1611671 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.559G>A (p.Asp187Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002971172]\|Axenfeld-Rieger syndrome type 3 [RCV005399043]	Chr6:1611004 [GRCh38] Chr6:1611239 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1180C>T (p.His394Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002731913]	Chr6:1611625 [GRCh38] Chr6:1611860 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.973_976dup (p.Ala326fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002861448]	Chr6:1611415..1611416 [GRCh38] Chr6:1611650..1611651 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1362G>C (p.Gly454=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002912549]	Chr6:1611807 [GRCh38] Chr6:1612042 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1061C>T (p.Ser354Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005036632]\|Inborn genetic diseases [RCV002758622]	Chr6:1611506 [GRCh38] Chr6:1611741 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.454T>G (p.Trp152Gly)	single nucleotide variant	not provided [RCV003037016]	Chr6:1610899 [GRCh38] Chr6:1611134 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1299G>A (p.Leu433=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003081432]	Chr6:1611744 [GRCh38] Chr6:1611979 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1334G>A (p.Ser445Asn)	single nucleotide variant	Inborn genetic diseases [RCV002708102]	Chr6:1611779 [GRCh38] Chr6:1612014 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.261C>T (p.Ile87=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002736455]	Chr6:1610706 [GRCh38] Chr6:1610941 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1199T>G (p.Met400Arg)	single nucleotide variant	Inborn genetic diseases [RCV002758547]	Chr6:1611644 [GRCh38] Chr6:1611879 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1039C>T (p.Pro347Ser)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV004725357]\|Axenfeld-Rieger syndrome type 3 [RCV002705467]	Chr6:1611484 [GRCh38] Chr6:1611719 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1046C>T (p.Ala349Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005036590]\|Inborn genetic diseases [RCV002925508]	Chr6:1611491 [GRCh38] Chr6:1611726 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.553G>C (p.Glu185Gln)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002659464]	Chr6:1610998 [GRCh38] Chr6:1611233 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.684C>A (p.Thr228=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003078548]	Chr6:1611129 [GRCh38] Chr6:1611364 [GRCh37] Chr6:6p25.3	likely benign
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	copy number gain	See cases [RCV002509885]	Chr6:820000..21700000 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001453.3(FOXC1):c.740_754del (p.Gly247_Ala251del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002909157]	Chr6:1611184..1611198 [GRCh38] Chr6:1611419..1611433 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.453C>G (p.Tyr151Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002846278]	Chr6:1610898 [GRCh38] Chr6:1611133 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.198C>T (p.Pro66=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003078599]	Chr6:1610643 [GRCh38] Chr6:1610878 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.163C>T (p.Gln55Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002923450]	Chr6:1610608 [GRCh38] Chr6:1610843 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.751G>A (p.Ala251Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002736353]	Chr6:1611196 [GRCh38] Chr6:1611431 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.148C>T (p.Pro50Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003078710]\|not provided [RCV003481389]	Chr6:1610593 [GRCh38] Chr6:1610828 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1063C>T (p.Pro355Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002948637]\|Axenfeld-Rieger syndrome type 3 [RCV005034511]	Chr6:1611508 [GRCh38] Chr6:1611743 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.735_758del (p.Leu246_Ala253del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002885524]	Chr6:1611172..1611195 [GRCh38] Chr6:1611407..1611430 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.756C>G (p.Ala252=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002909158]	Chr6:1611201 [GRCh38] Chr6:1611436 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.995T>C (p.Leu332Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002909918]	Chr6:1611440 [GRCh38] Chr6:1611675 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1091C>T (p.Pro364Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002952445]\|Axenfeld-Rieger syndrome type 3 [RCV005034498]	Chr6:1611536 [GRCh38] Chr6:1611771 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.173del (p.Gly58fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002870799]	Chr6:1610616 [GRCh38] Chr6:1610851 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1518G>A (p.Ser506=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002913872]	Chr6:1611963 [GRCh38] Chr6:1612198 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.793_1196dup (p.Ala399_Met400insAlaAlaCysProAlaGlyAlaAlaProArgAlaAlaCysArgArgArgGlyArgSerAlaTrpThrValArgIleProArgArgArgArgProArgProProProArgArgArgThrIleAlaArgAlaSerAlaTrpThrThrSerTer)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002867568]	Chr6:1611234..1611235 [GRCh38] Chr6:1611469..1611470 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1059C>T (p.Tyr353=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002622693]	Chr6:1611504 [GRCh38] Chr6:1611739 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.115G>T (p.Ala39Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002909706]\|Axenfeld-Rieger syndrome type 3 [RCV005034477]\|Inborn genetic diseases [RCV003250614]	Chr6:1610560 [GRCh38] Chr6:1610795 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.505C>G (p.Arg169Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002796644]	Chr6:1610950 [GRCh38] Chr6:1611185 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.863C>T (p.Ala288Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005036585]\|Inborn genetic diseases [RCV002911418]	Chr6:1611308 [GRCh38] Chr6:1611543 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1159G>C (p.Ala387Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003002467]	Chr6:1611604 [GRCh38] Chr6:1611839 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.536C>T (p.Ala179Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002624996]	Chr6:1610981 [GRCh38] Chr6:1611216 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.975C>T (p.Ala325=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002700687]	Chr6:1611420 [GRCh38] Chr6:1611655 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.36C>G (p.Ser12=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002853190]	Chr6:1610481 [GRCh38] Chr6:1610716 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1020G>A (p.Ser340=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003007340]	Chr6:1611465 [GRCh38] Chr6:1611700 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1612T>C (p.Ser538Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003059537]	Chr6:1612057 [GRCh38] Chr6:1612292 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.736_759del (p.Leu246_Ala253del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV003085645]\|Axenfeld-Rieger syndrome type 3 [RCV005034645]	Chr6:1611181..1611204 [GRCh38] Chr6:1611416..1611439 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1137C>T (p.Gly379=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002644021]	Chr6:1611582 [GRCh38] Chr6:1611817 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.993C>T (p.Gly331=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002982775]	Chr6:1611438 [GRCh38] Chr6:1611673 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002929138]	Chr6:1610486 [GRCh38] Chr6:1610721 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.372C>T (p.Asn124=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002928176]	Chr6:1610817 [GRCh38] Chr6:1611052 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.639G>T (p.Ala213=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002624681]\|FOXC1-related disorder [RCV003946328]	Chr6:1611084 [GRCh38] Chr6:1611319 [GRCh37] Chr6:6p25.3	benign\|likely benign
NM_001453.3(FOXC1):c.628G>A (p.Asp210Asn)	single nucleotide variant	Inborn genetic diseases [RCV002804329]	Chr6:1611073 [GRCh38] Chr6:1611308 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.725C>T (p.Pro242Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003007178]\|Axenfeld-Rieger syndrome type 3 [RCV005034560]	Chr6:1611170 [GRCh38] Chr6:1611405 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.895G>A (p.Ala299Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003006333]	Chr6:1611340 [GRCh38] Chr6:1611575 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.727G>T (p.Ala243Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002623693]	Chr6:1611172 [GRCh38] Chr6:1611407 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.807C>T (p.Ser269=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003085118]	Chr6:1611252 [GRCh38] Chr6:1611487 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.579G>T (p.Glu193Asp)	single nucleotide variant	Inborn genetic diseases [RCV002955052]	Chr6:1611024 [GRCh38] Chr6:1611259 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.27C>T (p.Ser9=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002594824]	Chr6:1610472 [GRCh38] Chr6:1610707 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.915_918dup (p.Gly307fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002828308]	Chr6:1611357..1611358 [GRCh38] Chr6:1611592..1611593 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.785G>A (p.Ser262Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002623823]	Chr6:1611230 [GRCh38] Chr6:1611465 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.961C>T (p.Pro321Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002918711]\|Axenfeld-Rieger syndrome type 3 [RCV005034470]\|Inborn genetic diseases [RCV002931834]	Chr6:1611406 [GRCh38] Chr6:1611641 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1292A>G (p.Tyr431Cys)	single nucleotide variant	Inborn genetic diseases [RCV002915117]	Chr6:1611737 [GRCh38] Chr6:1611972 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002891153]	Chr6:1610868 [GRCh38] Chr6:1611103 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.58G>A (p.Gly20Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002595243]	Chr6:1610503 [GRCh38] Chr6:1610738 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.223G>A (p.Asp75Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002700318]	Chr6:1610668 [GRCh38] Chr6:1610903 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1329C>T (p.Ser443=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002918543]\|FOXC1-related disorder [RCV004753589]	Chr6:1611774 [GRCh38] Chr6:1612009 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1025C>G (p.Ala342Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002644216]\|not provided [RCV003434592]	Chr6:1611470 [GRCh38] Chr6:1611705 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.1027G>A (p.Gly343Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002630917]	Chr6:1611472 [GRCh38] Chr6:1611707 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.750C>G (p.Ser250Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002715004]	Chr6:1611195 [GRCh38] Chr6:1611430 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.608C>T (p.Pro203Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002631252]	Chr6:1611053 [GRCh38] Chr6:1611288 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.552G>A (p.Glu184=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003091988]	Chr6:1610997 [GRCh38] Chr6:1611232 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1174A>G (p.Thr392Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002650480]	Chr6:1611619 [GRCh38] Chr6:1611854 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.387C>T (p.Asn129=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002922052]	Chr6:1610832 [GRCh38] Chr6:1611067 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.816C>A (p.Ser272Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002647332]	Chr6:1611261 [GRCh38] Chr6:1611496 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.778C>G (p.Pro260Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002629428]	Chr6:1611223 [GRCh38] Chr6:1611458 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1454T>C (p.Leu485Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002599154]\|Axenfeld-Rieger syndrome type 3 [RCV005034734]	Chr6:1611899 [GRCh38] Chr6:1612134 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1464GGC[8] (p.Ala495_Gly496insAlaAla)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV002922200]	Chr6:1611906..1611907 [GRCh38] Chr6:1612141..1612142 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1231_1254del (p.His411_Gly418del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV002632099]	Chr6:1611669..1611692 [GRCh38] Chr6:1611904..1611927 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1585T>C (p.Cys529Arg)	single nucleotide variant	Inborn genetic diseases [RCV002792701]	Chr6:1612030 [GRCh38] Chr6:1612265 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.134G>A (p.Ser45Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002746765]	Chr6:1610579 [GRCh38] Chr6:1610814 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1111_1119dup (p.Ser373_Ser374insAlaGlySer)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002811989]	Chr6:1611551..1611552 [GRCh38] Chr6:1611786..1611787 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003064960]	Chr6:1610742 [GRCh38] Chr6:1610977 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.264C>T (p.Thr88=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002628282]	Chr6:1610709 [GRCh38] Chr6:1610944 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002810606]\|not provided [RCV004725389]	Chr6:1610653 [GRCh38] Chr6:1610888 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.817C>T (p.Pro273Ser)	single nucleotide variant	Inborn genetic diseases [RCV002939744]	Chr6:1611262 [GRCh38] Chr6:1611497 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1148C>G (p.Ala383Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002937962]	Chr6:1611593 [GRCh38] Chr6:1611828 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.184C>T (p.Arg62Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002649467]	Chr6:1610629 [GRCh38] Chr6:1610864 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.185G>A (p.Arg62His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002600043]	Chr6:1610630 [GRCh38] Chr6:1610865 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1562C>T (p.Ser521Phe)	single nucleotide variant	Inborn genetic diseases [RCV002813048]	Chr6:1612007 [GRCh38] Chr6:1612242 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1631G>A (p.Gly544Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003049146]	Chr6:1612076 [GRCh38] Chr6:1612311 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.623A>G (p.Gln208Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003009186]\|Inborn genetic diseases [RCV003358043]	Chr6:1611068 [GRCh38] Chr6:1611303 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.564G>A (p.Arg188=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003049229]	Chr6:1611009 [GRCh38] Chr6:1611244 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.976G>T (p.Ala326Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003065730]	Chr6:1611421 [GRCh38] Chr6:1611656 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1051G>A (p.Gly351Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002746228]	Chr6:1611496 [GRCh38] Chr6:1611731 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.543G>A (p.Lys181=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002650874]	Chr6:1610988 [GRCh38] Chr6:1611223 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1145G>A (p.Gly382Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002746722]	Chr6:1611590 [GRCh38] Chr6:1611825 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.523AAG[2] (p.Lys177del)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV002938708]\|Axenfeld-Rieger syndrome type 3 [RCV005034504]	Chr6:1610968..1610970 [GRCh38] Chr6:1611203..1611205 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1245G>C (p.Ala415=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003091521]	Chr6:1611690 [GRCh38] Chr6:1611925 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1262G>A (p.Gly421Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003087854]\|Axenfeld-Rieger syndrome type 3 [RCV005034671]	Chr6:1611707 [GRCh38] Chr6:1611942 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.104_105insT (p.Gly36fs)	insertion	Axenfeld-Rieger syndrome type 3 [RCV002835257]	Chr6:1610549..1610550 [GRCh38] Chr6:1610784..1610785 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.735_758dup (p.Ala253_Val254insLeuGlySerGlySerAlaAlaAla)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002628592]	Chr6:1611171..1611172 [GRCh38] Chr6:1611406..1611407 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1235T>G (p.Leu412Trp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002943233]\|Axenfeld-Rieger syndrome type 3 [RCV005034513]	Chr6:1611680 [GRCh38] Chr6:1611915 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.18C>T (p.Ser6=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003070222]	Chr6:1610463 [GRCh38] Chr6:1610698 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1155_1163del (p.386GAG[1])	deletion	Axenfeld-Rieger syndrome type 3 [RCV003068107]\|Axenfeld-Rieger syndrome type 3 [RCV005034626]	Chr6:1611594..1611602 [GRCh38] Chr6:1611829..1611837 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.556A>G (p.Lys186Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002603119]	Chr6:1611001 [GRCh38] Chr6:1611236 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.309C>T (p.Gly103=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002606488]	Chr6:1610754 [GRCh38] Chr6:1610989 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.994del (p.Leu332fs)	deletion	not provided [RCV003129292]	Chr6:1611438 [GRCh38] Chr6:1611673 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.873G>A (p.Ala291=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002721655]	Chr6:1611318 [GRCh38] Chr6:1611553 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1482_1484dup (p.Ala495_Gly496insAla)	duplication	Axenfeld-Rieger syndrome type 3 [RCV002603203]\|Axenfeld-Rieger syndrome type 3 [RCV005034740]	Chr6:1611924..1611925 [GRCh38] Chr6:1612159..1612160 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.342C>T (p.Phe114=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002726123]	Chr6:1610787 [GRCh38] Chr6:1611022 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.934A>G (p.Asn312Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003068259]	Chr6:1611379 [GRCh38] Chr6:1611614 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1458G>C (p.Ala486=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003069966]	Chr6:1611903 [GRCh38] Chr6:1612138 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.782A>G (p.Asp261Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003072418]	Chr6:1611227 [GRCh38] Chr6:1611462 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1399C>G (p.Gln467Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003070136]	Chr6:1611844 [GRCh38] Chr6:1612079 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.105C>T (p.Gly35=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002653716]\|FOXC1-related disorder [RCV003943474]	Chr6:1610550 [GRCh38] Chr6:1610785 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1175C>T (p.Thr392Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV002587900]	Chr6:1611620 [GRCh38] Chr6:1611855 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1584C>G (p.Ser528Arg)	single nucleotide variant	Inborn genetic diseases [RCV003256395]	Chr6:1612029 [GRCh38] Chr6:1612264 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1516T>A (p.Ser506Thr)	single nucleotide variant	Inborn genetic diseases [RCV003304179]	Chr6:1611961 [GRCh38] Chr6:1612196 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.200A>G (p.Tyr67Cys)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV003324709]	Chr6:1610645 [GRCh38] Chr6:1610880 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1464GGC[9] (p.Ala495_Gly496insAlaAlaAla)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV005103921]\|not provided [RCV003329842]	Chr6:1611906..1611907 [GRCh38] Chr6:1612141..1612142 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.406_418del (p.Phe136fs)	deletion	not provided [RCV003327164]	Chr6:1610847..1610859 [GRCh38] Chr6:1611082..1611094 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.98C>T (p.Ala33Val)	single nucleotide variant	Inborn genetic diseases [RCV003378674]	Chr6:1610543 [GRCh38] Chr6:1610778 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.90del (p.Ala31fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV003332930]	Chr6:1610534 [GRCh38] Chr6:1610769 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1436G>A (p.Gly479Asp)	single nucleotide variant	not provided [RCV003457454]	Chr6:1611881 [GRCh38] Chr6:1612116 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3(chr6:156975-2072578)x1	copy number loss	not provided [RCV003485500]	Chr6:156975..2072578 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3(chr6:647204-1716710)x1	copy number loss	not provided [RCV003485501]	Chr6:647204..1716710 [GRCh37] Chr6:6p25.3	pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	copy number gain	not provided [RCV003484635]	Chr6:156975..15478095 [GRCh37] Chr6:6p25.3-22.3	pathogenic
GRCh37/hg19 6p25.3(chr6:1286450-1645873)x3	copy number gain	not provided [RCV003484636]	Chr6:1286450..1645873 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.55C>T (p.Leu19Phe)	single nucleotide variant	not provided [RCV003481782]	Chr6:1610500 [GRCh38] Chr6:1610735 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.453C>T (p.Tyr151=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003511393]	Chr6:1610898 [GRCh38] Chr6:1611133 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1313G>T (p.Ser438Ile)	single nucleotide variant	FOXC1-related disorder [RCV003399949]	Chr6:1611758 [GRCh38] Chr6:1611993 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003511452]	Chr6:1610938 [GRCh38] Chr6:1611173 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.404G>A (p.Cys135Tyr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005036769]\|FOXC1-related disorder [RCV003399860]	Chr6:1610849 [GRCh38] Chr6:1611084 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1257G>C (p.Ala419=)	single nucleotide variant	not provided [RCV003430070]	Chr6:1611702 [GRCh38] Chr6:1611937 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1309A>G (p.Thr437Ala)	single nucleotide variant	FOXC1-related disorder [RCV003417002]	Chr6:1611754 [GRCh38] Chr6:1611989 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.104_105delinsT (p.Gly35fs)	indel	FOXC1-related disorder [RCV003419013]	Chr6:1610549..1610550 [GRCh38] Chr6:1610784..1610785 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1244C>T (p.Ala415Val)	single nucleotide variant	FOXC1-related disorder [RCV003417121]	Chr6:1611689 [GRCh38] Chr6:1611924 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.503T>C (p.Leu168Pro)	single nucleotide variant	FOXC1-related disorder [RCV003400062]	Chr6:1610948 [GRCh38] Chr6:1611183 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1121C>T (p.Ser374Leu)	single nucleotide variant	not provided [RCV003430069]	Chr6:1611566 [GRCh38] Chr6:1611801 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1092dup (p.Cys365fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV003389576]	Chr6:1611532..1611533 [GRCh38] Chr6:1611767..1611768 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.661G>C (p.Val221Leu)	single nucleotide variant	FOXC1-related disorder [RCV003393237]	Chr6:1611106 [GRCh38] Chr6:1611341 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1483G>A (p.Ala495Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510155]\|Inborn genetic diseases [RCV005335822]	Chr6:1611928 [GRCh38] Chr6:1612163 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.642C>A (p.Pro214=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003511263]	Chr6:1611087 [GRCh38] Chr6:1611322 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.936C>T (p.Asn312=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003511363]	Chr6:1611381 [GRCh38] Chr6:1611616 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.249C>A (p.Tyr83Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510480]	Chr6:1610694 [GRCh38] Chr6:1610929 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.756C>T (p.Ala252=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510773]	Chr6:1611201 [GRCh38] Chr6:1611436 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.284C>T (p.Pro95Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510594]	Chr6:1610729 [GRCh38] Chr6:1610964 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.182C>T (p.Ala61Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003511264]\|not provided [RCV004598269]	Chr6:1610627 [GRCh38] Chr6:1610862 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003509832]\|Axenfeld-Rieger syndrome type 3 [RCV005036834]\|not provided [RCV003487839]	Chr6:1611452 [GRCh38] Chr6:1611687 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.730G>A (p.Ala244Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510142]	Chr6:1611175 [GRCh38] Chr6:1611410 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003878120]	Chr6:1611213 [GRCh38] Chr6:1611448 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.652C>T (p.Pro218Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510430]\|Axenfeld-Rieger syndrome type 3 [RCV005036908]	Chr6:1611097 [GRCh38] Chr6:1611332 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003878877]	Chr6:1611313 [GRCh38] Chr6:1611548 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1394C>G (p.Ala465Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003511017]	Chr6:1611839 [GRCh38] Chr6:1612074 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1140dup (p.Ala381fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV003510630]	Chr6:1611584..1611585 [GRCh38] Chr6:1611819..1611820 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.108C>G (p.Gly36=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510811]	Chr6:1610553 [GRCh38] Chr6:1610788 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1207T>C (p.Tyr403His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510812]\|not specified [RCV003994568]	Chr6:1611652 [GRCh38] Chr6:1611887 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.441C>G (p.Gly147=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510874]	Chr6:1610886 [GRCh38] Chr6:1611121 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003509111]	Chr6:1610848 [GRCh38] Chr6:1611083 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1076C>T (p.Ser359Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510917]	Chr6:1611521 [GRCh38] Chr6:1611756 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1573G>A (p.Gly525Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003878658]	Chr6:1612018 [GRCh38] Chr6:1612253 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.325A>G (p.Met109Val)	single nucleotide variant	Anterior segment dysgenesis 3 [RCV005356481]\|Axenfeld-Rieger syndrome type 3 [RCV003510346]\|Axenfeld-Rieger syndrome type 3 [RCV005036907]	Chr6:1610770 [GRCh38] Chr6:1611005 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.955G>A (p.Gly319Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003511046]	Chr6:1611400 [GRCh38] Chr6:1611635 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1137C>G (p.Gly379=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510629]	Chr6:1611582 [GRCh38] Chr6:1611817 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.562A>G (p.Arg188Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510757]	Chr6:1611007 [GRCh38] Chr6:1611242 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.796dup (p.Ser266fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV003510032]	Chr6:1611240..1611241 [GRCh38] Chr6:1611475..1611476 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.104del (p.Gly35fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV003510026]	Chr6:1610545 [GRCh38] Chr6:1610780 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1179C>G (p.Tyr393Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003510778]	Chr6:1611624 [GRCh38] Chr6:1611859 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1265C>T (p.Ser422Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003850823]	Chr6:1611710 [GRCh38] Chr6:1611945 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620627]	Chr6:1611626 [GRCh38] Chr6:1611861 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1492C>T (p.Pro498Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620661]	Chr6:1611937 [GRCh38] Chr6:1612172 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.614C>T (p.Pro205Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003850569]	Chr6:1611059 [GRCh38] Chr6:1611294 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.281C>T (p.Ala94Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620678]	Chr6:1610726 [GRCh38] Chr6:1610961 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1253G>C (p.Gly418Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620399]	Chr6:1611698 [GRCh38] Chr6:1611933 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.129C>T (p.Pro43=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620864]	Chr6:1610574 [GRCh38] Chr6:1610809 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620881]	Chr6:1610885 [GRCh38] Chr6:1611120 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003619579]\|Axenfeld-Rieger syndrome type 3 [RCV005036983]	Chr6:1611407 [GRCh38] Chr6:1611642 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1509C>T (p.Asn503=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620485]	Chr6:1611954 [GRCh38] Chr6:1612189 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.39G>A (p.Leu13=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620614]	Chr6:1610484 [GRCh38] Chr6:1610719 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003814197]	Chr6:1610993 [GRCh38] Chr6:1611228 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620160]\|Axenfeld-Rieger syndrome type 3 [RCV005036995]	Chr6:1610620 [GRCh38] Chr6:1610855 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1300C>T (p.Pro434Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003619492]	Chr6:1611745 [GRCh38] Chr6:1611980 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1029G>A (p.Gly343=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003619359]	Chr6:1611474 [GRCh38] Chr6:1611709 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.159C>G (p.Ala53=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003856294]	Chr6:1610604 [GRCh38] Chr6:1610839 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.192C>T (p.Tyr64=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003619864]	Chr6:1610637 [GRCh38] Chr6:1610872 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1040C>T (p.Pro347Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003850218]	Chr6:1611485 [GRCh38] Chr6:1611720 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003619984]	Chr6:1611523 [GRCh38] Chr6:1611758 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1038C>T (p.Pro346=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003619940]	Chr6:1611483 [GRCh38] Chr6:1611718 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1290C>T (p.Asp430=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620042]	Chr6:1611735 [GRCh38] Chr6:1611970 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1337_1339del (p.His446_Gly447delinsArg)	deletion	Axenfeld-Rieger syndrome type 3 [RCV003620384]	Chr6:1611782..1611784 [GRCh38] Chr6:1612017..1612019 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.389_392del (p.Leu130fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV003621451]	Chr6:1610833..1610836 [GRCh38] Chr6:1611068..1611071 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.155A>G (p.His52Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003858513]	Chr6:1610600 [GRCh38] Chr6:1610835 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.888G>T (p.Ala296=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003621333]	Chr6:1611333 [GRCh38] Chr6:1611568 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1149_1158dup (p.Ala387fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV003621350]	Chr6:1611587..1611588 [GRCh38] Chr6:1611822..1611823 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.587C>T (p.Pro196Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003852970]	Chr6:1611032 [GRCh38] Chr6:1611267 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1390G>A (p.Ala464Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003861065]	Chr6:1611835 [GRCh38] Chr6:1612070 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003863188]	Chr6:1611263 [GRCh38] Chr6:1611498 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1142_1156del (p.Ala381_Gly385del)	deletion	FOXC1-related disorder [RCV003939315]	Chr6:1611586..1611600 [GRCh38] Chr6:1611821..1611835 [GRCh37] Chr6:6p25.3	likely benign
GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	copy number gain	not specified [RCV003986657]	Chr6:156974..3175378 [GRCh37] Chr6:6p25.3-25.2	pathogenic
NM_001453.3(FOXC1):c.246C>T (p.Ser82=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003869248]	Chr6:1610691 [GRCh38] Chr6:1610926 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1304C>G (p.Pro435Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003868025]\|Inborn genetic diseases [RCV004369531]	Chr6:1611749 [GRCh38] Chr6:1611984 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1228G>T (p.Gly410Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003872274]\|Axenfeld-Rieger syndrome type 3 [RCV005038619]	Chr6:1611673 [GRCh38] Chr6:1611908 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3(chr6:1593074-1660677)x3	copy number gain	not specified [RCV003986607]	Chr6:1593074..1660677 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3(chr6:1527438-2021057)x3	copy number gain	not specified [RCV003986608]	Chr6:1527438..2021057 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3-25.2(chr6:1479303-2693757)x3	copy number gain	not specified [RCV003986650]	Chr6:1479303..2693757 [GRCh37] Chr6:6p25.3-25.2	uncertain significance
NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003870423]	Chr6:1611467 [GRCh38] Chr6:1611702 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003844390]	Chr6:1611882 [GRCh38] Chr6:1612117 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)	insertion	Axenfeld-Rieger syndrome type 3 [RCV003621187]	Chr6:1610931..1610932 [GRCh38] Chr6:1611166..1611167 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1326G>A (p.Ser442=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003621331]	Chr6:1611771 [GRCh38] Chr6:1612006 [GRCh37] Chr6:6p25.3	likely benign
GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	copy number loss	not specified [RCV003986661]	Chr6:156974..4338899 [GRCh37] Chr6:6p25.3-25.1	pathogenic
GRCh37/hg19 6p25.3(chr6:1562445-1646030)x1	copy number loss	not specified [RCV003986635]	Chr6:1562445..1646030 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1380C>T (p.Gly460=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003823426]	Chr6:1611825 [GRCh38] Chr6:1612060 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1345G>A (p.Gly449Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003621014]	Chr6:1611790 [GRCh38] Chr6:1612025 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1157dup (p.Ala387fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV003621066]	Chr6:1611596..1611597 [GRCh38] Chr6:1611831..1611832 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003840716]	Chr6:1610494 [GRCh38] Chr6:1610729 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003621422]	Chr6:1610756 [GRCh38] Chr6:1610991 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.447C>T (p.Gly149=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003845274]	Chr6:1610892 [GRCh38] Chr6:1611127 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1495G>A (p.Gly499Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005038628]\|FOXC1-related disorder [RCV003899519]	Chr6:1611940 [GRCh38] Chr6:1612175 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.-437C>G	single nucleotide variant	FOXC1-related disorder [RCV003896326]	Chr6:1610009 [GRCh38] Chr6:1610244 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1599C>T (p.Phe533=)	single nucleotide variant	FOXC1-related disorder [RCV003937072]	Chr6:1612044 [GRCh38] Chr6:1612279 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.892_898del (p.Ser298fs)	deletion	FOXC1-related disorder [RCV003924310]	Chr6:1611332..1611338 [GRCh38] Chr6:1611567..1611573 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.-435C>G	single nucleotide variant	FOXC1-related disorder [RCV003896819]	Chr6:1610011 [GRCh38] Chr6:1610246 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.-433C>G	single nucleotide variant	FOXC1-related disorder [RCV003899581]	Chr6:1610013 [GRCh38] Chr6:1610248 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1140C>G (p.Gly380=)	single nucleotide variant	FOXC1-related disorder [RCV003893798]	Chr6:1611585 [GRCh38] Chr6:1611820 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1095C>T (p.Cys365=)	single nucleotide variant	not provided [RCV003884063]	Chr6:1611540 [GRCh38] Chr6:1611775 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.861T>C (p.Gly287=)	single nucleotide variant	FOXC1-related disorder [RCV003942080]	Chr6:1611306 [GRCh38] Chr6:1611541 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.125C>T (p.Ala42Val)	single nucleotide variant	Inborn genetic diseases [RCV004392139]	Chr6:1610570 [GRCh38] Chr6:1610805 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1188C>A (p.Asn396Lys)	single nucleotide variant	Inborn genetic diseases [RCV004392138]	Chr6:1611633 [GRCh38] Chr6:1611868 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.94G>A (p.Ala32Thr)	single nucleotide variant	Inborn genetic diseases [RCV004392143]	Chr6:1610539 [GRCh38] Chr6:1610774 [GRCh37] Chr6:6p25.3	uncertain significance
NC_000006.11:g.(?_1606319)_(1611558_?)del	deletion	Axenfeld-Rieger syndrome type 3 [RCV004578663]	Chr6:1606319..1611558 [GRCh37] Chr6:6p25.3	pathogenic
NC_000006.11:g.(?_1610661)_(1611805_?)del	deletion	Axenfeld-Rieger syndrome type 3 [RCV004578664]	Chr6:1610661..1611805 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1361G>C (p.Gly454Ala)	single nucleotide variant	not provided [RCV004697388]	Chr6:1611806 [GRCh38] Chr6:1612041 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1355G>A (p.Gly452Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005059827]\|FOXC1-related disorder [RCV004753971]	Chr6:1611800 [GRCh38] Chr6:1612035 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.379C>A (p.Arg127Ser)	single nucleotide variant	FOXC1-related disorder [RCV004731809]	Chr6:1610824 [GRCh38] Chr6:1611059 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1112C>T (p.Ala371Val)	single nucleotide variant	FOXC1-related disorder [RCV004732189]	Chr6:1611557 [GRCh38] Chr6:1611792 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.338C>T (p.Pro113Leu)	single nucleotide variant	not provided [RCV004727700]	Chr6:1610783 [GRCh38] Chr6:1611018 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.284C>G (p.Pro95Arg)	single nucleotide variant	FOXC1-related disorder [RCV004731458]	Chr6:1610729 [GRCh38] Chr6:1610964 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.702C>G (p.Pro234=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005103862]\|FOXC1-related disorder [RCV004752580]	Chr6:1611147 [GRCh38] Chr6:1611382 [GRCh37] Chr6:6p25.3	likely benign\|uncertain significance
NM_001453.3(FOXC1):c.883C>T (p.Pro295Ser)	single nucleotide variant	not provided [RCV004763995]		uncertain significance
NM_001453.3(FOXC1):c.1048C>T (p.Leu350Phe)	single nucleotide variant	not provided [RCV004763996]		uncertain significance
NM_001453.3(FOXC1):c.240_284del (p.Tyr81_Pro95del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV004764580]	Chr6:1610683..1610727 [GRCh38] Chr6:1610918..1610962 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.446G>A (p.Gly149Asp)	single nucleotide variant	not provided [RCV004719545]	Chr6:1610891 [GRCh38] Chr6:1611126 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.788G>T (p.Ser263Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045610]	Chr6:1611233 [GRCh38] Chr6:1611468 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1142delinsGCGT (p.Ala381delinsGlyVal)	indel	Axenfeld-Rieger syndrome type 3 [RCV005045623]	Chr6:1611587 [GRCh38] Chr6:1611822 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1156G>A (p.Gly386Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045624]	Chr6:1611601 [GRCh38] Chr6:1611836 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1312A>T (p.Ser438Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045626]	Chr6:1611757 [GRCh38] Chr6:1611992 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3-25.2(chr6:156975-2836366)x3	copy number gain	not provided [RCV004819279]	Chr6:156975..2836366 [GRCh37] Chr6:6p25.3-25.2	likely pathogenic
NM_001453.3(FOXC1):c.373A>T (p.Ser125Cys)	single nucleotide variant	Inborn genetic diseases [RCV004980012]	Chr6:1610818 [GRCh38] Chr6:1611053 [GRCh37] Chr6:6p25.3	uncertain significance
GRCh37/hg19 6p25.3-25.1(chr6:156975-5885318)x1	copy number loss	not provided [RCV004819346]	Chr6:156975..5885318 [GRCh37] Chr6:6p25.3-25.1	pathogenic
NM_001453.3(FOXC1):c.1333A>G (p.Ser445Gly)	single nucleotide variant	Inborn genetic diseases [RCV004980015]	Chr6:1611778 [GRCh38] Chr6:1612013 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1492C>G (p.Pro498Ala)	single nucleotide variant	Inborn genetic diseases [RCV004980019]	Chr6:1611937 [GRCh38] Chr6:1612172 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1081T>C (p.Tyr361His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045620]	Chr6:1611526 [GRCh38] Chr6:1611761 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.315C>G (p.Tyr105Ter)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003389575]	Chr6:1610760 [GRCh38] Chr6:1610995 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV003620593]	Chr6:1610479 [GRCh38] Chr6:1610714 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.532G>A (p.Asp178Asn)	single nucleotide variant	Inborn genetic diseases [RCV004392140]	Chr6:1610977 [GRCh38] Chr6:1611212 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.942G>A (p.Met314Ile)	single nucleotide variant	Inborn genetic diseases [RCV004392142]	Chr6:1611387 [GRCh38] Chr6:1611622 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.330C>G (p.Asp110Glu)	single nucleotide variant	Inborn genetic diseases [RCV004626126]	Chr6:1610775 [GRCh38] Chr6:1611010 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.617C>T (p.Pro206Leu)	single nucleotide variant	Inborn genetic diseases [RCV004626127]	Chr6:1611062 [GRCh38] Chr6:1611297 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.209A>C (p.Gln70Pro)	single nucleotide variant	Inborn genetic diseases [RCV004626128]	Chr6:1610654 [GRCh38] Chr6:1610889 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.173G>C (p.Gly58Ala)	single nucleotide variant	Inborn genetic diseases [RCV004626129]	Chr6:1610618 [GRCh38] Chr6:1610853 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.35C>T (p.Ser12Phe)	single nucleotide variant	Inborn genetic diseases [RCV004626130]	Chr6:1610480 [GRCh38] Chr6:1610715 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.83C>T (p.Ala28Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045603]	Chr6:1610528 [GRCh38] Chr6:1610763 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.691G>A (p.Gly231Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045607]\|Axenfeld-Rieger syndrome type 3 [RCV005105268]	Chr6:1611136 [GRCh38] Chr6:1611371 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.872C>T (p.Ala291Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045615]	Chr6:1611317 [GRCh38] Chr6:1611552 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1022G>T (p.Arg341Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045617]	Chr6:1611467 [GRCh38] Chr6:1611702 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1127G>A (p.Gly376Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045622]	Chr6:1611572 [GRCh38] Chr6:1611807 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1165G>T (p.Gly389Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045625]	Chr6:1611610 [GRCh38] Chr6:1611845 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1433C>A (p.Ala478Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045628]	Chr6:1611878 [GRCh38] Chr6:1612113 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1438G>A (p.Gly480Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045629]	Chr6:1611883 [GRCh38] Chr6:1612118 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1490A>T (p.Tyr497Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045630]	Chr6:1611935 [GRCh38] Chr6:1612170 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1088C>T (p.Ser363Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005045621]	Chr6:1611533 [GRCh38] Chr6:1611768 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1338CGG[12] (p.Gly456_Gln457insGlyGlyGlyGly)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV005045627]	Chr6:1611782..1611783 [GRCh38] Chr6:1612017..1612018 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1202G>A (p.Ser401Asn)	single nucleotide variant	Inborn genetic diseases [RCV004980016]	Chr6:1611647 [GRCh38] Chr6:1611882 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1441G>A (p.Asp481Asn)	single nucleotide variant	Inborn genetic diseases [RCV004980018]	Chr6:1611886 [GRCh38] Chr6:1612121 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.374G>C (p.Ser125Thr)	single nucleotide variant	Inborn genetic diseases [RCV004980013]	Chr6:1610819 [GRCh38] Chr6:1611054 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1123G>T (p.Gly375Cys)	single nucleotide variant	Inborn genetic diseases [RCV004980020]	Chr6:1611568 [GRCh38] Chr6:1611803 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.104G>A (p.Gly35Asp)	single nucleotide variant	Inborn genetic diseases [RCV004980022]	Chr6:1610549 [GRCh38] Chr6:1610784 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.120G>T (p.Met40Ile)	single nucleotide variant	Inborn genetic diseases [RCV004980011]	Chr6:1610565 [GRCh38] Chr6:1610800 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.631G>A (p.Gly211Ser)	single nucleotide variant	Inborn genetic diseases [RCV004980017]	Chr6:1611076 [GRCh38] Chr6:1611311 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.769A>G (p.Ile257Val)	single nucleotide variant	Inborn genetic diseases [RCV004980021]	Chr6:1611214 [GRCh38] Chr6:1611449 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.598_611dup (p.Pro205fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV005124131]	Chr6:1611038..1611039 [GRCh38] Chr6:1611273..1611274 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.484T>G (p.Phe162Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005141289]	Chr6:1610929 [GRCh38] Chr6:1611164 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.553G>A (p.Glu185Lys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005066503]	Chr6:1610998 [GRCh38] Chr6:1611233 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.17C>G (p.Ser6Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005141431]	Chr6:1610462 [GRCh38] Chr6:1610697 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.384C>G (p.His128Gln)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005141495]	Chr6:1610829 [GRCh38] Chr6:1611064 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.1448G>C (p.Gly483Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005135839]	Chr6:1611893 [GRCh38] Chr6:1612128 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1016_1040del (p.Ser339fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV005129791]	Chr6:1611461..1611485 [GRCh38] Chr6:1611696..1611720 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.1456G>C (p.Ala486Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005107291]	Chr6:1611901 [GRCh38] Chr6:1612136 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.587dup (p.Pro197fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV005208297]	Chr6:1611027..1611028 [GRCh38] Chr6:1611262..1611263 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.903G>A (p.Pro301=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005115858]	Chr6:1611348 [GRCh38] Chr6:1611583 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.452A>T (p.Tyr151Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039513]	Chr6:1610897 [GRCh38] Chr6:1611132 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1455G>C (p.Leu485Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005117534]	Chr6:1611900 [GRCh38] Chr6:1612135 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.45G>T (p.Val15=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005108257]	Chr6:1610490 [GRCh38] Chr6:1610725 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1114G>T (p.Gly372Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039584]	Chr6:1611559 [GRCh38] Chr6:1611794 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.793A>G (p.Ser265Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005038901]\|Inborn genetic diseases [RCV004980014]	Chr6:1611238 [GRCh38] Chr6:1611473 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.196C>A (p.Pro66Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039509]	Chr6:1610641 [GRCh38] Chr6:1610876 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.260T>C (p.Ile87Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039510]	Chr6:1610705 [GRCh38] Chr6:1610940 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.873GCC[5] (p.Pro295_Ala296insPro)	microsatellite	Axenfeld-Rieger syndrome type 3 [RCV005039569]	Chr6:1611316..1611317 [GRCh38] Chr6:1611551..1611552 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.919G>A (p.Gly307Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039571]	Chr6:1611364 [GRCh38] Chr6:1611599 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.956G>T (p.Gly319Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039580]\|Inborn genetic diseases [RCV005336051]	Chr6:1611401 [GRCh38] Chr6:1611636 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1064C>A (p.Pro355His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039583]	Chr6:1611509 [GRCh38] Chr6:1611744 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1508A>G (p.Asn503Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039598]	Chr6:1611953 [GRCh38] Chr6:1612188 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1628C>A (p.Ser543Tyr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039599]	Chr6:1612073 [GRCh38] Chr6:1612308 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.599dup (p.Pro201fs)	duplication	Axenfeld-Rieger syndrome type 3 [RCV005130302]	Chr6:1611043..1611044 [GRCh38] Chr6:1611278..1611279 [GRCh37] Chr6:6p25.3	pathogenic
NM_001453.3(FOXC1):c.935A>T (p.Asn312Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005125509]	Chr6:1611380 [GRCh38] Chr6:1611615 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.939C>G (p.Ile313Met)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005125510]	Chr6:1611384 [GRCh38] Chr6:1611619 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.288C>A (p.Asp96Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039511]	Chr6:1610733 [GRCh38] Chr6:1610968 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.299C>A (p.Thr100Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039512]	Chr6:1610744 [GRCh38] Chr6:1610979 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.538G>A (p.Val180Met)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039515]	Chr6:1610983 [GRCh38] Chr6:1611218 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1637T>C (p.Phe546Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005119230]	Chr6:1612082 [GRCh38] Chr6:1612317 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.305A>G (p.Asn102Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005060881]	Chr6:1610750 [GRCh38] Chr6:1610985 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1359C>G (p.Gly453=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005088225]	Chr6:1611804 [GRCh38] Chr6:1612039 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1118G>A (p.Ser373Asn)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039585]	Chr6:1611563 [GRCh38] Chr6:1611798 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1120_1158del (p.Ser374_Gly386del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV005039586]	Chr6:1611563..1611601 [GRCh38] Chr6:1611798..1611836 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1135G>C (p.Gly379Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039588]	Chr6:1611580 [GRCh38] Chr6:1611815 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1250G>A (p.Gly417Glu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039589]	Chr6:1611695 [GRCh38] Chr6:1611930 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1310C>T (p.Thr437Ile)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039590]\|Axenfeld-Rieger syndrome type 3 [RCV005105272]	Chr6:1611755 [GRCh38] Chr6:1611990 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.736_756dup (p.Ala252_Ala253insLeuGlySerGlySerAlaAla)	duplication	Axenfeld-Rieger syndrome type 3 [RCV005039554]	Chr6:1611173..1611174 [GRCh38] Chr6:1611408..1611409 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1444C>A (p.Leu482Met)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039596]	Chr6:1611889 [GRCh38] Chr6:1612124 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.758C>G (p.Ala253Gly)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039557]	Chr6:1611203 [GRCh38] Chr6:1611438 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.832C>T (p.Pro278Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039558]	Chr6:1611277 [GRCh38] Chr6:1611512 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.193G>C (p.Gly65Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039508]	Chr6:1610638 [GRCh38] Chr6:1610873 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1337delinsGCGG (p.His446delinsArgGly)	indel	Axenfeld-Rieger syndrome type 3 [RCV005039591]	Chr6:1611782 [GRCh38] Chr6:1612017 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1372G>A (p.Glu458Lys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039592]	Chr6:1611817 [GRCh38] Chr6:1612052 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1403G>A (p.Gly468Asp)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039593]	Chr6:1611848 [GRCh38] Chr6:1612083 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1430A>G (p.Gln477Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039595]	Chr6:1611875 [GRCh38] Chr6:1612110 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1466C>T (p.Ala489Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005039597]	Chr6:1611911 [GRCh38] Chr6:1612146 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1295C>G (p.Ser432Cys)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005146828]	Chr6:1611740 [GRCh38] Chr6:1611975 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1362G>A (p.Gly454=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005071713]	Chr6:1611807 [GRCh38] Chr6:1612042 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.369G>A (p.Gln123=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005145491]	Chr6:1610814 [GRCh38] Chr6:1611049 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1342G>A (p.Gly448Ser)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005073201]	Chr6:1611787 [GRCh38] Chr6:1612022 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.959C>T (p.Ser320Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005183818]	Chr6:1611404 [GRCh38] Chr6:1611639 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.899C>G (p.Pro300Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005150004]	Chr6:1611344 [GRCh38] Chr6:1611579 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.837G>C (p.Ser279=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005193791]	Chr6:1611282 [GRCh38] Chr6:1611517 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.837G>T (p.Ser279=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005186688]	Chr6:1611282 [GRCh38] Chr6:1611517 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1122G>C (p.Ser374=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005078673]	Chr6:1611567 [GRCh38] Chr6:1611802 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.104G>C (p.Gly35Ala)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005169980]	Chr6:1610549 [GRCh38] Chr6:1610784 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1497C>T (p.Gly499=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005204662]	Chr6:1611942 [GRCh38] Chr6:1612177 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.870C>T (p.Ser290=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005166173]	Chr6:1611315 [GRCh38] Chr6:1611550 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1353_1354insTGC (p.Gly451_Gly452insCys)	insertion	Axenfeld-Rieger syndrome type 3 [RCV005196233]	Chr6:1611796..1611797 [GRCh38] Chr6:1612031..1612032 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.736_756del (p.Leu246_Ala252del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV005206763]	Chr6:1611174..1611194 [GRCh38] Chr6:1611409..1611429 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1359_1364del (p.Gly455_Gly456del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV005207198]	Chr6:1611802..1611807 [GRCh38] Chr6:1612037..1612042 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.971C>T (p.Ala324Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005081562]	Chr6:1611416 [GRCh38] Chr6:1611651 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1317C>G (p.Ser439Arg)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005176619]	Chr6:1611762 [GRCh38] Chr6:1611997 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.667A>T (p.Ile223Phe)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005194856]	Chr6:1611112 [GRCh38] Chr6:1611347 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1533C>T (p.Phe511=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005082911]	Chr6:1611978 [GRCh38] Chr6:1612213 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.317A>C (p.Gln106Pro)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005201417]	Chr6:1610762 [GRCh38] Chr6:1610997 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1301C>T (p.Pro434Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005191312]	Chr6:1611746 [GRCh38] Chr6:1611981 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.198C>G (p.Pro66=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005186678]	Chr6:1610643 [GRCh38] Chr6:1610878 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1612T>A (p.Ser538Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005179074]	Chr6:1612057 [GRCh38] Chr6:1612292 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1493C>T (p.Pro498Leu)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005172329]	Chr6:1611938 [GRCh38] Chr6:1612173 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1431G>T (p.Gln477His)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005195114]	Chr6:1611876 [GRCh38] Chr6:1612111 [GRCh37] Chr6:6p25.3	likely benign
NM_001453.3(FOXC1):c.1552T>C (p.Leu518=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005180224]	Chr6:1611997 [GRCh38] Chr6:1612232 [GRCh37] Chr6:6p25.3	benign
NM_001453.3(FOXC1):c.1478C>T (p.Ala493Val)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005181337]	Chr6:1611923 [GRCh38] Chr6:1612158 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.684C>G (p.Thr228=)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005188652]	Chr6:1611129 [GRCh38] Chr6:1611364 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.581_598del (p.Pro194_Arg199del)	deletion	Axenfeld-Rieger syndrome type 3 [RCV005166912]	Chr6:1611025..1611042 [GRCh38] Chr6:1611260..1611277 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.100G>A (p.Gly34Arg)	single nucleotide variant	Inborn genetic diseases [RCV005339815]	Chr6:1610545 [GRCh38] Chr6:1610780 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.943A>G (p.Thr315Ala)	single nucleotide variant	Inborn genetic diseases [RCV005339821]	Chr6:1611388 [GRCh38] Chr6:1611623 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.26G>C (p.Ser9Thr)	single nucleotide variant	Axenfeld-Rieger syndrome type 3 [RCV005393774]	Chr6:1610471 [GRCh38] Chr6:1610706 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.564G>T (p.Arg188Ser)	single nucleotide variant	Inborn genetic diseases [RCV005339818]	Chr6:1611009 [GRCh38] Chr6:1611244 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.824dup (p.Ser276fs)	duplication	Anterior segment dysgenesis 3 [RCV005252494]	Chr6:1611266..1611267 [GRCh38] Chr6:1611501..1611502 [GRCh37] Chr6:6p25.3	likely pathogenic
NM_001453.3(FOXC1):c.613C>T (p.Pro205Ser)	single nucleotide variant	Inborn genetic diseases [RCV005339816]	Chr6:1611058 [GRCh38] Chr6:1611293 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.1625C>A (p.Thr542Lys)	single nucleotide variant	Inborn genetic diseases [RCV005339819]	Chr6:1612070 [GRCh38] Chr6:1612305 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.760G>T (p.Val254Leu)	single nucleotide variant	Inborn genetic diseases [RCV005339820]	Chr6:1611205 [GRCh38] Chr6:1611440 [GRCh37] Chr6:6p25.3	uncertain significance
NM_001453.3(FOXC1):c.719del (p.Leu240fs)	deletion	Axenfeld-Rieger syndrome type 3 [RCV005252411]	Chr6:1611164 [GRCh38] Chr6:1611399 [GRCh37] Chr6:6p25.3	likely pathogenic

miRNA Target Status (No longer updated)

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR204	hsa-miR-204-5p	Mirtarbase	external_info	Luciferase reporter assay//Western blot//Reporter	Functional MTI	21400511
MIR204	hsa-miR-204-5p	Tarbase	external_info	Reporter Gene	POSITIVE
MIR204	hsa-miR-204-5p	OncomiRDB	external_info	NA	NA	21400511

Predicted Target Of

	Summary Value
Count of predictions:	682
Count of miRNA genes:	474
Interacting mature miRNAs:	549
Transcripts:	ENST00000380874
Prediction methods:	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.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597291225	GWAS1387299_H	hypertension QTL GWAS1387299 (human)		5e-09	blood pressure trait (VT:0000183)		6	1613451	1613452	Human
2289408	BW324_H	Body weight QTL 324 (human)	3.15	0.0001	Body fat amount		6	1	20803913	Human
1643418	BW282_H	Body Weight QTL 282 (human)	2.07	0.001	Body weight		6	1	19321359	Human
597110196	GWAS1206270_H	systolic blood pressure QTL GWAS1206270 (human)		4e-14	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	6	1613451	1613452	Human
597033599	GWAS1129673_H	heel bone mineral density QTL GWAS1129673 (human)		2e-12	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	6	1613451	1613452	Human
2289320	BW390_H	Body weight QTL 390 (human)	2.13		Body weight	BMI	6	1	19321359	Human
597424782	GWAS1520856_H	systolic blood pressure QTL GWAS1520856 (human)		3e-11	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	6	1613451	1613452	Human
2289435	BMD4_H	Bone mineral density QTL 4 (human)	3.15	0.0001	Bone mineral density		6	1	20803913	Human
2292824	PRSTS5_H	Prostate tumor susceptibility QTL 5 (human)			Prostate tumor susceptibility		6	1	19232373	Human
406937339	GWAS586315_H	heel bone mineral density QTL GWAS586315 (human)		6e-11	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	6	1613451	1613452	Human
596955112	GWAS1074631_H	hypertension QTL GWAS1074631 (human)		5e-09	hypertension		6	1613451	1613452	Human
1643495	BW291_H	Body Weight QTL 291 (human)	2.13		Body weight	BMI	6	1	19321359	Human
407112251	GWAS761227_H	waist-hip ratio QTL GWAS761227 (human)		9e-10	body size trait (VT:0100005)	waist to hip ratio (WHR) (CMO:0000020)	6	1613451	1613452	Human

Markers in Region

STS-N25875

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	1,613,922 - 1,614,075	UniSTS	GRCh37
Build 36	6	1,558,921 - 1,559,074	RGD	NCBI36
Celera	6	2,842,150 - 2,842,303	RGD
Cytogenetic Map	6	p25	UniSTS
HuRef	6	1,483,475 - 1,483,628	UniSTS
GeneMap99-GB4 RH Map	6	14.97	UniSTS

RH80486

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	1,612,211 - 1,612,417	UniSTS	GRCh37
Build 36	6	1,557,210 - 1,557,416	RGD	NCBI36
Celera	6	2,840,439 - 2,840,645	RGD
Cytogenetic Map	6	p25	UniSTS
HuRef	6	1,481,764 - 1,481,970	UniSTS

RH102339

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	1,612,708 - 1,612,885	UniSTS	GRCh37
Build 36	6	1,557,707 - 1,557,884	RGD	NCBI36
Celera	6	2,840,936 - 2,841,113	RGD
Cytogenetic Map	6	p25	UniSTS
HuRef	6	1,482,261 - 1,482,438	UniSTS
GeneMap99-GB4 RH Map	6	10.37	UniSTS

STS-N22552

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	1,612,783 - 1,612,928	UniSTS	GRCh37
Build 36	6	1,557,782 - 1,557,927	RGD	NCBI36
Celera	6	2,841,011 - 2,841,156	RGD
Cytogenetic Map	6	p25	UniSTS
HuRef	6	1,482,336 - 1,482,481	UniSTS
GeneMap99-GB4 RH Map	6	14.97	UniSTS

UniSTS:480885

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	1,610,681 - 1,612,342	UniSTS	GRCh37
Celera	6	2,838,909 - 2,840,570	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2426	2788	2242	4942	1720	2341	4	620	1804	462	2268	7133	6313	50	3706	847	1731	1610	171

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF048693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF078096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK021858	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL034344	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY228703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY228704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY228705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC134421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ282997	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF855955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L12143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	PP895327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U13221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000645831 ⟹ ENSP00000493906

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	1,609,915 - 1,613,897 (+)	Ensembl

RefSeq Acc Id:

NM_001453 ⟹ NP_001444

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	1,609,915 - 1,613,897 (+)	NCBI
GRCh37	6	1,610,681 - 1,614,132 (+)	ENTREZGENE
Build 36	6	1,555,680 - 1,559,131 (+)	NCBI Archive
HuRef	6	1,480,597 - 1,483,685 (+)	ENTREZGENE
CHM1_1	6	1,612,575 - 1,616,026 (+)	NCBI
T2T-CHM13v2.0	6	1,472,916 - 1,476,901 (+)	NCBI

Sequence:

show sequence

GCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAA
AGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTT
GGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGG
GCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAG
TTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGC
GGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGA
GGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCG
GACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGG
GCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTG
GTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCT
ACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGG
CGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCG
CCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCC
TGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTG
GCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGAC
AAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACG
GCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAA
GGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAG
CAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCG
AGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAG
CGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGC
AGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGC
CGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCAT
GACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCG
GCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCC
AGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGG
CGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCC
ATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCG
GCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTC
GTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCT
GCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACT
TGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTC
GGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGT
AGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACG
ACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCT
AAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGA
GAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACG
AAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAA
ACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTAC
TCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCC
CTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGG
GGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAAT
TGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTT
CCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGG
GAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGT
TTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTT
AATTATTACGAAAAAAGATTTCAGAGATAAAACACTAGAAGTTACCTATTCTCCACCTAAATCT
CTGAAAAATGGAGAAACCCTCTGACTAGTCCATGTCAAATTTTACTAAAAGTCTTTTTGTTTAG
ATTTATTTTCCTGCAGCATCTTCTGCAAAATGTACTATATAGTCAGCTTGCTTTGAGGCTAGTA
AAAAGATATTTTTCTAAACAGATTGGAGTTGGCATATAAACAAATACGTTTTCTCACTAATGAC
AGTCCATGATTCGGAAATTTTAAGCCCATGAATCAGCCGCGGTCTTACCACGGTGATGCCTGTG
TGCCGAGAGATGGGACTGTGCGGCCAGATATGCACAGATAAATATTTGGCTTGTGTATTCCATA
TAAAATTGCAGTGCATATTATACATCCCTGTGAGCCAGATGCTGAATAGATATTTTCCTATTAT
TTCAGTCCTTTATAAAAGGAAAAATAAACCAGTTTTTAAATGTATGTATATAATTCTCCCCCAT
TTACAATCCTTCATGTATTACATAGAAGGATTGCTTTTTTAAAAATATACTGCGGGTTGGAAAG
GGATATTTAATCTTTGAGAAACTATTTTAGAAAATATGTTTGTAGAACAATTATTTTTGAAAAA
GATTTAAAGCAATAACAAGAAGGAAGGCGAGAGGAGCAGAACATTTTGGTCTAGGGTGGTTTCT
TTTTAAACCATTTTTTCTTGTTAATTTACAGTTAAACCTAGGGGACAATCCGGATTGGCCCTCC
CCCTTTTGTAAATAACCCAGGAAATGTAATAAATTCATTATCTTAGGGTGATCTGCCCTGCCAA
TCAGACTTTGGGGAGATGGCGATTTGATTACAGACGTTCGGGGGGGTGGGGGGCTTGCAGTTTG
TTTTGGAGATAATACAGTTTCCTGCTATCTGCCGCTCCTATCTAGAGGCAACACTTAAGCAGTA
ATTGCTGTTGCTTGTTGTCAAAATTTGATCATTGTTAAAGGATTGCTGCAAATAAATACACTTT
AATTTCAGTCAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001444	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA92038	(Get FASTA)	NCBI Sequence Viewer
	AAC18081	(Get FASTA)	NCBI Sequence Viewer
	AAC72915	(Get FASTA)	NCBI Sequence Viewer
	AAI34422	(Get FASTA)	NCBI Sequence Viewer
	AAK13575	(Get FASTA)	NCBI Sequence Viewer
	AAP15181	(Get FASTA)	NCBI Sequence Viewer
	ACS83750	(Get FASTA)	NCBI Sequence Viewer
	AHI85954	(Get FASTA)	NCBI Sequence Viewer
	EAW55074	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000493906
	ENSP00000493906.1
GenBank Protein	Q12948	(Get FASTA)	NCBI Sequence Viewer
	XBS31434	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001444 ⟸ NM_001453

- UniProtKB:

Q9UDD0 (UniProtKB/Swiss-Prot), Q9NUE5 (UniProtKB/Swiss-Prot), Q9BYM1 (UniProtKB/Swiss-Prot), Q86UP7 (UniProtKB/Swiss-Prot), Q9UP06 (UniProtKB/Swiss-Prot), Q12948 (UniProtKB/Swiss-Prot), W6CJ52 (UniProtKB/TrEMBL), A0AAU7P1G8 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAY
GPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQGWQNSIRH
NLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAVKDKEEKDRLHLK
EPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPLSPAAALGSGSAAAVPK
IESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAPPPHHSQGFSVDNIMTSLRGS
PQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAA
GGAGGAGTYHCNLQAMSLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGG
GGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGGDLGHLASAAAAAAAAGYPGQQQNFHSVREMFE
SQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF

hide sequence

Ensembl Acc Id:

ENSP00000493906 ⟸ ENST00000645831

Protein Domains

Fork-head

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q12948-F1-model_v2	AlphaFold	Q12948	1-553	view protein structure

Promoters

RGD ID:

6804241

Promoter ID:

HG_KWN:52089

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000043450

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	1,555,046 - 1,558,362 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3800	AgrOrtholog
COSMIC	FOXC1	COSMIC
Ensembl Genes	ENSG00000054598	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000645831	ENTREZGENE
	ENST00000645831.2	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000054598	GTEx
HGNC ID	HGNC:3800	ENTREZGENE
Human Proteome Map	FOXC1	Human Proteome Map
InterPro	Fork_head_dom	UniProtKB/Swiss-Prot
	FOX_domain-containing	UniProtKB/Swiss-Prot
	FOXC1/C2-like_FH	UniProtKB/Swiss-Prot
	TF_fork_head_CS_1	UniProtKB/Swiss-Prot
	TF_fork_head_CS_2	UniProtKB/Swiss-Prot
	WH-like_DNA-bd_sf	UniProtKB/Swiss-Prot
	WH_DNA-bd_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:2296	UniProtKB/Swiss-Prot
NCBI Gene	2296	ENTREZGENE
OMIM	601090	OMIM
PANTHER	FORKHEAD BOX PROTEIN	UniProtKB/Swiss-Prot
	PTHR11829:SF68	UniProtKB/Swiss-Prot
Pfam	Forkhead	UniProtKB/Swiss-Prot
PharmGKB	PA28217	PharmGKB
PRINTS	FORKHEAD	UniProtKB/Swiss-Prot
PROSITE	FORK_HEAD_1	UniProtKB/Swiss-Prot
	FORK_HEAD_2	UniProtKB/Swiss-Prot
	FORK_HEAD_3	UniProtKB/Swiss-Prot
SMART	SM00339	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46785	UniProtKB/Swiss-Prot
UniProt	A0AAU7P1G8	ENTREZGENE, UniProtKB/TrEMBL
	A3KPE3_HUMAN	UniProtKB/TrEMBL
	C6KMR8_HUMAN	UniProtKB/TrEMBL
	FOXC1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q86UP7	ENTREZGENE
	Q9BYM1	ENTREZGENE
	Q9NUE5	ENTREZGENE
	Q9UDD0	ENTREZGENE
	Q9UP06	ENTREZGENE
	W6CJ52	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	Q86UP7	UniProtKB/Swiss-Prot
	Q9BYM1	UniProtKB/Swiss-Prot
	Q9NUE5	UniProtKB/Swiss-Prot
	Q9UDD0	UniProtKB/Swiss-Prot
	Q9UP06	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-08-23	FOXC1	forkhead box C1	IHG1	iris hypoplasia with glaucoma 1	Data merged from RGD:1346066	737654	PROVISIONAL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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