TYR (tyrosinase) - Rat Genome Database

Name: TYR
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: TYR (tyrosinase) Homo sapiens

Analyze

Symbol:

TYR

Name:

tyrosinase

RGD ID:

1346000

HGNC Page

HGNC:12442

Description:

Enables copper ion binding activity; identical protein binding activity; and tyrosinase activity. Involved in melanin biosynthetic process and response to blue light. Located in intracellular membrane-bounded organelle and perinuclear region of cytoplasm. Implicated in several diseases, including melanoma (multiple); ocular albinism 1; oculocutaneous albinism (multiple); retinoschisis; and vitiligo. Biomarker of melanoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATN; CMM8; LB24-AB; monophenol monooxygenase; OCA1; OCA1A; OCAIA; oculocutaneous albinism IA; SHEP3; SK29-AB; tumor rejection antigen AB

RGD Orthologs

Alliance Genes

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):	Tyr (tyrosinase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tyr (tyrosinase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tyr (tyrosinase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TYR (tyrosinase)	NCBI	Ortholog
Canis lupus familiaris (dog):	TYR (tyrosinase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tyr (tyrosinase)	NCBI	Ortholog
Sus scrofa (pig):	TYR (tyrosinase)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TYR (tyrosinase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tyr (tyrosinase)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Ybx3 (Y box binding protein 3)	HGNC	OMA
Alliance orthologs ³
Mus musculus (house mouse):	Tyr (tyrosinase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Tyr (tyrosinase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tyr (tyrosinase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	tyr-1	Alliance	DIOPT (InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tyr-2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tyr-3	Alliance	DIOPT (InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tyr-5	Alliance	DIOPT (InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tyr-4	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tyr.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	tyr	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tyr.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

TYRL

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	11	89,177,875 - 89,295,759 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	89,177,875 - 89,295,759 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	88,911,043 - 89,028,927 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	88,550,688 - 88,668,575 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	88,550,687 - 88,668,474	NCBI
Celera	11	85,603,013 - 85,720,910 (-)	NCBI		Celera
Cytogenetic Map	11	q14.3	NCBI
HuRef	11	85,151,456 - 85,265,865 (+)	NCBI		HuRef
CHM1_1	11	88,794,044 - 88,911,928 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	89,097,534 - 89,215,415 (+)	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

Albinism (IAGP,ISO)

basal cell carcinoma (EXP)

breast cancer (IAGP)

buphthalmos (ISS)

Choroidal Neovascularization (IAGP)

Eye Abnormalities (IAGP)

familial melanoma (IAGP)

Foveal Hypoplasia (IAGP)

genetic disease (IAGP)

Hearing Loss (IAGP)

intellectual disability (IAGP)

Keratosis Palmoplantaris with Periodontopathia and Onychogryposis (IAGP)

melanoma (EXP,IDA,IEP)

myopia (IAGP)

Neoplasm Metastasis (IEP)

Nonsyndromic Oculocutaneous Albinism (IAGP)

ocular albinism 1 (IAGP)

ocular albinism with sensorineural deafness (IAGP)

oculocutaneous albinism (EXP,IAGP,ISO,ISS)

Oculocutaneous Albinism Type I, Temperature-Sensitive (IAGP)

oculocutaneous albinism type IA (EXP,IAGP,IDA,ISO)

oculocutaneous albinism type IB (EXP,IAGP)

papilloma (ISO)

pathologic nystagmus (IAGP)

Presbycusis (ISO)

retinoschisis (IMP)

skin melanoma (IAGP)

Skin Neoplasms (EXP)

Skin/Hair/Eye Pigmentation, Variation In, 3 (IAGP)

vitiligo (IDA)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-artemisinic acid (EXP)

17beta-estradiol (ISO)

1H-imidazole (ISO)

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

2-hydroxypropanoic acid (EXP)

3-(3,4-dihydroxyphenyl)propanoic acid (EXP)

3-isobutyl-1-methyl-7H-xanthine (ISO)

3-phenylpropionic acid (EXP)

4-hydroxynon-2-enal (EXP)

5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (EXP,ISO)

6-propyl-2-thiouracil (ISO)

7,12-dimethyltetraphene (ISO)

9-cis-retinal (EXP)

9-cis-retinoic acid (EXP)

actinomycin D (EXP,ISO)

afzelin (EXP)

all-trans-retinoic acid (ISO)

alpha-melanocyte stimulating hormone (ISO)

amentoflavone (EXP)

amikacin (EXP)

apigenin (ISO)

atrazine (ISO)

bathocuproine disulfonic acid (EXP)

benzo[a]pyrene (ISO)

beta-ionone (EXP)

biochanin A (ISO)

bis(2-chloroethyl) sulfide (EXP)

bisphenol A (ISO)

bisphenol F (EXP)

cannabidiol (EXP)

carnosic acid (ISO)

Carnosol (ISO)

chaetocin (ISO)

chlorogenic acid (EXP)

chlorpromazine (EXP)

chlorpyrifos (ISO)

chrysin (ISO)

cis-caffeic acid (EXP)

colforsin daropate hydrochloride (EXP,ISO)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

copper(II) chloride (EXP)

cyanamide (EXP)

cycloheximide (EXP,ISO)

daidzein (ISO)

dibenziodolium (ISO)

diclofenac (ISO)

dimercaprol (EXP)

dopachrome (ISO)

emodin (EXP)

epoxiconazole (ISO)

estriol (ISO)

ethylenediamine (EXP)

ethylparaben (EXP)

fenofibrate (ISO)

ferulic acid (EXP)

fulvestrant (EXP)

galangin (ISO)

genistein (ISO)

geranic acid (ISO)

glutathione (EXP)

glycidol (ISO)

hydroquinone (EXP)

hydroquinone O-beta-D-glucopyranoside (ISO)

isorhamnetin (ISO)

kenpaullone (ISO)

kojic acid (EXP,ISO)

L-ascorbic acid (EXP)

lawsone (ISO)

loliolide (ISO)

luteolin (ISO)

LY294002 (EXP,ISO)

mefenamic acid (ISO)

melanins (EXP,ISO)

N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide (EXP,ISO)

N-acetyl-L-cysteine (ISO)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (ISO)

N-ethyl-N-nitrosourea (ISO)

N-methyl-N-nitrosourea (ISO)

NAD zwitterion (EXP)

NAD(+) (EXP)

nicotinamide (EXP)

nimesulide (ISO)

nonanedioic acid (ISO)

omacetaxine mepesuccinate (ISO)

omeprazole (EXP,ISO)

phenethyl caffeate (EXP)

phenylephrine (ISO)

phorbol 13-acetate 12-myristate (ISO)

phytol (ISO)

prazosin (ISO)

quercetin (EXP,ISO)

rac-lactic acid (EXP)

reactive oxygen species (EXP)

resorcinol (EXP,ISO)

resveratrol (EXP,ISO)

rottlerin (ISO)

sanguinarine (ISO)

SB 203580 (EXP,ISO)

scoparone (ISO)

stilbenoid (ISO)

sulforaphane (ISO)

Sweroside (ISO)

taurine (ISO)

testosterone (ISO)

theophylline (ISO)

trans-caffeic acid (EXP)

trans-cinnamic acid (EXP)

trichloroethene (ISO)

valproic acid (EXP,ISO)

vemurafenib (EXP)

vinclozolin (ISO)

wortmannin (EXP,ISO)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell population proliferation (IEA,ISO)

eye pigment biosynthetic process (TAS)

melanin biosynthetic process (IBA,IDA,IEA,ISO)

melanin biosynthetic process from tyrosine (TAS)

pigmentation (IBA,IEA,ISO)

response to blue light (IDA)

response to cAMP (IEA,ISO)

response to UV (IEA,ISO)

response to vitamin D (IEA,ISO)

thymus development (IEA,ISO)

visual perception (TAS)

Cellular Component

cytoplasm (IDA)

cytoplasmic vesicle (IEA)

Golgi-associated vesicle (TAS)

intracellular membrane-bounded organelle (IDA)

lysosome (TAS)

melanosome (IEA,ISS)

melanosome membrane (IEA,TAS)

membrane (IEA)

perinuclear region of cytoplasm (IDA)

Molecular Function

copper ion binding (IMP)

identical protein binding (IDA,IEA)

metal ion binding (IEA)

monooxygenase activity (IEA)

oxidoreductase activity (IEA)

protein binding (IPI)

protein homodimerization activity (IEA,ISS)

tyrosinase activity (IBA,IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

alkaptonuria pathway (EXP)

disulfiram pharmacodynamics pathway (EXP)

dopamine beta-hydroxylase deficiency pathway (EXP)

hawkinsinuria pathway (EXP)

riboflavin metabolic pathway (EXP,IEA)

tyrosine metabolic pathway (EXP,IEA)

tyrosinemia type I pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal optic nerve morphology (IAGP)

Abnormal retinal morphology (IAGP)

Abnormality of metabolism/homeostasis (IAGP)

Abnormality of refraction (IAGP)

Abnormality of retinal pigmentation (IAGP)

Abnormality of the eye (IAGP)

Abnormality of the kidney (IAGP)

Abnormality of the pulmonary artery (IAGP)

Abnormality of the skin (IAGP)

Abnormality of visual evoked potentials (IAGP)

Absent skin pigmentation (IAGP)

Aganglionic megacolon (IAGP)

Albinism (IAGP)

Astigmatism (IAGP)

Autosomal recessive inheritance (IAGP)

Basal cell carcinoma (IAGP)

Blue irides (IAGP)

Breast carcinoma (IAGP)

Choroidal neovascularization (IAGP)

Congenital onset (IAGP)

Elevated hepatic transaminase (IAGP)

Exotropia (IAGP)

Fair hair (IAGP)

Freckling (IAGP)

Hearing impairment (IAGP)

Heterochromia iridis (IAGP)

Horizontal nystagmus (IAGP)

Hyperkeratosis (IAGP)

Hypopigmentation of hair (IAGP)

Hypopigmentation of the fundus (IAGP)

Hypopigmentation of the skin (IAGP)

Hypopigmented skin patches (IAGP)

Hypoplasia of the fovea (IAGP)

Intellectual disability (IAGP)

Iris hypopigmentation (IAGP)

Iris transillumination defect (IAGP)

Melanocytic nevus (IAGP)

Melanoma (IAGP)

Myopia (IAGP)

Nystagmus (IAGP)

Ocular albinism (IAGP)

Photophobia (IAGP)

Premature graying of hair (IAGP)

Ptosis (IAGP)

Reduced visual acuity (IAGP)

Sensorineural hearing impairment (IAGP)

Severe periodontitis (IAGP)

Slow decrease in visual acuity (IAGP)

Squamous cell carcinoma of the skin (IAGP)

Strabismus (IAGP)

Telecanthus (IAGP)

Thickened skin (IAGP)

Visual impairment (IAGP)

White forelock (IAGP)

White hair (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Tyrosinase as an autoantigen in patients with vitiligo.	Baharav E, etal., Clin Exp Immunol. 1996 Jul;105(1):84-8.
2.	A Tyrosinase missense mutation causes albinism in the Wistar rat.	Blaszczyk WM, etal., Pigment Cell Res. 2005 Apr;18(2):144-5.
3.	Immunity to melanin and to tyrosinase in melanoma patients, and in people with vitiligo.	Dordic M, etal., BMC Complement Altern Med. 2012 Jul 26;12:109.
4.	Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.	Fukai K, etal., Nat Genet. 1995 Jan;9(1):92-5.
5.	AAV-mediated tyrosinase gene transfer restores melanogenesis and retinal function in a model of oculo-cutaneous albinism type I (OCA1).	Gargiulo A, etal., Mol Ther. 2009 Aug;17(8):1347-54. doi: 10.1038/mt.2009.112. Epub 2009 May 12.
6.	A transgenic mouse model with inducible Tyrosinase gene expression using the tetracycline (Tet-on) system allows regulated rescue of abnormal chiasmatic projections found in albinism.	Gimenez E, etal., Pigment Cell Res. 2004 Aug;17(4):363-70.
7.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
8.	Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.	Hu HH, etal., J Dermatol Sci. 2011 Nov;64(2):127-33. doi: 10.1016/j.jdermsci.2011.07.003. Epub 2011 Aug 22.
9.	Tyrosinase is the modifier of retinoschisis in mice.	Johnson BA, etal., Genetics. 2010 Dec;186(4):1337-44. doi: 10.1534/genetics.110.120840. Epub 2010 Sep 27.
10.	Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.	Ko JM, etal., Mol Med Rep. 2012 Apr;5(4):943-8. doi: 10.3892/mmr.2012.764. Epub 2012 Jan 25.
11.	Peripheral blood tyrosinase messenger RNA detection and survival in malignant melanoma.	Kunter U, etal., J Natl Cancer Inst. 1996 May 1;88(9):590-4.
12.	Molecular basis of mouse Himalayan mutation.	Kwon BS, etal., Biochem Biophys Res Commun. 1989 May 30;161(1):252-60.
13.	A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.	Lin YY, etal., Chin Med J (Engl). 2011 Oct;124(20):3358-61.
14.	Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1.	Liu J, etal., Clin Experiment Ophthalmol. 2010 Jan;38(1):37-42. doi: 10.1111/j.1442-9071.2009.02220.x.
15.	Efficient gene targeting by TAL effector nucleases coinjected with exonucleases in zygotes.	Mashimo T, etal., Sci Rep. 2013;3:1253. doi: 10.1038/srep01253. Epub 2013 Feb 13.
16.	Melanin precursors prevent premature age-related and noise-induced hearing loss in albino mice.	Murillo-Cuesta S, etal., Pigment Cell Melanoma Res. 2010 Feb;23(1):72-83. doi: 10.1111/j.1755-148X.2009.00646.x. Epub 2009 Oct 19.
17.	Absence of strial melanin coincides with age-associated marginal cell loss and endocochlear potential decline.	Ohlemiller KK, etal., Hear Res. 2009 Mar;249(1-2):1-14. doi: 10.1016/j.heares.2008.12.005. Epub 2008 Dec 25.
18.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
19.	Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism.	Park KC, etal., Jpn J Hum Genet. 1996 Sep;41(3):299-305.
20.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
21.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
22.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
23.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
24.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
25.	Loss of tyrosinase activity confers increased skin tumor susceptibility in mice.	Saran A, etal., Oncogene. 2004 May 20;23(23):4130-5.
26.	Molecular basis of dark-eyed albinism in the mouse.	Schmidt A and Beermann F, Proc Natl Acad Sci U S A. 1994 May 24;91(11):4756-60.
27.	Melanization in albino mice transformed by introducing cloned mouse tyrosinase gene.	Tanaka S, etal., Development. 1990 Feb;108(2):223-7.
28.	Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.	Tripathi RK, etal., Am J Med Genet. 1992 Jul 15;43(5):865-71.
29.	Prognosis of metastatic melanoma: no correlation of tyrosinase mRNA in bone marrow and survival time.	Waldmann V, etal., Recent Results Cancer Res. 2001;158:118-25.
30.	[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].	Zheng H, etal., Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2011 Aug;27(3):329-32.

Additional References at PubMed

PMID:666627	PMID:1145200	PMID:1487241	PMID:1711223	PMID:1832718	PMID:1899321	PMID:1900307	PMID:1900309	PMID:1903356	PMID:1903591	PMID:1905879	PMID:1943686
PMID:1970634	PMID:2113511	PMID:2120217	PMID:2342539	PMID:2480811	PMID:2499655	PMID:2504160	PMID:2511845	PMID:2823263	PMID:2854305	PMID:3146546	PMID:5516239
PMID:7902671	PMID:7955413	PMID:8040609	PMID:8126111	PMID:8128955	PMID:8234203	PMID:8340755	PMID:8477259	PMID:8644824	PMID:8889548	PMID:9158138	PMID:9259202
PMID:10094567	PMID:10571953	PMID:10671066	PMID:10766867	PMID:10823941	PMID:10987646	PMID:11092760	PMID:11153699	PMID:11214319	PMID:11295837	PMID:11532853	PMID:11710942
PMID:11720436	PMID:11812790	PMID:11858948	PMID:12028586	PMID:12477932	PMID:12519123	PMID:12565907	PMID:12579416	PMID:12643545	PMID:12710945	PMID:12727022	PMID:12817591
PMID:12925214	PMID:14623273	PMID:14634018	PMID:15146472	PMID:15210908	PMID:15381243	PMID:15489334	PMID:15635296	PMID:15677452	PMID:15716956	PMID:15838343	PMID:15854130
PMID:15885985	PMID:15958486	PMID:16056219	PMID:16162817	PMID:16272362	PMID:16417222	PMID:16447258	PMID:16477373	PMID:16517127	PMID:16565383	PMID:16737954	PMID:16907708
PMID:17081065	PMID:17200659	PMID:17265558	PMID:17496782	PMID:17496783	PMID:17516931	PMID:17718595	PMID:17766092	PMID:17850513	PMID:17952075	PMID:17999355	PMID:18181974
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PMID:19384953	PMID:19578364	PMID:19625176	PMID:19626598	PMID:19692168	PMID:19710684	PMID:19865097	PMID:20006830	PMID:20083666	PMID:20301345	PMID:20410501	PMID:20426782
PMID:20585627	PMID:20588308	PMID:20861488	PMID:20861851	PMID:21197618	PMID:21199683	PMID:21541274	PMID:21873635	PMID:21983787	PMID:22042571	PMID:22259223	PMID:22402439
PMID:22447455	PMID:22464347	PMID:22531911	PMID:22561518	PMID:22895365	PMID:22898827	PMID:23085273	PMID:23165166	PMID:23242301	PMID:23326517	PMID:23548203	PMID:23884313
PMID:24040225	PMID:24107097	PMID:24118800	PMID:24612747	PMID:24721949	PMID:24739399	PMID:24862846	PMID:24934919	PMID:24936769	PMID:24980573	PMID:25130058	PMID:25216246
PMID:25455140	PMID:25577957	PMID:25687215	PMID:25703744	PMID:25724930	PMID:25919014	PMID:26167114	PMID:26580798	PMID:26663053	PMID:27363653	PMID:27720922	PMID:27775880
PMID:27829221	PMID:28097678	PMID:28507374	PMID:28640309	PMID:28667292	PMID:28700943	PMID:28842328	PMID:29870551	PMID:30232588	PMID:30341532	PMID:30445206	PMID:30472657
PMID:30652415	PMID:31077632	PMID:32115698	PMID:32552135	PMID:32731326	PMID:32915910	PMID:32966289	PMID:33177702	PMID:33314655	PMID:33599182	PMID:33671632	PMID:33800529
PMID:34107850	PMID:34199192	PMID:34536557	PMID:34980106	PMID:35328057	PMID:35413289	PMID:35803923	PMID:37053367	PMID:37403904	PMID:37471664

Genomics

Comparative Map Data

TYR
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	89,177,875 - 89,295,759 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	89,177,875 - 89,295,759 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	88,911,043 - 89,028,927 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	88,550,688 - 88,668,575 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	88,550,687 - 88,668,474	NCBI
Celera	11	85,603,013 - 85,720,910 (-)	NCBI		Celera
Cytogenetic Map	11	q14.3	NCBI
HuRef	11	85,151,456 - 85,265,865 (+)	NCBI		HuRef
CHM1_1	11	88,794,044 - 88,911,928 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	89,097,534 - 89,215,415 (+)	NCBI		T2T-CHM13v2.0

Tyr
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	87,073,979 - 87,142,637 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	87,073,979 - 87,142,720 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	87,424,771 - 87,493,512 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	87,424,771 - 87,493,512 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	94,575,915 - 94,641,921 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	87,303,166 - 87,369,172 (-)	NCBI		MGSCv36	mm8
Celera	7	84,786,868 - 84,854,808 (-)	NCBI		Celera
Cytogenetic Map	7	D3	NCBI
cM Map	7	49.01	NCBI

Tyr
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	1	141,115,036 - 141,210,207 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	141,115,036 - 141,210,207 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	149,090,247 - 149,179,011 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	156,260,901 - 156,349,657 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	149,134,804 - 149,223,566 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	151,012,598 - 151,106,802 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	151,012,598 - 151,106,802 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	157,322,968 - 157,416,594 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	143,641,257 - 143,746,315 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	139,445,261 - 139,532,999 (-)	NCBI		Celera
Cytogenetic Map	1	q32	NCBI

Tyr
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955414	4,244,035 - 4,314,001 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	4,244,035 - 4,314,001 (-)	NCBI	ChiLan1.0	ChiLan1.0

TYR
(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	11	91,099,017 - 91,216,729 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	84,188,557 - 84,306,686 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	87,769,989 - 87,888,138 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	87,769,606 - 87,888,138 (+)	Ensembl	panpan1.1		panPan2

TYR
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	10,799,940 - 10,894,187 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	10,799,940 - 10,894,191 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	10,649,581 - 10,749,918 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	10,980,195 - 11,074,816 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	10,980,195 - 11,074,820 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	10,768,466 - 10,862,962 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	10,834,102 - 10,934,647 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	10,884,281 - 10,984,898 (-)	NCBI		UU_Cfam_GSD_1.0

Tyr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	74,823,234 - 74,920,675 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936736	421,598 - 519,253 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936736	421,623 - 519,085 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TYR
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	22,517,047 - 22,604,290 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	22,517,047 - 22,604,290 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	25,164,768 - 25,214,580 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TYR
(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	1	80,330,051 - 80,444,646 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666043	45,283,848 - 45,401,720 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tyr
(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_004624845	844,293 - 933,098 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624845	844,492 - 933,098 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TYR
418 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000033111]\|not provided [RCV002513316]	Chr11:89178225 [GRCh38] Chr11:88911393 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.929dup (p.Arg311fs)	duplication	Inborn genetic diseases [RCV000623277]\|Tyrosinase-negative oculocutaneous albinism [RCV000003969]\|not provided [RCV000085980]	Chr11:89191307..89191308 [GRCh38] Chr11:88924475..88924476 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	single nucleotide variant	Albinism [RCV000505170]\|Inborn genetic diseases [RCV000623980]\|Oculocutaneous albinism [RCV000599844]\|Oculocutaneous albinism type 1B [RCV001249700]\|TYR-related disorder [RCV003387499]\|Tyrosinase-negative oculocutaneous albinism [RCV000003970]\|Tyrosinase-negative oculocutaneous albinism [RCV002496249]\|not provided [RCV000085939]	Chr11:89178195 [GRCh38] Chr11:88911363 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	single nucleotide variant	Oculocutaneous albinism [RCV000778348]\|Oculocutaneous albinism type 1B [RCV000003972]\|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV001542595]\|Tyrosinase-negative oculocutaneous albinism [RCV000192471]\|Tyrosinase-negative oculocutaneous albinism [RCV002476919]\|not provided [RCV000085973]	Chr11:89191205 [GRCh38] Chr11:88924373 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	single nucleotide variant	Oculocutaneous albinism [RCV000335429]\|Oculocutaneous albinism type 1B [RCV003150806]\|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV001542596]\|TYR-related disorder [RCV003387500]\|Tyrosinase-negative oculocutaneous albinism [RCV000003973]\|Tyrosinase-negative oculocutaneous albinism [RCV002476920]\|not provided [RCV000085898]	Chr11:89227904 [GRCh38] Chr11:88961072 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	single nucleotide variant	Inborn genetic diseases [RCV001266635]\|Nonsyndromic Oculocutaneous Albinism [RCV000755077]\|Oculocutaneous albinism [RCV003230346]\|Tyrosinase-negative oculocutaneous albinism [RCV000003974]\|Tyrosinase-negative oculocutaneous albinism [RCV000680155]\|Tyrosinase-negative oculocutaneous albinism [RCV000762870]\|not provided [RCV000085903]	Chr11:89227933 [GRCh38] Chr11:88961101 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)	single nucleotide variant	Oculocutaneous albinism type 1B [RCV000984954]\|See cases [RCV003156054]\|Tyrosinase-negative oculocutaneous albinism [RCV000003975]\|Tyrosinase-negative oculocutaneous albinism [RCV002476921]\|not provided [RCV000085934]	Chr11:89178183 [GRCh38] Chr11:88911351 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	single nucleotide variant	Abnormality of the skin [RCV001813946]\|Hearing impairment [RCV001375218]\|Inborn genetic diseases [RCV000623187]\|Oculocutaneous albinism [RCV000400442]\|Oculocutaneous albinism type 1B [RCV000003976]\|Tyrosinase-negative oculocutaneous albinism [RCV000500113]\|Tyrosinase-negative oculocutaneous albinism [RCV000762872]\|not provided [RCV000085913]	Chr11:89284805 [GRCh38] Chr11:89017973 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	single nucleotide variant	Oculocutaneous albinism [RCV000341159]\|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV000003977]\|Tyrosinase-negative oculocutaneous albinism [RCV000055807]\|not provided [RCV000085955]\|not specified [RCV000173114]	Chr11:89178528 [GRCh38] Chr11:88911696 [GRCh37] Chr11:11q14.3	association\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	single nucleotide variant	Autosomal recessive ocular albinism [RCV000721172]\|Foveal hypoplasia [RCV000626673]\|Malignant tumor of breast [RCV001269379]\|Melanoma, cutaneous malignant, susceptibility to, 8 [RCV000003980]\|Oculocutaneous albinism [RCV000379382]\|Oculocutaneous albinism type 1B [RCV000003978]\|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV000003981]\|Skin/hair/eye pigmentation 3, blue/green eyes [RCV000003982]\|Temperature-sensitive oculocutaneous albinism type 1 [RCV000003979]\|Tyrosinase-negative oculocutaneous albinism [RCV000500466]\|not provided [RCV000085910]\|not specified [RCV000254054]	Chr11:89284793 [GRCh38] Chr11:89017961 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|risk factor\|association\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters\|other\|not provided
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	single nucleotide variant	Albinism [RCV000626678]\|Tyrosinase-negative oculocutaneous albinism [RCV000003984]\|not provided [RCV000085941]	Chr11:89178218 [GRCh38] Chr11:88911386 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)	single nucleotide variant	Oculocutaneous albinism type 1B [RCV003238721]\|Temperature-sensitive oculocutaneous albinism type 1 [RCV000003985]\|not provided [RCV000085916]	Chr11:89284853 [GRCh38] Chr11:89018021 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.2(TYR):c.-199C>A	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000003986]\|not provided [RCV000085882]	Chr11:89177755 [GRCh38] Chr11:88910923 [GRCh37] Chr11:11q14.3	pathogenic\|benign\|not provided
NM_000372.5(TYR):c.533G>A (p.Trp178Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000003987]\|not provided [RCV000085953]	Chr11:89178486 [GRCh38] Chr11:88911654 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.4(TYR):c.568delG (p.Gly191Aspfs)	deletion	Oculocutaneous albinism type 1A [RCV000003988]\|Tyrosinase-negative oculocutaneous albinism [RCV000003988]	Chr11:89178521 [GRCh38] Chr11:88911689 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000003989]\|not provided [RCV000085902]	Chr11:89227932 [GRCh38] Chr11:88961100 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)	microsatellite	Tyrosinase-negative oculocutaneous albinism [RCV000003990]\|not provided [RCV000085968]	Chr11:89178682..89178683 [GRCh38] Chr11:88911850..88911851 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.286dup (p.Met96fs)	duplication	Abnormality of the skin [RCV001813947]\|Tyrosinase-negative oculocutaneous albinism [RCV000003991]\|not provided [RCV000085942]	Chr11:89178238..89178239 [GRCh38] Chr11:88911406..88911407 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.125A>G (p.Asp42Gly)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000003992]\|not provided [RCV000085915]	Chr11:89178078 [GRCh38] Chr11:88911246 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	single nucleotide variant	Oculocutaneous albinism [RCV000778345]\|Oculocutaneous albinism type 1B [RCV002288461]\|Tyrosinase-negative oculocutaneous albinism [RCV000003993]\|Tyrosinase-negative oculocutaneous albinism [RCV000763288]\|not provided [RCV000085930]	Chr11:89178117 [GRCh38] Chr11:88911285 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000003994]\|not provided [RCV000085958]	Chr11:89178569 [GRCh38] Chr11:88911737 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755080]\|Oculocutaneous albinism type 1 [RCV001554298]\|Tyrosinase-negative oculocutaneous albinism [RCV000003995]\|Tyrosinase-negative oculocutaneous albinism [RCV002490305]\|not provided [RCV000085914]	Chr11:89284843 [GRCh38] Chr11:89018011 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.61C>T (p.Pro21Ser)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000003996]\|not provided [RCV000085959]	Chr11:89178014 [GRCh38] Chr11:88911182 [GRCh37] Chr11:11q14.3	pathogenic\|uncertain significance\|not provided
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	single nucleotide variant	Inborn genetic diseases [RCV001267064]\|Oculocutaneous albinism type 1B [RCV000003998]\|Tyrosinase-negative oculocutaneous albinism [RCV000003997]\|Tyrosinase-negative oculocutaneous albinism [RCV000763287]\|not provided [RCV000085925]	Chr11:89178093 [GRCh38] Chr11:88911261 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755070]\|Oculocutaneous albinism type 1B [RCV001332387]\|Tyrosinase-negative oculocutaneous albinism [RCV000003999]\|Tyrosinase-negative oculocutaneous albinism [RCV000763290]\|not provided [RCV000085962]	Chr11:89178602 [GRCh38] Chr11:88911770 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|uncertain significance\|not provided
NM_000372.5(TYR):c.896G>A (p.Arg299His)	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755072]\|See cases [RCV003156055]\|Tyrosinase-negative oculocutaneous albinism [RCV000004000]\|not provided [RCV000085979]	Chr11:89191278 [GRCh38] Chr11:88924446 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000004002]\|not provided [RCV000085897]	Chr11:89227898 [GRCh38] Chr11:88961066 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.1164del (p.His389fs)	deletion	Tyrosinase-negative oculocutaneous albinism [RCV000004003]\|not provided [RCV000085905]	Chr11:89227949 [GRCh38] Chr11:88961117 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000004004]\|not provided [RCV000085911]	Chr11:89284797 [GRCh38] Chr11:89017965 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	single nucleotide variant	Oculocutaneous albinism [RCV000602413]\|Oculocutaneous albinism type 1B [RCV003325937]\|Tyrosinase-negative oculocutaneous albinism [RCV000004005]\|Tyrosinase-negative oculocutaneous albinism [RCV002496250]\|not provided [RCV000085920]	Chr11:89284924 [GRCh38] Chr11:89018092 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000004006]\|not provided [RCV000085921]	Chr11:89284930 [GRCh38] Chr11:89018098 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1467dup (p.Ala490fs)	duplication	Oculocutaneous albinism type 1B [RCV003225016]\|Tyrosinase-negative oculocutaneous albinism [RCV000004007]\|Tyrosinase-negative oculocutaneous albinism [RCV002496251]\|not provided [RCV000085926]	Chr11:89295242..89295243 [GRCh38] Chr11:89028410..89028411 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1501dup (p.Arg501fs)	duplication	Tyrosinase-negative oculocutaneous albinism [RCV000004008]\|not provided [RCV000085928]	Chr11:89295276..89295277 [GRCh38] Chr11:89028444..89028445 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.707G>A (p.Trp236Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000004009]\|not provided [RCV000085966]	Chr11:89178660 [GRCh38] Chr11:88911828 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.646T>A (p.Leu216Met)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000004010]\|not provided [RCV000085960]	Chr11:89178599 [GRCh38] Chr11:88911767 [GRCh37] Chr11:11q14.3	pathogenic\|uncertain significance\|not provided
NM_000372.5(TYR):c.1A>G (p.Met1Val)	single nucleotide variant	Abnormality of the skin [RCV001836693]\|Albinism [RCV000626676]\|Foveal hypoplasia [RCV000626677]\|Horizontal nystagmus [RCV000626675]\|Oculocutaneous albinism [RCV002466393]\|Oculocutaneous albinism type 1B [RCV000004011]\|Tyrosinase-negative oculocutaneous albinism [RCV000193173]\|Tyrosinase-negative oculocutaneous albinism [RCV000763286]\|not provided [RCV000085931]	Chr11:89177954 [GRCh38] Chr11:88911122 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|uncertain significance\|not provided
GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160	copy number loss	Oculocutaneous albinism type 1B [RCV001449970]	Chr11:88960991..88961138 [GRCh37] Chr11:11q14.3	pathogenic
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	copy number loss	See cases [RCV000052710]	Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3	pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	copy number loss	See cases [RCV000052711]	Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2	pathogenic
NM_000372.5(TYR):c.-9_-7delinsGG	indel	not provided [RCV000114970]	Chr11:89177945..89177947 [GRCh38] Chr11:88911113..88911115 [GRCh37] Chr11:11q14.3	uncertain significance\|not provided
NM_000372.4(TYR):c.819+3256T>C	single nucleotide variant	Lung cancer [RCV000110398]	Chr11:89182028 [GRCh38] Chr11:88915196 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.458dup (p.Gly154fs)	duplication	not provided [RCV000085950]	Chr11:89178410..89178411 [GRCh38] Chr11:88911578..88911579 [GRCh37] Chr11:11q14.3	not provided
NM_000372.4(TYR):c.-683_-682insG	duplication	not provided [RCV000085883]	Chr11:89177271..89177272 [GRCh38] Chr11:88910439..88910440 [GRCh37] Chr11:11q14.3	not provided
NM_000372.4(TYR):c.-692_-691insC	duplication	not provided [RCV000085884]	Chr11:89177259..89177260 [GRCh38] Chr11:88910427..88910428 [GRCh37] Chr11:11q14.3	not provided
NM_000372.4(TYR):c.-802_-801insGAGAGGGAGA	microsatellite	not provided [RCV000085885]	Chr11:89177150..89177151 [GRCh38] Chr11:88910318..88910319 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1015A>G (p.Ser339Gly)	single nucleotide variant	not provided [RCV000085886]	Chr11:89191397 [GRCh38] Chr11:88924565 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1018T>C (p.Phe340Leu)	single nucleotide variant	not provided [RCV000085887]	Chr11:89191400 [GRCh38] Chr11:88924568 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1037-1G>A	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000500289]\|Tyrosinase-negative oculocutaneous albinism [RCV002505019]\|not provided [RCV000085888]	Chr11:89227822 [GRCh38] Chr11:88960990 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1037-7T>A	single nucleotide variant	Abnormality of the skin [RCV001814058]\|Albinism [RCV000626672]\|Nonsyndromic Oculocutaneous Albinism [RCV000755074]\|Ocular albinism [RCV002287366]\|Oculocutaneous albinism [RCV000287375]\|Oculocutaneous albinism type 1B [RCV000789026]\|Tyrosinase-negative oculocutaneous albinism [RCV000177050]\|Tyrosinase-negative oculocutaneous albinism [RCV001838981]\|Tyrosinase-negative oculocutaneous albinism [RCV002477252]\|not provided [RCV000085889]	Chr11:89227816 [GRCh38] Chr11:88960984 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001588915]\|not provided [RCV000085890]	Chr11:89227849 [GRCh38] Chr11:88961017 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided
NM_000372.5(TYR):c.1075C>T (p.Gln359Ter)	single nucleotide variant	not provided [RCV000085891]	Chr11:89227861 [GRCh38] Chr11:88961029 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.107G>A (p.Cys36Tyr)	single nucleotide variant	not provided [RCV000085892]	Chr11:89178060 [GRCh38] Chr11:88911228 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1081A>C (p.Ser361Arg)	single nucleotide variant	not provided [RCV000085893]	Chr11:89227867 [GRCh38] Chr11:88961035 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1100A>G (p.His367Arg)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000502383]\|not provided [RCV000085894]	Chr11:89227886 [GRCh38] Chr11:88961054 [GRCh37] Chr11:11q14.3	likely pathogenic\|not provided
NM_000372.5(TYR):c.1109T>C (p.Met370Thr)	single nucleotide variant	not provided [RCV000085895]\|not specified [RCV003323396]	Chr11:89227895 [GRCh38] Chr11:88961063 [GRCh37] Chr11:11q14.3	uncertain significance\|not provided
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001588916]\|not provided [RCV000085896]	Chr11:89227897 [GRCh38] Chr11:88961065 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1126C>T (p.Gln376Ter)	single nucleotide variant	not provided [RCV000085899]	Chr11:89227912 [GRCh38] Chr11:88961080 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1132C>T (p.Gln378Ter)	single nucleotide variant	not provided [RCV000085900]	Chr11:89227918 [GRCh38] Chr11:88961086 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1138T>C (p.Ser380Pro)	single nucleotide variant	not provided [RCV000085901]	Chr11:89227924 [GRCh38] Chr11:88961092 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1161del (p.Leu388fs)	deletion	not provided [RCV000085904]	Chr11:89227946 [GRCh38] Chr11:88961114 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1168C>G (p.His390Asp)	single nucleotide variant	Oculocutaneous albinism [RCV003230403]\|not provided [RCV000085906]	Chr11:89227954 [GRCh38] Chr11:88961122 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.1183A>G (p.Ser395Gly)	single nucleotide variant	not provided [RCV000085907]	Chr11:89227969 [GRCh38] Chr11:88961137 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000503806]\|Tyrosinase-negative oculocutaneous albinism [RCV000762871]\|not provided [RCV000085908]	Chr11:89284787 [GRCh38] Chr11:89017955 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)	single nucleotide variant	Abnormality of the skin [RCV001814059]\|Nonsyndromic Oculocutaneous Albinism [RCV000755079]\|Tyrosinase-negative oculocutaneous albinism [RCV000194121]\|not provided [RCV000085909]	Chr11:89284792 [GRCh38] Chr11:89017960 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.1211A>C (p.His404Pro)	single nucleotide variant	not provided [RCV000085912]	Chr11:89284799 [GRCh38] Chr11:89017967 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1292C>T (p.Pro431Leu)	single nucleotide variant	not provided [RCV000085917]	Chr11:89284880 [GRCh38] Chr11:89018048 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1314_1317del (p.Phe438fs)	deletion	not provided [RCV000085918]	Chr11:89284899..89284902 [GRCh38] Chr11:89018067..89018070 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1315T>G (p.Phe439Val)	single nucleotide variant	not provided [RCV000085919]	Chr11:89284903 [GRCh38] Chr11:89018071 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1357C>T (p.Gln453Ter)	single nucleotide variant	not provided [RCV000085922]	Chr11:89284945 [GRCh38] Chr11:89018113 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.1366+4A>G	single nucleotide variant	Oculocutaneous albinism [RCV001111957]\|Tyrosinase-negative oculocutaneous albinism [RCV000765024]\|Tyrosinase-negative oculocutaneous albinism [RCV001588917]\|not provided [RCV000085923]\|not specified [RCV000418890]	Chr11:89284958 [GRCh38] Chr11:89018126 [GRCh37] Chr11:11q14.3	likely benign\|uncertain significance\|not provided
NM_000372.5(TYR):c.1366+5A>G	single nucleotide variant	not provided [RCV000085924]	Chr11:89284959 [GRCh38] Chr11:89018127 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.149C>G (p.Ser50Ter)	single nucleotide variant	not provided [RCV000085927]	Chr11:89178102 [GRCh38] Chr11:88911270 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.155G>T (p.Arg52Ile)	single nucleotide variant	not provided [RCV000085929]	Chr11:89178108 [GRCh38] Chr11:88911276 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.223del (p.Asp75fs)	deletion	not provided [RCV000085932]	Chr11:89178175 [GRCh38] Chr11:88911343 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000414815]\|not provided [RCV000085933]	Chr11:89178182 [GRCh38] Chr11:88911350 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)	duplication	not provided [RCV000085935]	Chr11:89178182..89178183 [GRCh38] Chr11:88911350..88911351 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.232G>T (p.Glu78Ter)	single nucleotide variant	not provided [RCV000085936]	Chr11:89178185 [GRCh38] Chr11:88911353 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.238T>C (p.Trp80Arg)	single nucleotide variant	not provided [RCV000085937]	Chr11:89178191 [GRCh38] Chr11:88911359 [GRCh37] Chr11:11q14.3	likely pathogenic\|not provided
NM_000372.5(TYR):c.240G>A (p.Trp80Ter)	single nucleotide variant	not provided [RCV000085938]	Chr11:89178193 [GRCh38] Chr11:88911361 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.25del (p.Leu9fs)	deletion	not provided [RCV000085940]	Chr11:89177977 [GRCh38] Chr11:88911145 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.289G>A (p.Gly97Arg)	single nucleotide variant	not provided [RCV000085943]	Chr11:89178242 [GRCh38] Chr11:88911410 [GRCh37] Chr11:11q14.3	likely pathogenic\|not provided
NM_000372.5(TYR):c.2T>C (p.Met1Thr)	single nucleotide variant	not provided [RCV000085944]	Chr11:89177955 [GRCh38] Chr11:88911123 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.325G>A (p.Gly109Arg)	single nucleotide variant	Foveal hypoplasia [RCV000626679]\|not provided [RCV000085945]	Chr11:89178278 [GRCh38] Chr11:88911446 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.338_339del (p.Thr113fs)	microsatellite	Tyrosinase-negative oculocutaneous albinism [RCV001588918]\|not provided [RCV000085946]	Chr11:89178289..89178290 [GRCh38] Chr11:88911457..88911458 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.344_345del (p.Arg115fs)	microsatellite	not provided [RCV000085947]	Chr11:89178292..89178293 [GRCh38] Chr11:88911460..88911461 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000503968]\|Tyrosinase-negative oculocutaneous albinism [RCV000763289]\|not provided [RCV000085948]	Chr11:89178299 [GRCh38] Chr11:88911467 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.456C>T (p.Pro152=)	single nucleotide variant	not provided [RCV000085949]	Chr11:89178409 [GRCh38] Chr11:88911577 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.526T>A (p.Phe176Ile)	single nucleotide variant	not provided [RCV000085951]	Chr11:89178479 [GRCh38] Chr11:88911647 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.53del (p.Gly18fs)	deletion	not provided [RCV000085952]	Chr11:89178005 [GRCh38] Chr11:88911173 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.572del (p.Gly191fs)	deletion	Tyrosinase-negative oculocutaneous albinism [RCV000003988]\|not provided [RCV000085954]	Chr11:89178521 [GRCh38] Chr11:88911689 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.57T>A (p.His19Gln)	single nucleotide variant	not provided [RCV000085956]	Chr11:89178010 [GRCh38] Chr11:88911178 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000502990]\|not provided [RCV000085957]	Chr11:89178566 [GRCh38] Chr11:88911734 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.649C>G (p.Arg217Gly)	single nucleotide variant	not provided [RCV000085961]	Chr11:89178602 [GRCh38] Chr11:88911770 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.649del (p.Arg217fs)	deletion	not provided [RCV000085963]	Chr11:89178602 [GRCh38] Chr11:88911770 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	single nucleotide variant	Oculocutaneous albinism [RCV000778346]\|Tyrosinase-negative oculocutaneous albinism [RCV000194283]\|not provided [RCV000085964]	Chr11:89178603 [GRCh38] Chr11:88911771 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.680_682del (p.Gly227del)	deletion	not provided [RCV000085965]	Chr11:89178631..89178633 [GRCh38] Chr11:88911799..88911801 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.707G>C (p.Trp236Ser)	single nucleotide variant	not provided [RCV000085967]	Chr11:89178660 [GRCh38] Chr11:88911828 [GRCh37] Chr11:11q14.3	not provided
TYR:c.730_731delTG (p.Cys244Terfs)	deletion	not provided [RCV000085968]	Chr11:89178683..89178684 [GRCh38] Chr11:88911851..88911852 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.757G>A (p.Gly253Arg)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001588919]\|not provided [RCV000085969]	Chr11:89178710 [GRCh38] Chr11:88911878 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.766C>T (p.His256Tyr)	single nucleotide variant	not provided [RCV000085970]	Chr11:89178719 [GRCh38] Chr11:88911887 [GRCh37] Chr11:11q14.3	likely pathogenic\|not provided
NM_000372.5(TYR):c.816G>C (p.Trp272Cys)	single nucleotide variant	not provided [RCV000085971]	Chr11:89178769 [GRCh38] Chr11:88911937 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.820-3C>G	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000194448]\|not provided [RCV000085972]	Chr11:89191199 [GRCh38] Chr11:88924367 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755071]\|Oculocutaneous albinism [RCV000778349]\|Tyrosinase-negative oculocutaneous albinism [RCV000502958]\|Tyrosinase-negative oculocutaneous albinism [RCV000762869]\|not provided [RCV000085974]	Chr11:89191214 [GRCh38] Chr11:88924382 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|not provided
NM_000372.5(TYR):c.841del (p.Glu281fs)	deletion	not provided [RCV000085975]	Chr11:89191222 [GRCh38] Chr11:88924390 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.875C>T (p.Thr292Met)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV002477253]\|not provided [RCV000085976]	Chr11:89191257 [GRCh38] Chr11:88924425 [GRCh37] Chr11:11q14.3	uncertain significance\|not provided
NM_000372.5(TYR):c.891A>G (p.Leu297=)	single nucleotide variant	not provided [RCV000085977]	Chr11:89191273 [GRCh38] Chr11:88924441 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000503391]\|not provided [RCV000085978]	Chr11:89191277 [GRCh38] Chr11:88924445 [GRCh37] Chr11:11q14.3	pathogenic\|not provided
NM_000372.5(TYR):c.934C>G (p.Leu312Val)	single nucleotide variant	not provided [RCV000085981]	Chr11:89191316 [GRCh38] Chr11:88924484 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.938C>G (p.Pro313Arg)	single nucleotide variant	not provided [RCV000085982]	Chr11:89191320 [GRCh38] Chr11:88924488 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.973A>G (p.Thr325Ala)	single nucleotide variant	not provided [RCV000085983]	Chr11:89191355 [GRCh38] Chr11:88924523 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.982G>C (p.Glu328Gln)	single nucleotide variant	not provided [RCV000085984]	Chr11:89191364 [GRCh38] Chr11:88924532 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.505_507del (p.Asp169del)	deletion	not provided [RCV000173115]	Chr11:89178456..89178458 [GRCh38] Chr11:88911624..88911626 [GRCh37] Chr11:11q14.3	uncertain significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NM_000372.5(TYR):c.163T>G (p.Cys55Gly)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000133601]	Chr11:89178116 [GRCh38] Chr11:88911284 [GRCh37] Chr11:11q14.3	not provided
NM_000372.5(TYR):c.551C>G (p.Ser184Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000133602]	Chr11:89178504 [GRCh38] Chr11:88911672 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.739T>C (p.Cys247Arg)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000133603]\|Tyrosinase-negative oculocutaneous albinism [RCV000499895]\|not provided [RCV001857485]	Chr11:89178692 [GRCh38] Chr11:88911860 [GRCh37] Chr11:11q14.3	likely pathogenic\|not provided
NM_000372.5(TYR):c.916A>T (p.Lys306Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001294165]	Chr11:89191298 [GRCh38] Chr11:88924466 [GRCh37] Chr11:11q14.3	pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	copy number loss	See cases [RCV000133838]	Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1	pathogenic
GRCh38/hg38 11q14.3(chr11:88744329-89285175)x1	copy number loss	See cases [RCV000134825]	Chr11:88744329..89285175 [GRCh38] Chr11:88477497..89018343 [GRCh37] Chr11:88117145..88657991 [NCBI36] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.902C>T (p.Pro301Leu)	single nucleotide variant	Oculocutaneous albinism type 1 [RCV000186574]\|not provided [RCV002515217]	Chr11:89191284 [GRCh38] Chr11:88924452 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1067A>T (p.Asp356Val)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV002492769]\|not provided [RCV000177047]	Chr11:89227853 [GRCh38] Chr11:88961021 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000195203]\|not provided [RCV002517148]	Chr11:89178399 [GRCh38] Chr11:88911567 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000193486]\|not specified [RCV003317144]	Chr11:89191364 [GRCh38] Chr11:88924532 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|uncertain significance
NM_000372.5(TYR):c.661G>A (p.Glu221Lys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000193793]	Chr11:89178614 [GRCh38] Chr11:88911782 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	single nucleotide variant	Oculocutaneous albinism [RCV000778350]\|Tyrosinase-negative oculocutaneous albinism [RCV000195157]\|not provided [RCV001853121]	Chr11:89227850 [GRCh38] Chr11:88961018 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|uncertain significance
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000192311]\|not provided [RCV000732318]	Chr11:89178611 [GRCh38] Chr11:88911779 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.580del (p.Ile194fs)	deletion	Tyrosinase-negative oculocutaneous albinism [RCV000194340]\|not provided [RCV002517156]	Chr11:89178531 [GRCh38] Chr11:88911699 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000195133]\|not provided [RCV000263031]	Chr11:89284822 [GRCh38] Chr11:89017990 [GRCh37] Chr11:11q14.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.114G>A (p.Pro38=)	single nucleotide variant	Oculocutaneous albinism [RCV001113661]\|not provided [RCV000880635]\|not specified [RCV000251061]	Chr11:89178067 [GRCh38] Chr11:88911235 [GRCh37] Chr11:11q14.3	benign\|likely benign
NM_000372.5(TYR):c.-10T>C	single nucleotide variant	not specified [RCV000246333]	Chr11:89177944 [GRCh38] Chr11:88911112 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.178C>T (p.Leu60=)	single nucleotide variant	Oculocutaneous albinism [RCV001113662]\|not provided [RCV000880636]\|not specified [RCV000245870]	Chr11:89178131 [GRCh38] Chr11:88911299 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.-41A>G	single nucleotide variant	Oculocutaneous albinism [RCV000270512]	Chr11:89177913 [GRCh38] Chr11:88911081 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.194T>C (p.Leu65Pro)	single nucleotide variant	Oculocutaneous albinism [RCV000283397]\|not provided [RCV001859832]	Chr11:89178147 [GRCh38] Chr11:88911315 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.759A>T (p.Gly253=)	single nucleotide variant	not provided [RCV000310160]	Chr11:89178712 [GRCh38] Chr11:88911880 [GRCh37] Chr11:11q14.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.1136G>C (p.Gly379Ala)	single nucleotide variant	not provided [RCV000385593]	Chr11:89227922 [GRCh38] Chr11:88961090 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1037-10dup	duplication	not provided [RCV000389295]	Chr11:89227804..89227805 [GRCh38] Chr11:88960981 [GRCh37] Chr11:11q14.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.504C>T (p.Asn168=)	single nucleotide variant	Oculocutaneous albinism [RCV001113665]\|Tyrosinase-negative oculocutaneous albinism [RCV001590907]\|not provided [RCV000288287]	Chr11:89178457 [GRCh38] Chr11:88911625 [GRCh37] Chr11:11q14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.1446G>C (p.Ala482=)	single nucleotide variant	Oculocutaneous albinism [RCV001111959]\|Tyrosinase-negative oculocutaneous albinism [RCV001785675]\|not provided [RCV000597399]	Chr11:89295222 [GRCh38] Chr11:89028390 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.301_309delinsA (p.Gly101fs)	indel	not provided [RCV003312208]	Chr11:89178254..89178262 [GRCh38] Chr11:88911422..88911430 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.191C>T (p.Pro64Leu)	single nucleotide variant	Oculocutaneous albinism [RCV000384717]	Chr11:89178144 [GRCh38] Chr11:88911312 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.*230G>A	single nucleotide variant	Oculocutaneous albinism [RCV000338841]	Chr11:89295596 [GRCh38] Chr11:89028764 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr)	single nucleotide variant	Oculocutaneous albinism [RCV000300316]	Chr11:89284858 [GRCh38] Chr11:89018026 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.-37G>A	single nucleotide variant	Oculocutaneous albinism [RCV000327979]	Chr11:89177917 [GRCh38] Chr11:88911085 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs)	deletion	not provided [RCV000593927]	Chr11:89295198..89295207 [GRCh38] Chr11:89028366..89028375 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.116G>A (p.Trp39Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001591179]\|not provided [RCV000520545]	Chr11:89178069 [GRCh38] Chr11:88911237 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.239G>A (p.Trp80Ter)	single nucleotide variant	not provided [RCV000599383]	Chr11:89178192 [GRCh38] Chr11:88911360 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.665T>C (p.Ile222Thr)	single nucleotide variant	Oculocutaneous albinism [RCV001109648]\|Tyrosinase-negative oculocutaneous albinism [RCV001591355]\|not provided [RCV000592113]\|not specified [RCV001821726]	Chr11:89178618 [GRCh38] Chr11:88911786 [GRCh37] Chr11:11q14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.74dup (p.Ser26fs)	duplication	Ocular albinism [RCV000414891]\|Tyrosinase-negative oculocutaneous albinism [RCV001198201]\|not provided [RCV001821141]	Chr11:89178026..89178027 [GRCh38] Chr11:88911194..88911195 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1161T>C (p.Leu387=)	single nucleotide variant	Oculocutaneous albinism [RCV001111954]\|Tyrosinase-negative oculocutaneous albinism [RCV001592933]\|not provided [RCV000732306]	Chr11:89227947 [GRCh38] Chr11:88961115 [GRCh37] Chr11:11q14.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.1037-2A>G	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001592934]\|not provided [RCV000732830]	Chr11:89227821 [GRCh38] Chr11:88960989 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr)	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755068]	Chr11:89178176 [GRCh38] Chr11:88911344 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1184+2T>C	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755078]	Chr11:89227972 [GRCh38] Chr11:88961140 [GRCh37] Chr11:11q14.3	likely pathogenic
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1	copy number loss	See cases [RCV000446395]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
NM_000372.5(TYR):c.1037G>T (p.Gly346Val)	single nucleotide variant	Abnormality of the eye [RCV000504775]\|Tyrosinase-negative oculocutaneous albinism [RCV003325487]\|not provided [RCV002524403]	Chr11:89227823 [GRCh38] Chr11:88960991 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)	single nucleotide variant	Albinism [RCV000504932]\|Tyrosinase-negative oculocutaneous albinism [RCV001591148]\|not provided [RCV001531121]	Chr11:89284852 [GRCh38] Chr11:89018020 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	single nucleotide variant	Oculocutaneous albinism type 1B [RCV003338585]\|Tyrosinase-negative oculocutaneous albinism [RCV001591056]\|not provided [RCV000429411]	Chr11:89191358 [GRCh38] Chr11:88924526 [GRCh37] Chr11:11q14.3	pathogenic
GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385)	copy number loss	Abnormal esophagus morphology [RCV000416734]	Chr11:87099219..91921385 [GRCh37] Chr11:11q14.2-14.3	likely benign
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1	copy number loss	See cases [RCV000448436]	Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21	likely pathogenic
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del)	microsatellite	not provided [RCV000478390]	Chr11:89178755..89178757 [GRCh38] Chr11:88911923..88911925 [GRCh37] Chr11:11q14.3	likely pathogenic\|conflicting interpretations of pathogenicity
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	single nucleotide variant	Oculocutaneous albinism [RCV001109651]\|Tyrosinase-negative oculocutaneous albinism [RCV000765023]\|Tyrosinase-negative oculocutaneous albinism [RCV000789027]\|not provided [RCV000486643]	Chr11:89191297 [GRCh38] Chr11:88924465 [GRCh37] Chr11:11q14.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.524T>C (p.Leu175Pro)	single nucleotide variant	not provided [RCV000486330]	Chr11:89178477 [GRCh38] Chr11:88911645 [GRCh37] Chr11:11q14.3	likely pathogenic\|conflicting interpretations of pathogenicity
NM_000372.5(TYR):c.635G>A (p.Arg212Lys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000501190]\|not provided [RCV001857180]	Chr11:89178588 [GRCh38] Chr11:88911756 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)	single nucleotide variant	Oculocutaneous albinism type 1 [RCV001730694]\|Tyrosinase-negative oculocutaneous albinism [RCV000503855]\|not provided [RCV001092183]	Chr11:89191418 [GRCh38] Chr11:88924586 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000501972]\|not provided [RCV001564521]	Chr11:89191262 [GRCh38] Chr11:88924430 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.452T>G (p.Ile151Ser)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000504265]	Chr11:89178405 [GRCh38] Chr11:88911573 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.835T>C (p.Leu279=)	single nucleotide variant	Oculocutaneous albinism [RCV001109650]\|not provided [RCV000956986]\|not specified [RCV000504188]	Chr11:89191217 [GRCh38] Chr11:88924385 [GRCh37] Chr11:11q14.3	benign\|likely benign
NM_000372.5(TYR):c.841G>A (p.Glu281Lys)	single nucleotide variant	not provided [RCV002527305]\|not specified [RCV000499849]	Chr11:89191223 [GRCh38] Chr11:88924391 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.101A>C (p.Glu34Ala)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000502552]	Chr11:89178054 [GRCh38] Chr11:88911222 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000500843]\|not provided [RCV002527304]	Chr11:89178706 [GRCh38] Chr11:88911874 [GRCh37] Chr11:11q14.3	pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	copy number loss	See cases [RCV000510457]	Chr11:88152458..109414650 [GRCh37] Chr11:11q14.2-22.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_000372.5(TYR):c.1413G>A (p.Ala471=)	single nucleotide variant	not provided [RCV000595253]	Chr11:89295189 [GRCh38] Chr11:89028357 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	single nucleotide variant	Albinism [RCV000626674]\|Oculocutaneous albinism type 1B [RCV002289915]\|Tyrosinase-negative oculocutaneous albinism [RCV001197897]\|not provided [RCV001860478]	Chr11:89284940 [GRCh38] Chr11:89018108 [GRCh37] Chr11:11q14.3	likely pathogenic\|uncertain significance
NM_000372.5(TYR):c.1342_1353del (p.Asp448_Tyr451del)	deletion	not provided [RCV000585060]	Chr11:89284925..89284936 [GRCh38] Chr11:89018093..89018104 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1392dup (p.Lys465Ter)	duplication	Tyrosinase-negative oculocutaneous albinism [RCV002497252]\|not provided [RCV000598065]	Chr11:89295166..89295167 [GRCh38] Chr11:89028334..89028335 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.655G>A (p.Glu219Lys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001591180]\|not provided [RCV000521185]	Chr11:89178608 [GRCh38] Chr11:88911776 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.307T>C (p.Cys103Arg)	single nucleotide variant	Oculocutaneous albinism [RCV003317249]\|not provided [RCV000512841]	Chr11:89178260 [GRCh38] Chr11:88911428 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)	single nucleotide variant	Oculocutaneous albinism [RCV001109653]\|Tyrosinase-negative oculocutaneous albinism [RCV000710029]\|not provided [RCV001861949]	Chr11:89191362 [GRCh38] Chr11:88924530 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	pathogenic
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)	indel	Tyrosinase-negative oculocutaneous albinism [RCV000710040]	Chr11:89178340..89178342 [GRCh38] Chr11:88911508..88911510 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1267del (p.Glu423fs)	deletion	Tyrosinase-negative oculocutaneous albinism [RCV000710031]	Chr11:89284853 [GRCh38] Chr11:89018021 [GRCh37] Chr11:11q14.3	pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	copy number loss	Intellectual disability [RCV000721939]	Chr11:81771852..90851187 [GRCh37] Chr11:11q14.1-14.3	pathogenic
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	single nucleotide variant	Abnormality of the skin [RCV001814229]\|Nonsyndromic Oculocutaneous Albinism [RCV000755076]\|Oculocutaneous albinism [RCV002272342]\|Tyrosinase-negative oculocutaneous albinism [RCV000850232]\|not provided [RCV002533774]	Chr11:89227823 [GRCh38] Chr11:88960991 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_000372.5(TYR):c.585G>A (p.Trp195Ter)	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755069]	Chr11:89178538 [GRCh38] Chr11:88911706 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.51T>C (p.Ala17=)	single nucleotide variant	not provided [RCV001730350]\|not specified [RCV001730351]	Chr11:89178004 [GRCh38] Chr11:88911172 [GRCh37] Chr11:11q14.3	benign\|likely benign
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1	copy number loss	not provided [RCV000737595]	Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2	pathogenic
GRCh37/hg19 11q14.3(chr11:88902404-88970556)x1	copy number loss	not provided [RCV000737617]	Chr11:88902404..88970556 [GRCh37] Chr11:11q14.3	benign
GRCh37/hg19 11q14.3(chr11:88964519-88967583)x0	copy number loss	not provided [RCV000737618]	Chr11:88964519..88967583 [GRCh37] Chr11:11q14.3	benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3	copy number gain	not provided [RCV000750120]	Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21	pathogenic
NM_000372.5(TYR):c.164G>C (p.Cys55Ser)	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755067]\|Tyrosinase-negative oculocutaneous albinism [RCV000785610]	Chr11:89178117 [GRCh38] Chr11:88911285 [GRCh37] Chr11:11q14.3	likely pathogenic\|uncertain significance
NM_000372.5(TYR):c.1037-18T>G	single nucleotide variant	Nonsyndromic Oculocutaneous Albinism [RCV000755075]	Chr11:89227805 [GRCh38] Chr11:88960973 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.714G>A (p.Trp238Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000760986]\|not provided [RCV001869037]	Chr11:89178667 [GRCh38] Chr11:88911835 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.174C>G (p.Ile58Met)	single nucleotide variant	not provided [RCV000761796]	Chr11:89178127 [GRCh38] Chr11:88911295 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del)	deletion	Nonsyndromic Oculocutaneous Albinism [RCV000755073]	Chr11:89191323..89191328 [GRCh38] Chr11:88924491..88924496 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.138T>A (p.Cys46Ter)	single nucleotide variant	not provided [RCV000760762]	Chr11:89178091 [GRCh38] Chr11:88911259 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.192A>C (p.Pro64=)	single nucleotide variant	not provided [RCV000922887]	Chr11:89178145 [GRCh38] Chr11:88911313 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1456del (p.Ala486fs)	deletion	Tyrosinase-negative oculocutaneous albinism [RCV000991224]	Chr11:89295229 [GRCh38] Chr11:89028397 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.705T>G (p.Tyr235Ter)	single nucleotide variant	Oculocutaneous albinism [RCV000778347]	Chr11:89178658 [GRCh38] Chr11:88911826 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1275C>T (p.Tyr425=)	single nucleotide variant	not provided [RCV000967859]	Chr11:89284863 [GRCh38] Chr11:89018031 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1110G>A (p.Met370Ile)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000767859]	Chr11:89227896 [GRCh38] Chr11:88961064 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.391_393del (p.Lys131del)	deletion	Oculocutaneous albinism type 1B [RCV001093592]\|Tyrosinase-negative oculocutaneous albinism [RCV001593158]	Chr11:89178342..89178344 [GRCh38] Chr11:88911510..88911512 [GRCh37] Chr11:11q14.3	pathogenic
GRCh37/hg19 11q14.3(chr11:88831336-88934583)x1	copy number loss	not provided [RCV001006430]	Chr11:88831336..88934583 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000851372]	Chr11:89284863 [GRCh38] Chr11:89018031 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.529G>C (p.Val177Leu)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000851371]	Chr11:89178482 [GRCh38] Chr11:88911650 [GRCh37] Chr11:11q14.3	likely pathogenic
GRCh37/hg19 11q14.3(chr11:88947874-89023154)x1	copy number loss	not provided [RCV000849441]	Chr11:88947874..89023154 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000850231]\|not provided [RCV001858466]	Chr11:89178074 [GRCh38] Chr11:88911242 [GRCh37] Chr11:11q14.3	likely pathogenic\|uncertain significance
GRCh37/hg19 11q14.3(chr11:88993686-89059590)x3	copy number gain	not provided [RCV000847561]	Chr11:88993686..89059590 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1065G>A (p.Ala355=)	single nucleotide variant	Oculocutaneous albinism [RCV001111953]\|not provided [RCV002069808]	Chr11:89227851 [GRCh38] Chr11:88961019 [GRCh37] Chr11:11q14.3	benign\|uncertain significance
NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del	deletion	Tyrosinase-negative oculocutaneous albinism [RCV000851374]	Chr11:89178801..89227971 [GRCh38] Chr11:88911969..88961139 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000851373]	Chr11:89284786 [GRCh38] Chr11:89017954 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.157G>T (p.Gly53Cys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV000851370]\|not provided [RCV002533981]	Chr11:89178110 [GRCh38] Chr11:88911278 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NC_000011.9:g.(?_88027174)_(89018142_?)dup	duplication	Haim-Munk syndrome [RCV003107482]	Chr11:88027174..89018142 [GRCh37] Chr11:11q14.2-14.3	uncertain significance
NM_000372.5(TYR):c.930A>G (p.Pro310=)	single nucleotide variant	not provided [RCV003107486]	Chr11:89191312 [GRCh38] Chr11:88924480 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1259A>G (p.His420Arg)	single nucleotide variant	not provided [RCV001555815]	Chr11:89284847 [GRCh38] Chr11:89018015 [GRCh37] Chr11:11q14.3	likely pathogenic\|conflicting interpretations of pathogenicity
NC_000011.10:g.89177653C>T	single nucleotide variant	not provided [RCV001718267]	Chr11:89177653 [GRCh38] Chr11:88910821 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.57T>C (p.His19=)	single nucleotide variant	not provided [RCV000929651]	Chr11:89178010 [GRCh38] Chr11:88911178 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.573A>G (p.Gly191=)	single nucleotide variant	Oculocutaneous albinism [RCV001113666]\|Tyrosinase-negative oculocutaneous albinism [RCV001593155]\|not provided [RCV000967228]	Chr11:89178526 [GRCh38] Chr11:88911694 [GRCh37] Chr11:11q14.3	likely benign\|uncertain significance
NM_000372.5(TYR):c.67G>A (p.Ala23Thr)	single nucleotide variant	Oculocutaneous albinism [RCV001112316]\|not provided [RCV002556192]	Chr11:89178020 [GRCh38] Chr11:88911188 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.627T>C (p.Pro209=)	single nucleotide variant	not provided [RCV000933676]	Chr11:89178580 [GRCh38] Chr11:88911748 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1444G>T (p.Ala482Ser)	single nucleotide variant	not provided [RCV000935163]	Chr11:89295220 [GRCh38] Chr11:89028388 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1130T>C (p.Val377Ala)	single nucleotide variant	not provided [RCV002466966]	Chr11:89227916 [GRCh38] Chr11:88961084 [GRCh37] Chr11:11q14.3	likely pathogenic\|conflicting interpretations of pathogenicity
NM_000372.5(TYR):c.938_939dup (p.Ser314fs)	duplication	not provided [RCV001009246]	Chr11:89191317..89191318 [GRCh38] Chr11:88924485..88924486 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.149C>T (p.Ser50Leu)	single nucleotide variant	not provided [RCV001699988]	Chr11:89178102 [GRCh38] Chr11:88911270 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1037-201G>A	single nucleotide variant	not provided [RCV001639628]	Chr11:89227622 [GRCh38] Chr11:88960790 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.1367-268T>G	single nucleotide variant	not provided [RCV001659315]	Chr11:89294875 [GRCh38] Chr11:89028043 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.1184+161T>G	single nucleotide variant	not provided [RCV001614860]	Chr11:89228131 [GRCh38] Chr11:88961299 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.1214G>A (p.Arg405His)	single nucleotide variant	Inborn genetic diseases [RCV002556184]\|Oculocutaneous albinism [RCV001111955]\|not provided [RCV001856484]	Chr11:89284802 [GRCh38] Chr11:89017970 [GRCh37] Chr11:11q14.3	likely benign\|uncertain significance
NM_000372.5(TYR):c.1396T>G (p.Ser466Ala)	single nucleotide variant	Oculocutaneous albinism [RCV001111958]	Chr11:89295172 [GRCh38] Chr11:89028340 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.454C>T (p.Pro152Ser)	single nucleotide variant	Oculocutaneous albinism [RCV001113663]\|not provided [RCV002069830]\|not specified [RCV001819824]	Chr11:89178407 [GRCh38] Chr11:88911575 [GRCh37] Chr11:11q14.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.833G>A (p.Arg278Gln)	single nucleotide variant	Oculocutaneous albinism [RCV001109649]\|not provided [RCV001856463]	Chr11:89191215 [GRCh38] Chr11:88924383 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.978A>G (p.Gln326=)	single nucleotide variant	Oculocutaneous albinism [RCV001109652]	Chr11:89191360 [GRCh38] Chr11:88924528 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1044T>C (p.Ala348=)	single nucleotide variant	Oculocutaneous albinism [RCV001109654]	Chr11:89227830 [GRCh38] Chr11:88960998 [GRCh37] Chr11:11q14.3	uncertain significance
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	copy number gain	not provided [RCV001006426]	Chr11:84830143..92029933 [GRCh37] Chr11:11q14.1-14.3	pathogenic
NM_000372.5(TYR):c.1037-77T>C	single nucleotide variant	not provided [RCV001680186]	Chr11:89227746 [GRCh38] Chr11:88960914 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.1184+50G>A	single nucleotide variant	not provided [RCV001693809]	Chr11:89228020 [GRCh38] Chr11:88961188 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.1525G>A (p.Glu509Lys)	single nucleotide variant	Oculocutaneous albinism [RCV001112411]	Chr11:89295301 [GRCh38] Chr11:89028469 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.464C>T (p.Thr155Ile)	single nucleotide variant	Oculocutaneous albinism [RCV001113664]\|not provided [RCV001856500]	Chr11:89178417 [GRCh38] Chr11:88911585 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1185-2A>G	single nucleotide variant	Oculocutaneous albinism type 1B [RCV001174526]\|Tyrosinase-negative oculocutaneous albinism [RCV001593159]\|not provided [RCV001858606]	Chr11:89284771 [GRCh38] Chr11:89017939 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala)	single nucleotide variant	Oculocutaneous albinism [RCV001111956]\|not provided [RCV002556185]	Chr11:89284895 [GRCh38] Chr11:89018063 [GRCh37] Chr11:11q14.3	uncertain significance
GRCh37/hg19 11q14.3(chr11:88856788-88947874)x1	copy number loss	not provided [RCV001260143]	Chr11:88856788..88947874 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.659A>G (p.Gln220Arg)	single nucleotide variant	not provided [RCV001870690]	Chr11:89178612 [GRCh38] Chr11:88911780 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1042G>T (p.Ala348Ser)	single nucleotide variant	not provided [RCV001305091]	Chr11:89227828 [GRCh38] Chr11:88960996 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1101C>A (p.His367Gln)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001290267]\|not provided [RCV001871732]	Chr11:89227887 [GRCh38] Chr11:88961055 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.373G>A (p.Asp125Asn)	single nucleotide variant	not provided [RCV001319809]	Chr11:89178326 [GRCh38] Chr11:88911494 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer)	deletion	Oculocutaneous albinism type 1B [RCV001328471]	Chr11:89227842 [GRCh38] Chr11:88961010 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.997G>T (p.Asp333Tyr)	single nucleotide variant	not provided [RCV001311266]	Chr11:89191379 [GRCh38] Chr11:88924547 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs)	microsatellite	Tyrosinase-negative oculocutaneous albinism [RCV001334400]	Chr11:89295330..89295331 [GRCh38] Chr11:89028498..89028499 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1037-175T>C	single nucleotide variant	not provided [RCV001643283]	Chr11:89227648 [GRCh38] Chr11:88960816 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.1277T>C (p.Met426Thr)	single nucleotide variant	not provided [RCV001364055]	Chr11:89284865 [GRCh38] Chr11:89018033 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.855T>A (p.His285Gln)	single nucleotide variant	not provided [RCV001360660]	Chr11:89191237 [GRCh38] Chr11:88924405 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.549G>A (p.Val183=)	single nucleotide variant	not provided [RCV001485014]	Chr11:89178502 [GRCh38] Chr11:88911670 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.132T>A (p.Ser44Arg)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001810042]\|not provided [RCV001377026]	Chr11:89178085 [GRCh38] Chr11:88911253 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.1036+1G>A	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001587463]\|not provided [RCV001531120]	Chr11:89191419 [GRCh38] Chr11:88924587 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.895C>T (p.Arg299Cys)	single nucleotide variant	not provided [RCV001699704]	Chr11:89191277 [GRCh38] Chr11:88924445 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.859dup (p.Ser287fs)	duplication	Tyrosinase-negative oculocutaneous albinism [RCV001730012]	Chr11:89191240..89191241 [GRCh38] Chr11:88924408..88924409 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1037-10_1041del	deletion	not provided [RCV001726853]	Chr11:89227810..89227824 [GRCh38] Chr11:88960978..88960992 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1493del (p.Leu498fs)	deletion	Tyrosinase-negative oculocutaneous albinism [RCV002272787]	Chr11:89295268 [GRCh38] Chr11:89028436 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1237del (p.Glu413fs)	deletion	Oculocutaneous albinism type 1B [RCV002273320]	Chr11:89284825 [GRCh38] Chr11:89017993 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.72T>C (p.Cys24=)	single nucleotide variant	not provided [RCV002104252]	Chr11:89178025 [GRCh38] Chr11:88911193 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.530T>A (p.Val177Asp)	single nucleotide variant	not provided [RCV001783998]	Chr11:89178483 [GRCh38] Chr11:88911651 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys)	single nucleotide variant	not provided [RCV001763537]	Chr11:89295364 [GRCh38] Chr11:89028532 [GRCh37] Chr11:11q14.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.1039T>C (p.Phe347Leu)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001775444]	Chr11:89227825 [GRCh38] Chr11:88960993 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.996G>A (p.Met332Ile)	single nucleotide variant	Abnormality of the skin [RCV001814538]\|Tyrosinase-negative oculocutaneous albinism [RCV002290718]\|not provided [RCV002568934]	Chr11:89191378 [GRCh38] Chr11:88924546 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.864A>T (p.Leu288Phe)	single nucleotide variant	not provided [RCV001732963]	Chr11:89191246 [GRCh38] Chr11:88924414 [GRCh37] Chr11:11q14.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.715C>T (p.Arg239Trp)	single nucleotide variant	not provided [RCV001785103]	Chr11:89178668 [GRCh38] Chr11:88911836 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1213C>T (p.Arg405Cys)	single nucleotide variant	not provided [RCV001761083]	Chr11:89284801 [GRCh38] Chr11:89017969 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.865T>C (p.Cys289Arg)	single nucleotide variant	not provided [RCV001756679]	Chr11:89191247 [GRCh38] Chr11:88924415 [GRCh37] Chr11:11q14.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.221_222del (p.Val74fs)	deletion	not provided [RCV001817746]	Chr11:89178173..89178174 [GRCh38] Chr11:88911341..88911342 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.26T>C (p.Leu9Pro)	single nucleotide variant	not specified [RCV001817775]	Chr11:89177979 [GRCh38] Chr11:88911147 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV002478050]\|not specified [RCV001822284]	Chr11:89295285 [GRCh38] Chr11:89028453 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.290G>T (p.Gly97Val)	single nucleotide variant	not provided [RCV001969826]	Chr11:89178243 [GRCh38] Chr11:88911411 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.606T>G (p.His202Gln)	single nucleotide variant	not provided [RCV001949604]	Chr11:89178559 [GRCh38] Chr11:88911727 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.368T>C (p.Ile123Thr)	single nucleotide variant	not provided [RCV001874000]	Chr11:89178321 [GRCh38] Chr11:88911489 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.754A>G (p.Met252Val)	single nucleotide variant	not provided [RCV002045809]	Chr11:89178707 [GRCh38] Chr11:88911875 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.185A>G (p.Asn62Ser)	single nucleotide variant	not provided [RCV001914887]	Chr11:89178138 [GRCh38] Chr11:88911306 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1319T>C (p.Ile440Thr)	single nucleotide variant	not provided [RCV001988477]	Chr11:89284907 [GRCh38] Chr11:89018075 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.175C>T (p.Leu59Phe)	single nucleotide variant	not provided [RCV002025766]	Chr11:89178128 [GRCh38] Chr11:88911296 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.933G>T (p.Arg311Ser)	single nucleotide variant	not provided [RCV001950076]	Chr11:89191315 [GRCh38] Chr11:88924483 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.842A>G (p.Glu281Gly)	single nucleotide variant	not provided [RCV001915579]	Chr11:89191224 [GRCh38] Chr11:88924392 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.832C>A (p.Arg278=)	single nucleotide variant	not provided [RCV001873123]	Chr11:89191214 [GRCh38] Chr11:88924382 [GRCh37] Chr11:11q14.3	likely benign\|uncertain significance
NM_000372.5(TYR):c.255T>A (p.Tyr85Ter)	single nucleotide variant	not provided [RCV001914922]	Chr11:89178208 [GRCh38] Chr11:88911376 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1171G>A (p.Ala391Thr)	single nucleotide variant	not provided [RCV001963827]	Chr11:89227957 [GRCh38] Chr11:88961125 [GRCh37] Chr11:11q14.3	uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	copy number loss	not provided [RCV001832892]	Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3	uncertain significance
NM_000372.5(TYR):c.1297T>C (p.Tyr433His)	single nucleotide variant	not provided [RCV001926501]	Chr11:89284885 [GRCh38] Chr11:89018053 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.112C>G (p.Pro38Ala)	single nucleotide variant	not provided [RCV002008085]	Chr11:89178065 [GRCh38] Chr11:88911233 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.661G>T (p.Glu221Ter)	single nucleotide variant	not provided [RCV001896157]	Chr11:89178614 [GRCh38] Chr11:88911782 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.98A>C (p.Lys33Thr)	single nucleotide variant	not provided [RCV001889547]	Chr11:89178051 [GRCh38] Chr11:88911219 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.604C>T (p.His202Tyr)	single nucleotide variant	not provided [RCV001968329]	Chr11:89178557 [GRCh38] Chr11:88911725 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.844T>C (p.Tyr282His)	single nucleotide variant	not provided [RCV002004555]	Chr11:89191226 [GRCh38] Chr11:88924394 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.433A>G (p.Ile145Val)	single nucleotide variant	not provided [RCV002005786]	Chr11:89178386 [GRCh38] Chr11:88911554 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.112C>A (p.Pro38Thr)	single nucleotide variant	not provided [RCV001946368]	Chr11:89178065 [GRCh38] Chr11:88911233 [GRCh37] Chr11:11q14.3	uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	copy number loss	not specified [RCV002052940]	Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1	pathogenic
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	copy number loss	not specified [RCV002052941]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)	single nucleotide variant	not provided [RCV001949398]	Chr11:89227892 [GRCh38] Chr11:88961060 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.355G>T (p.Val119Leu)	single nucleotide variant	not provided [RCV001894582]	Chr11:89178308 [GRCh38] Chr11:88911476 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.862_863del (p.Leu288fs)	deletion	not provided [RCV001949396]	Chr11:89191243..89191244 [GRCh38] Chr11:88924411..88924412 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1136G>T (p.Gly379Val)	single nucleotide variant	not provided [RCV001986652]	Chr11:89227922 [GRCh38] Chr11:88961090 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1139C>T (p.Ser380Phe)	single nucleotide variant	not provided [RCV001947234]	Chr11:89227925 [GRCh38] Chr11:88961093 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.760G>A (p.Gly254Ser)	single nucleotide variant	not provided [RCV001984911]	Chr11:89178713 [GRCh38] Chr11:88911881 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.773_774del (p.Thr258fs)	microsatellite	not provided [RCV001948963]	Chr11:89178724..89178725 [GRCh38] Chr11:88911892..88911893 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1306G>T (p.Gly436Cys)	single nucleotide variant	not provided [RCV001948234]	Chr11:89284894 [GRCh38] Chr11:89018062 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.308G>T (p.Cys103Phe)	single nucleotide variant	not provided [RCV001986844]	Chr11:89178261 [GRCh38] Chr11:88911429 [GRCh37] Chr11:11q14.3	likely pathogenic\|conflicting interpretations of pathogenicity
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	copy number loss	not specified [RCV002052942]	Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21	likely pathogenic
NM_000372.5(TYR):c.1276A>G (p.Met426Val)	single nucleotide variant	not provided [RCV002004411]	Chr11:89284864 [GRCh38] Chr11:89018032 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1099C>T (p.His367Tyr)	single nucleotide variant	not provided [RCV002006905]	Chr11:89227885 [GRCh38] Chr11:88961053 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.706T>C (p.Trp236Arg)	single nucleotide variant	not provided [RCV001894868]	Chr11:89178659 [GRCh38] Chr11:88911827 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.23G>A (p.Cys8Tyr)	single nucleotide variant	not provided [RCV002005515]	Chr11:89177976 [GRCh38] Chr11:88911144 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1348A>T (p.Ser450Cys)	single nucleotide variant	not provided [RCV001966081]	Chr11:89284936 [GRCh38] Chr11:89018104 [GRCh37] Chr11:11q14.3	uncertain significance
NC_000011.9:g.(?_88960971)_(88961158_?)del	deletion	not provided [RCV001909105]	Chr11:88960971..88961158 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1202T>C (p.Leu401Pro)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001823428]	Chr11:89284790 [GRCh38] Chr11:89017958 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.157G>C (p.Gly53Arg)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV001823673]\|not provided [RCV001869821]	Chr11:89178110 [GRCh38] Chr11:88911278 [GRCh37] Chr11:11q14.3	likely pathogenic\|uncertain significance
NM_000372.5(TYR):c.216del (p.Val74fs)	deletion	not provided [RCV002037809]	Chr11:89178169 [GRCh38] Chr11:88911337 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.690C>A (p.Asn230Lys)	single nucleotide variant	Inborn genetic diseases [RCV002560749]\|not provided [RCV001944000]	Chr11:89178643 [GRCh38] Chr11:88911811 [GRCh37] Chr11:11q14.3	uncertain significance
NC_000011.9:g.(?_89017921)_(89018142_?)del	deletion	not provided [RCV001962894]	Chr11:89017921..89018142 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.333C>G (p.Asn111Lys)	single nucleotide variant	not provided [RCV001963323]	Chr11:89178286 [GRCh38] Chr11:88911454 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.389A>T (p.Glu130Val)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV002482610]\|not provided [RCV001888561]	Chr11:89178342 [GRCh38] Chr11:88911510 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.730T>G (p.Cys244Gly)	single nucleotide variant	not provided [RCV001887747]	Chr11:89178683 [GRCh38] Chr11:88911851 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.593T>G (p.Ile198Ser)	single nucleotide variant	not provided [RCV002018510]	Chr11:89178546 [GRCh38] Chr11:88911714 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1263C>A (p.Asn421Lys)	single nucleotide variant	not provided [RCV001999582]	Chr11:89284851 [GRCh38] Chr11:89018019 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1324T>C (p.Ser442Pro)	single nucleotide variant	not provided [RCV001918200]	Chr11:89284912 [GRCh38] Chr11:89018080 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.938C>A (p.Pro313His)	single nucleotide variant	not provided [RCV001942424]	Chr11:89191320 [GRCh38] Chr11:88924488 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1033G>A (p.Glu345Lys)	single nucleotide variant	not provided [RCV002016644]	Chr11:89191415 [GRCh38] Chr11:88924583 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.755T>G (p.Met252Arg)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV002226431]\|not provided [RCV001882806]	Chr11:89178708 [GRCh38] Chr11:88911876 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000372.5(TYR):c.893G>A (p.Arg298Gln)	single nucleotide variant	Inborn genetic diseases [RCV003167081]\|not provided [RCV001925397]	Chr11:89191275 [GRCh38] Chr11:88924443 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.247G>A (p.Val83Ile)	single nucleotide variant	not provided [RCV001962164]	Chr11:89178200 [GRCh38] Chr11:88911368 [GRCh37] Chr11:11q14.3	uncertain significance
NC_000011.9:g.(?_88911122)_(89018142_?)del	deletion	not provided [RCV001942112]	Chr11:88911122..89018142 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.236C>G (p.Ser79Trp)	single nucleotide variant	not provided [RCV001982559]	Chr11:89178189 [GRCh38] Chr11:88911357 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1343A>G (p.Asp448Gly)	single nucleotide variant	not provided [RCV002015538]	Chr11:89284931 [GRCh38] Chr11:89018099 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1036G>A (p.Gly346Arg)	single nucleotide variant	not provided [RCV001998294]	Chr11:89191418 [GRCh38] Chr11:88924586 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1366+3A>T	single nucleotide variant	not provided [RCV001937683]	Chr11:89284957 [GRCh38] Chr11:89018125 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.282C>A (p.Asn94Lys)	single nucleotide variant	not provided [RCV001995697]	Chr11:89178235 [GRCh38] Chr11:88911403 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1327A>G (p.Lys443Glu)	single nucleotide variant	not provided [RCV001864780]	Chr11:89284915 [GRCh38] Chr11:89018083 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1366+1G>T	single nucleotide variant	not provided [RCV001897211]	Chr11:89284955 [GRCh38] Chr11:89018123 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.754A>T (p.Met252Leu)	single nucleotide variant	not provided [RCV001869875]	Chr11:89178707 [GRCh38] Chr11:88911875 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.470G>A (p.Gly157Asp)	single nucleotide variant	not provided [RCV001904058]	Chr11:89178423 [GRCh38] Chr11:88911591 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.530T>C (p.Val177Ala)	single nucleotide variant	not provided [RCV001974751]	Chr11:89178483 [GRCh38] Chr11:88911651 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.682G>A (p.Asp228Asn)	single nucleotide variant	not provided [RCV001865091]	Chr11:89178635 [GRCh38] Chr11:88911803 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1027A>G (p.Thr343Ala)	single nucleotide variant	not provided [RCV001952660]	Chr11:89191409 [GRCh38] Chr11:88924577 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.635G>T (p.Arg212Ile)	single nucleotide variant	not provided [RCV001991980]	Chr11:89178588 [GRCh38] Chr11:88911756 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1046G>C (p.Ser349Thr)	single nucleotide variant	not provided [RCV001900188]	Chr11:89227832 [GRCh38] Chr11:88961000 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.750G>C (p.Glu250Asp)	single nucleotide variant	not provided [RCV001989508]	Chr11:89178703 [GRCh38] Chr11:88911871 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.415A>T (p.Thr139Ser)	single nucleotide variant	not provided [RCV001934930]	Chr11:89178368 [GRCh38] Chr11:88911536 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1061T>C (p.Ile354Thr)	single nucleotide variant	not provided [RCV002047979]	Chr11:89227847 [GRCh38] Chr11:88961015 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.708G>C (p.Trp236Cys)	single nucleotide variant	not provided [RCV002020063]	Chr11:89178661 [GRCh38] Chr11:88911829 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.626C>T (p.Pro209Leu)	single nucleotide variant	not provided [RCV001958629]	Chr11:89178579 [GRCh38] Chr11:88911747 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.44C>T (p.Thr15Ile)	single nucleotide variant	not provided [RCV001961475]	Chr11:89177997 [GRCh38] Chr11:88911165 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.547G>A (p.Val183Met)	single nucleotide variant	not provided [RCV001990234]	Chr11:89178500 [GRCh38] Chr11:88911668 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.1036+2T>G	single nucleotide variant	not provided [RCV001956155]	Chr11:89191420 [GRCh38] Chr11:88924588 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.892C>T (p.Arg298Trp)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV002492028]\|not provided [RCV001934284]	Chr11:89191274 [GRCh38] Chr11:88924442 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.656A>C (p.Glu219Ala)	single nucleotide variant	not provided [RCV002017313]	Chr11:89178609 [GRCh38] Chr11:88911777 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.94G>T (p.Glu32Ter)	single nucleotide variant	not provided [RCV001996694]	Chr11:89178047 [GRCh38] Chr11:88911215 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.578A>C (p.Glu193Ala)	single nucleotide variant	not provided [RCV001875700]	Chr11:89178531 [GRCh38] Chr11:88911699 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.113C>T (p.Pro38Leu)	single nucleotide variant	not provided [RCV001883865]	Chr11:89178066 [GRCh38] Chr11:88911234 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.587G>A (p.Arg196Lys)	single nucleotide variant	not provided [RCV001961357]	Chr11:89178540 [GRCh38] Chr11:88911708 [GRCh37] Chr11:11q14.3	uncertain significance
NC_000011.9:g.(?_88960971)_(88961158_?)dup	duplication	not provided [RCV002017901]	Chr11:88960971..88961158 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1184+4G>A	single nucleotide variant	not provided [RCV001906610]	Chr11:89227974 [GRCh38] Chr11:88961142 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.820-3del	deletion	not provided [RCV002019939]	Chr11:89191199 [GRCh38] Chr11:88924367 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys)	single nucleotide variant	not provided [RCV001960618]	Chr11:89284934 [GRCh38] Chr11:89018102 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.493C>A (p.Pro165Thr)	single nucleotide variant	not provided [RCV001996760]	Chr11:89178446 [GRCh38] Chr11:88911614 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.258T>G (p.Asn86Lys)	single nucleotide variant	not provided [RCV001960069]	Chr11:89178211 [GRCh38] Chr11:88911379 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.890dup (p.Leu297fs)	duplication	not provided [RCV001981898]	Chr11:89191269..89191270 [GRCh38] Chr11:88924437..88924438 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1291C>A (p.Pro431Thr)	single nucleotide variant	not provided [RCV001974654]	Chr11:89284879 [GRCh38] Chr11:89018047 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.71G>A (p.Cys24Tyr)	single nucleotide variant	not provided [RCV001917604]	Chr11:89178024 [GRCh38] Chr11:88911192 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1085T>A (p.Met362Lys)	single nucleotide variant	not provided [RCV001991006]	Chr11:89227871 [GRCh38] Chr11:88961039 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.65G>C (p.Arg22Thr)	single nucleotide variant	not provided [RCV002014554]	Chr11:89178018 [GRCh38] Chr11:88911186 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.825_828del (p.Cys276fs)	deletion	not provided [RCV001972488]	Chr11:89191204..89191207 [GRCh38] Chr11:88924372..88924375 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.316G>C (p.Gly106Arg)	single nucleotide variant	not provided [RCV001918188]	Chr11:89178269 [GRCh38] Chr11:88911437 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.913G>A (p.Asp305Asn)	single nucleotide variant	not provided [RCV001936437]	Chr11:89191295 [GRCh38] Chr11:88924463 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1185-17A>G	single nucleotide variant	not provided [RCV002185855]	Chr11:89284756 [GRCh38] Chr11:89017924 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.972G>A (p.Leu324=)	single nucleotide variant	not provided [RCV002084875]	Chr11:89191354 [GRCh38] Chr11:88924522 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1260T>C (p.His420=)	single nucleotide variant	not provided [RCV002149077]	Chr11:89284848 [GRCh38] Chr11:89018016 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.465C>A (p.Thr155=)	single nucleotide variant	not provided [RCV002074828]	Chr11:89178418 [GRCh38] Chr11:88911586 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.483T>C (p.Asn161=)	single nucleotide variant	not provided [RCV002084516]	Chr11:89178436 [GRCh38] Chr11:88911604 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.120C>T (p.Ser40=)	single nucleotide variant	not provided [RCV002113308]	Chr11:89178073 [GRCh38] Chr11:88911241 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1170T>C (p.His390=)	single nucleotide variant	not provided [RCV002106503]	Chr11:89227956 [GRCh38] Chr11:88961124 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1323A>G (p.Ser441=)	single nucleotide variant	not provided [RCV002194632]	Chr11:89284911 [GRCh38] Chr11:89018079 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1037-19A>T	single nucleotide variant	not provided [RCV002150586]	Chr11:89227804 [GRCh38] Chr11:88960972 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1185-19A>G	single nucleotide variant	not provided [RCV002153357]	Chr11:89284754 [GRCh38] Chr11:89017922 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1185-4G>C	single nucleotide variant	not provided [RCV002151782]	Chr11:89284769 [GRCh38] Chr11:89017937 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.825C>T (p.Val275=)	single nucleotide variant	not provided [RCV002195563]	Chr11:89191207 [GRCh38] Chr11:88924375 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.673C>T (p.Leu225=)	single nucleotide variant	not provided [RCV002145677]	Chr11:89178626 [GRCh38] Chr11:88911794 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.180G>A (p.Leu60=)	single nucleotide variant	not provided [RCV002090848]	Chr11:89178133 [GRCh38] Chr11:88911301 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1185-6C>T	single nucleotide variant	not provided [RCV002088371]	Chr11:89284767 [GRCh38] Chr11:89017935 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.819+20C>T	single nucleotide variant	not provided [RCV002150579]	Chr11:89178792 [GRCh38] Chr11:88911960 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1036+19C>T	single nucleotide variant	not provided [RCV002194945]	Chr11:89191437 [GRCh38] Chr11:88924605 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.564G>A (p.Leu188=)	single nucleotide variant	not provided [RCV002134033]	Chr11:89178517 [GRCh38] Chr11:88911685 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.246C>T (p.Ser82=)	single nucleotide variant	not provided [RCV002213563]	Chr11:89178199 [GRCh38] Chr11:88911367 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1184+20T>C	single nucleotide variant	not provided [RCV002131802]	Chr11:89227990 [GRCh38] Chr11:88961158 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.396C>T (p.Asp132=)	single nucleotide variant	not provided [RCV002121032]	Chr11:89178349 [GRCh38] Chr11:88911517 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.570G>A (p.Gly190=)	single nucleotide variant	not provided [RCV002121081]	Chr11:89178523 [GRCh38] Chr11:88911691 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.969T>C (p.Ser323=)	single nucleotide variant	not provided [RCV002158295]	Chr11:89191351 [GRCh38] Chr11:88924519 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.342G>A (p.Glu114=)	single nucleotide variant	not provided [RCV002122377]	Chr11:89178295 [GRCh38] Chr11:88911463 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1037-18T>C	single nucleotide variant	not provided [RCV002118834]	Chr11:89227805 [GRCh38] Chr11:88960973 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.558T>C (p.Asp186=)	single nucleotide variant	not provided [RCV002199684]	Chr11:89178511 [GRCh38] Chr11:88911679 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.273C>T (p.Cys91=)	single nucleotide variant	not provided [RCV002204319]	Chr11:89178226 [GRCh38] Chr11:88911394 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.48C>T (p.Ser16=)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV002494251]\|not provided [RCV002117466]	Chr11:89178001 [GRCh38] Chr11:88911169 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.705T>C (p.Tyr235=)	single nucleotide variant	not provided [RCV002101960]	Chr11:89178658 [GRCh38] Chr11:88911826 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.237G>A (p.Ser79=)	single nucleotide variant	not provided [RCV002180780]	Chr11:89178190 [GRCh38] Chr11:88911358 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.699T>C (p.Ile233=)	single nucleotide variant	not provided [RCV002175778]	Chr11:89178652 [GRCh38] Chr11:88911820 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.795A>C (p.Pro265=)	single nucleotide variant	not provided [RCV002217263]	Chr11:89178748 [GRCh38] Chr11:88911916 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1036+13T>A	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV002505851]\|not provided [RCV002176460]	Chr11:89191431 [GRCh38] Chr11:88924599 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1269A>G (p.Glu423=)	single nucleotide variant	not provided [RCV002176435]	Chr11:89284857 [GRCh38] Chr11:89018025 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.75C>A (p.Val25=)	single nucleotide variant	not provided [RCV002155750]	Chr11:89178028 [GRCh38] Chr11:88911196 [GRCh37] Chr11:11q14.3	likely benign
NC_000011.9:g.(?_88924350)_(88924606_?)del	deletion	not provided [RCV003111114]	Chr11:88924350..88924606 [GRCh37] Chr11:11q14.3	pathogenic
NC_000011.9:g.(?_89017921)_(89018142_?)dup	duplication	not provided [RCV003111115]	Chr11:89017921..89018142 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.255T>C (p.Tyr85=)	single nucleotide variant	not provided [RCV003114949]	Chr11:89178208 [GRCh38] Chr11:88911376 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.736A>T (p.Ile246Phe)	single nucleotide variant	not provided [RCV002262364]	Chr11:89178689 [GRCh38] Chr11:88911857 [GRCh37] Chr11:11q14.3	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_000372.5(TYR):c.1424G>T (p.Trp475Leu)	single nucleotide variant	Inborn genetic diseases [RCV002749834]	Chr11:89295200 [GRCh38] Chr11:89028368 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.867C>T (p.Cys289=)	single nucleotide variant	not provided [RCV002967886]	Chr11:89191249 [GRCh38] Chr11:88924417 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.129G>A (p.Arg43=)	single nucleotide variant	not provided [RCV002995514]	Chr11:89178082 [GRCh38] Chr11:88911250 [GRCh37] Chr11:11q14.3	likely benign
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	copy number loss	not provided [RCV002475722]	Chr11:81478509..104667040 [GRCh37] Chr11:11q14.1-22.3	pathogenic
NM_000372.5(TYR):c.841G>T (p.Glu281Ter)	single nucleotide variant	not provided [RCV002731241]	Chr11:89191223 [GRCh38] Chr11:88924391 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.891A>T (p.Leu297Phe)	single nucleotide variant	not provided [RCV002858452]	Chr11:89191273 [GRCh38] Chr11:88924441 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.11C>T (p.Ala4Val)	single nucleotide variant	not provided [RCV003033827]	Chr11:89177964 [GRCh38] Chr11:88911132 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.359G>A (p.Arg120Lys)	single nucleotide variant	not provided [RCV003017562]	Chr11:89178312 [GRCh38] Chr11:88911480 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.767A>G (p.His256Arg)	single nucleotide variant	not provided [RCV002755943]	Chr11:89178720 [GRCh38] Chr11:88911888 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.127A>G (p.Arg43Gly)	single nucleotide variant	Inborn genetic diseases [RCV002728620]	Chr11:89178080 [GRCh38] Chr11:88911248 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.876G>A (p.Thr292=)	single nucleotide variant	not provided [RCV002971655]	Chr11:89191258 [GRCh38] Chr11:88924426 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.681A>G (p.Gly227=)	single nucleotide variant	not provided [RCV003013808]	Chr11:89178634 [GRCh38] Chr11:88911802 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.437G>A (p.Ser146Asn)	single nucleotide variant	not provided [RCV002861377]	Chr11:89178390 [GRCh38] Chr11:88911558 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.543T>C (p.Tyr181=)	single nucleotide variant	not provided [RCV002795287]	Chr11:89178496 [GRCh38] Chr11:88911664 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.96G>A (p.Glu32=)	single nucleotide variant	not provided [RCV002780427]	Chr11:89178049 [GRCh38] Chr11:88911217 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1121T>C (p.Met374Thr)	single nucleotide variant	not provided [RCV002618959]	Chr11:89227907 [GRCh38] Chr11:88961075 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1037-3C>G	single nucleotide variant	not provided [RCV003037427]	Chr11:89227820 [GRCh38] Chr11:88960988 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.455C>A (p.Pro152His)	single nucleotide variant	not provided [RCV003037424]	Chr11:89178408 [GRCh38] Chr11:88911576 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.463A>T (p.Thr155Ser)	single nucleotide variant	not provided [RCV003037425]	Chr11:89178416 [GRCh38] Chr11:88911584 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1037-11_1037-10del	deletion	not provided [RCV003037426]	Chr11:89227805..89227806 [GRCh38] Chr11:88960973..88960974 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.505G>A (p.Asp169Asn)	single nucleotide variant	not provided [RCV002740042]	Chr11:89178458 [GRCh38] Chr11:88911626 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.877C>A (p.Pro293Thr)	single nucleotide variant	not provided [RCV003000110]	Chr11:89191259 [GRCh38] Chr11:88924427 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.926C>A (p.Thr309Asn)	single nucleotide variant	Inborn genetic diseases [RCV002822385]	Chr11:89191308 [GRCh38] Chr11:88924476 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.818_819+1delinsTTT	indel	not provided [RCV003037931]	Chr11:89178771..89178773 [GRCh38] Chr11:88911939..88911941 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.947C>A (p.Ala316Asp)	single nucleotide variant	not provided [RCV002621381]	Chr11:89191329 [GRCh38] Chr11:88924497 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.126C>T (p.Asp42=)	single nucleotide variant	not provided [RCV002867739]	Chr11:89178079 [GRCh38] Chr11:88911247 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1037-3C>T	single nucleotide variant	not provided [RCV002870971]	Chr11:89227820 [GRCh38] Chr11:88960988 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1141_1160del (p.Ala381fs)	deletion	not provided [RCV003059158]	Chr11:89227925..89227944 [GRCh38] Chr11:88961093..88961112 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.631C>T (p.His211Tyr)	single nucleotide variant	not provided [RCV003025731]	Chr11:89178584 [GRCh38] Chr11:88911752 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.745G>C (p.Asp249His)	single nucleotide variant	not provided [RCV002890490]	Chr11:89178698 [GRCh38] Chr11:88911866 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1191T>C (p.Phe397=)	single nucleotide variant	not provided [RCV002666659]	Chr11:89284779 [GRCh38] Chr11:89017947 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.492A>G (p.Thr164=)	single nucleotide variant	not provided [RCV003007458]	Chr11:89178445 [GRCh38] Chr11:88911613 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.229C>G (p.Arg77Gly)	single nucleotide variant	not provided [RCV003058348]	Chr11:89178182 [GRCh38] Chr11:88911350 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.967A>C (p.Ser323Arg)	single nucleotide variant	not provided [RCV002801642]	Chr11:89191349 [GRCh38] Chr11:88924517 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.262A>T (p.Thr88Ser)	single nucleotide variant	not provided [RCV002643810]	Chr11:89178215 [GRCh38] Chr11:88911383 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.881A>T (p.Glu294Val)	single nucleotide variant	not provided [RCV002828634]	Chr11:89191263 [GRCh38] Chr11:88924431 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1340A>G (p.Tyr447Cys)	single nucleotide variant	not provided [RCV003041085]	Chr11:89284928 [GRCh38] Chr11:89018096 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.820-6G>A	single nucleotide variant	not provided [RCV003041570]	Chr11:89191196 [GRCh38] Chr11:88924364 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.258T>C (p.Asn86=)	single nucleotide variant	not provided [RCV002851311]	Chr11:89178211 [GRCh38] Chr11:88911379 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.819+12_819+20del	deletion	not provided [RCV002765547]	Chr11:89178783..89178791 [GRCh38] Chr11:88911951..88911959 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.605A>G (p.His202Arg)	single nucleotide variant	not provided [RCV003058349]	Chr11:89178558 [GRCh38] Chr11:88911726 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.271T>C (p.Cys91Arg)	single nucleotide variant	not provided [RCV002801757]	Chr11:89178224 [GRCh38] Chr11:88911392 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1185T>C (p.Ser395=)	single nucleotide variant	not provided [RCV002594454]	Chr11:89284773 [GRCh38] Chr11:89017941 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.384C>A (p.Ala128=)	single nucleotide variant	not provided [RCV002666629]	Chr11:89178337 [GRCh38] Chr11:88911505 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1279G>A (p.Val427Ile)	single nucleotide variant	Inborn genetic diseases [RCV002699651]	Chr11:89284867 [GRCh38] Chr11:89018035 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.398A>C (p.Lys133Thr)	single nucleotide variant	not provided [RCV003040597]	Chr11:89178351 [GRCh38] Chr11:88911519 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.684T>C (p.Asp228=)	single nucleotide variant	not provided [RCV002701271]	Chr11:89178637 [GRCh38] Chr11:88911805 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.704A>G (p.Tyr235Cys)	single nucleotide variant	not provided [RCV002829245]	Chr11:89178657 [GRCh38] Chr11:88911825 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1064C>G (p.Ala355Gly)	single nucleotide variant	not provided [RCV002805354]	Chr11:89227850 [GRCh38] Chr11:88961018 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.522C>T (p.Asp174=)	single nucleotide variant	not provided [RCV003056931]	Chr11:89178475 [GRCh38] Chr11:88911643 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1337G>A (p.Gly446Asp)	single nucleotide variant	not provided [RCV002770560]	Chr11:89284925 [GRCh38] Chr11:89018093 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1356A>G (p.Leu452=)	single nucleotide variant	not provided [RCV002967125]	Chr11:89284944 [GRCh38] Chr11:89018112 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.74T>C (p.Val25Ala)	single nucleotide variant	not provided [RCV003044103]	Chr11:89178027 [GRCh38] Chr11:88911195 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.542A>T (p.Tyr181Phe)	single nucleotide variant	not provided [RCV003049025]	Chr11:89178495 [GRCh38] Chr11:88911663 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1028C>T (p.Thr343Ile)	single nucleotide variant	not provided [RCV003046983]	Chr11:89191410 [GRCh38] Chr11:88924578 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1016G>T (p.Ser339Ile)	single nucleotide variant	not provided [RCV002938935]	Chr11:89191398 [GRCh38] Chr11:88924566 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.561A>C (p.Ala187=)	single nucleotide variant	not provided [RCV002577696]	Chr11:89178514 [GRCh38] Chr11:88911682 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1245T>C (p.Asn415=)	single nucleotide variant	not provided [RCV002856691]	Chr11:89284833 [GRCh38] Chr11:89018001 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.246C>A (p.Ser82=)	single nucleotide variant	not provided [RCV003045284]	Chr11:89178199 [GRCh38] Chr11:88911367 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.134C>T (p.Pro45Leu)	single nucleotide variant	not provided [RCV002579132]	Chr11:89178087 [GRCh38] Chr11:88911255 [GRCh37] Chr11:11q14.3	benign
NM_000372.5(TYR):c.446A>C (p.Tyr149Ser)	single nucleotide variant	not provided [RCV002576635]	Chr11:89178399 [GRCh38] Chr11:88911567 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.950A>G (p.Asp317Gly)	single nucleotide variant	not provided [RCV002770239]	Chr11:89191332 [GRCh38] Chr11:88924500 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.87C>A (p.Asn29Lys)	single nucleotide variant	not provided [RCV003062440]	Chr11:89178040 [GRCh38] Chr11:88911208 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.155G>C (p.Arg52Thr)	single nucleotide variant	not provided [RCV003062442]	Chr11:89178108 [GRCh38] Chr11:88911276 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.266G>A (p.Cys89Tyr)	single nucleotide variant	not provided [RCV003062443]	Chr11:89178219 [GRCh38] Chr11:88911387 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.721G>A (p.Ala241Thr)	single nucleotide variant	not provided [RCV003062446]	Chr11:89178674 [GRCh38] Chr11:88911842 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.667C>T (p.Gln223Ter)	single nucleotide variant	not provided [RCV002807140]	Chr11:89178620 [GRCh38] Chr11:88911788 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.153C>A (p.Gly51=)	single nucleotide variant	not provided [RCV002937749]	Chr11:89178106 [GRCh38] Chr11:88911274 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.525C>G (p.Leu175=)	single nucleotide variant	not provided [RCV002770818]	Chr11:89178478 [GRCh38] Chr11:88911646 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.124G>A (p.Asp42Asn)	single nucleotide variant	not provided [RCV003062441]	Chr11:89178077 [GRCh38] Chr11:88911245 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.886C>T (p.Pro296Ser)	single nucleotide variant	not provided [RCV002670963]	Chr11:89191268 [GRCh38] Chr11:88924436 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.537G>T (p.Met179Ile)	single nucleotide variant	not provided [RCV002598473]	Chr11:89178490 [GRCh38] Chr11:88911658 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.133C>T (p.Pro45Ser)	single nucleotide variant	not provided [RCV003048421]	Chr11:89178086 [GRCh38] Chr11:88911254 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1251C>T (p.Pro417=)	single nucleotide variant	not provided [RCV003029371]	Chr11:89284839 [GRCh38] Chr11:89018007 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.593T>C (p.Ile198Thr)	single nucleotide variant	not provided [RCV003062444]	Chr11:89178546 [GRCh38] Chr11:88911714 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.863T>C (p.Leu288Ser)	single nucleotide variant	not provided [RCV003062447]	Chr11:89191245 [GRCh38] Chr11:88924413 [GRCh37] Chr11:11q14.3	pathogenic\|likely pathogenic
NM_000372.5(TYR):c.1366+1G>A	single nucleotide variant	not provided [RCV003062448]	Chr11:89284955 [GRCh38] Chr11:89018123 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.876G>T (p.Thr292=)	single nucleotide variant	not provided [RCV002806621]	Chr11:89191258 [GRCh38] Chr11:88924426 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.888T>C (p.Pro296=)	single nucleotide variant	not provided [RCV002646618]	Chr11:89191270 [GRCh38] Chr11:88924438 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.1223A>T (p.Gln408Leu)	single nucleotide variant	not provided [RCV002720222]	Chr11:89284811 [GRCh38] Chr11:89017979 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.455C>G (p.Pro152Arg)	single nucleotide variant	not provided [RCV003044632]	Chr11:89178408 [GRCh38] Chr11:88911576 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.651G>A (p.Arg217=)	single nucleotide variant	not provided [RCV002938814]	Chr11:89178604 [GRCh38] Chr11:88911772 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.680G>A (p.Gly227Glu)	single nucleotide variant	not provided [RCV002792147]	Chr11:89178633 [GRCh38] Chr11:88911801 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1129G>T (p.Val377Leu)	single nucleotide variant	not provided [RCV002582629]	Chr11:89227915 [GRCh38] Chr11:88961083 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.435C>T (p.Ile145=)	single nucleotide variant	not provided [RCV002605112]	Chr11:89178388 [GRCh38] Chr11:88911556 [GRCh37] Chr11:11q14.3	likely benign
NM_000372.5(TYR):c.461G>A (p.Gly154Glu)	single nucleotide variant	not provided [RCV002607905]	Chr11:89178414 [GRCh38] Chr11:88911582 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1357C>A (p.Gln453Lys)	single nucleotide variant	not provided [RCV002608871]	Chr11:89284945 [GRCh38] Chr11:89018113 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.580A>G (p.Ile194Val)	single nucleotide variant	not provided [RCV002635860]	Chr11:89178533 [GRCh38] Chr11:88911701 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1216C>G (p.Pro406Ala)	single nucleotide variant	not provided [RCV002654280]	Chr11:89284804 [GRCh38] Chr11:89017972 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.119G>A (p.Ser40Asn)	single nucleotide variant	Inborn genetic diseases [RCV003308151]\|not provided [RCV002588879]	Chr11:89178072 [GRCh38] Chr11:88911240 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.437G>T (p.Ser146Ile)	single nucleotide variant	not provided [RCV002605223]	Chr11:89178390 [GRCh38] Chr11:88911558 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser)	single nucleotide variant	not specified [RCV003155789]	Chr11:89295155 [GRCh38] Chr11:89028323 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.820-21A>G	single nucleotide variant	not provided [RCV003222738]	Chr11:89191181 [GRCh38] Chr11:88924349 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1114G>A (p.Gly372Arg)	single nucleotide variant	not provided [RCV003139204]	Chr11:89227900 [GRCh38] Chr11:88961068 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.797CAT[1] (p.Ser267del)	microsatellite	not provided [RCV003139205]	Chr11:89178750..89178752 [GRCh38] Chr11:88911918..88911920 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.1309G>A (p.Asp437Asn)	single nucleotide variant	not provided [RCV003139206]	Chr11:89284897 [GRCh38] Chr11:89018065 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.158G>T (p.Gly53Val)	single nucleotide variant	not provided [RCV003133063]	Chr11:89178111 [GRCh38] Chr11:88911279 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1322del (p.Ser441fs)	deletion	Oculocutaneous albinism type 1B [RCV003228193]	Chr11:89284910 [GRCh38] Chr11:89018078 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.826T>C (p.Cys276Arg)	single nucleotide variant	Oculocutaneous albinism [RCV003324356]	Chr11:89191208 [GRCh38] Chr11:88924376 [GRCh37] Chr11:11q14.3	pathogenic
NM_000372.5(TYR):c.1185-6208A>G	single nucleotide variant	not provided [RCV003326843]	Chr11:89278565 [GRCh38] Chr11:89011733 [GRCh37] Chr11:11q14.3	uncertain significance
NM_000372.5(TYR):c.833G>T (p.Arg278Leu)	single nucleotide variant	not provided [RCV003326842]	Chr11:89191215 [GRCh38] Chr11:88924383 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.614C>T (p.Pro205Leu)	single nucleotide variant	not provided [RCV003326841]	Chr11:89178567 [GRCh38] Chr11:88911735 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1109T>A (p.Met370Lys)	single nucleotide variant	Tyrosinase-negative oculocutaneous albinism [RCV003330206]	Chr11:89227895 [GRCh38] Chr11:88961063 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.97A>G (p.Lys33Glu)	single nucleotide variant	Oculocutaneous albinism type 1B [RCV003326034]	Chr11:89178050 [GRCh38] Chr11:88911218 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.163T>C (p.Cys55Arg)	single nucleotide variant	not provided [RCV003326840]	Chr11:89178116 [GRCh38] Chr11:88911284 [GRCh37] Chr11:11q14.3	likely pathogenic
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys)	single nucleotide variant	not specified [RCV003332003]	Chr11:89191408 [GRCh38] Chr11:88924576 [GRCh37] Chr11:11q14.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	342
Count of miRNA genes:	291
Interacting mature miRNAs:	302
Transcripts:	ENST00000263321, ENST00000526139, ENST00000528243
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

RH40020

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	89,023,240 - 89,023,414	UniSTS	GRCh37
GRCh37	11	49,431,855 - 49,432,029	UniSTS	GRCh37
Build 36	11	49,388,431 - 49,388,605	RGD	NCBI36
Celera	11	85,608,522 - 85,608,696	UniSTS
Celera	11	49,582,340 - 49,582,514	RGD
Cytogenetic Map	11	q14-q21	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
HuRef	11	85,260,175 - 85,260,349	UniSTS
HuRef	11	49,149,584 - 49,149,758	UniSTS

RH40016

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,996,344 - 88,996,564	UniSTS	GRCh37
GRCh37	11	49,459,960 - 49,460,179	UniSTS	GRCh37
Build 36	11	49,416,536 - 49,416,755	RGD	NCBI36
Celera	11	49,610,443 - 49,610,662	RGD
Celera	11	85,635,373 - 85,635,593	UniSTS
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,233,276 - 85,233,496	UniSTS
HuRef	11	49,177,690 - 49,177,909	UniSTS

GDB:176315

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,911,302 - 88,911,658	UniSTS	GRCh37
Build 36	11	88,550,950 - 88,551,306	RGD	NCBI36
Celera	11	85,720,292 - 85,720,648	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,151,718 - 85,152,074	UniSTS

GDB:177333

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,911,429 - 88,911,940	UniSTS	GRCh37
Build 36	11	88,551,077 - 88,551,588	RGD	NCBI36
Celera	11	85,720,010 - 85,720,521	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,151,845 - 85,152,356	UniSTS

GDB:177754

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,924,370 - 88,924,586	UniSTS	GRCh37
Build 36	11	88,564,018 - 88,564,234	RGD	NCBI36
Celera	11	85,707,364 - 85,707,580	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,164,808 - 85,165,024	UniSTS

GDB:181433

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,910,149 - 88,911,121	UniSTS	GRCh37
Build 36	11	88,549,797 - 88,550,769	RGD	NCBI36
Celera	11	85,720,829 - 85,721,801	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,150,556 - 85,151,537	UniSTS

GDB:186844

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,910,157 - 88,910,450	UniSTS	GRCh37
Build 36	11	88,549,805 - 88,550,098	RGD	NCBI36
Cytogenetic Map	11	q14-q21	UniSTS

GDB:197911

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,911,072 - 88,911,578	UniSTS	GRCh37
Build 36	11	88,550,720 - 88,551,226	RGD	NCBI36
Celera	11	85,720,372 - 85,720,878	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,151,488 - 85,151,994	UniSTS

GDB:320031

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,911,122 - 88,911,428	UniSTS	GRCh37
Build 36	11	88,550,770 - 88,551,076	RGD	NCBI36
Celera	11	85,720,522 - 85,720,828	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,151,538 - 85,151,844	UniSTS

GDB:635861

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,910,741 - 88,911,119	UniSTS	GRCh37
Build 36	11	88,550,389 - 88,550,767	RGD	NCBI36
Celera	11	85,720,831 - 85,721,209	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,151,157 - 85,151,535	UniSTS

D11S2042

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,930,299 - 88,930,505	UniSTS	GRCh37
GRCh37	11	88,930,281 - 88,930,504	UniSTS	GRCh37
Build 36	11	88,569,947 - 88,570,153	RGD	NCBI36
Celera	11	85,701,446 - 85,701,669	UniSTS
Celera	11	85,701,445 - 85,701,651	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,170,727 - 85,170,933	UniSTS
HuRef	11	85,170,709 - 85,170,932	UniSTS
Stanford-G3 RH Map	11	3930.0	UniSTS

PMC125271P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,910,721 - 88,911,104	UniSTS	GRCh37
Build 36	11	88,550,369 - 88,550,752	RGD	NCBI36
Celera	11	85,720,846 - 85,721,229	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,151,137 - 85,151,520	UniSTS

RH69108

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	89,028,358 - 89,028,521	UniSTS	GRCh37
GRCh37	11	49,426,656 - 49,426,819	UniSTS	GRCh37
Build 36	11	49,383,232 - 49,383,395	RGD	NCBI36
Celera	11	49,577,157 - 49,577,320	RGD
Celera	11	85,603,419 - 85,603,582	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	11	q14-q21	UniSTS
Cytogenetic Map	11	p11.12	UniSTS
HuRef	11	85,265,296 - 85,265,459	UniSTS
HuRef	11	49,144,402 - 49,144,565	UniSTS
GeneMap99-GB4 RH Map	1	295.89	UniSTS
NCBI RH Map	1	711.9	UniSTS

TYR

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,911,494 - 88,911,688	UniSTS	GRCh37
GRCh37	11	88,911,950 - 88,912,075	UniSTS	GRCh37
GRCh37	11	88,924,377 - 88,924,586	UniSTS	GRCh37
Build 36	11	88,551,142 - 88,551,336	RGD	NCBI36
Celera	11	85,720,262 - 85,720,456	RGD
Celera	11	85,719,875 - 85,720,000	UniSTS
Celera	11	85,707,364 - 85,707,573	UniSTS
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,151,910 - 85,152,104	UniSTS
HuRef	11	85,152,366 - 85,152,491	UniSTS
HuRef	11	85,164,815 - 85,165,024	UniSTS
GeneMap99-GB4 RH Map	11	302.68	UniSTS
NCBI RH Map	11	755.0	UniSTS

D11S3987

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	89,028,596 - 89,028,711	UniSTS	GRCh37
GRCh37	11	49,426,466 - 49,426,581	UniSTS	GRCh37
Build 36	11	49,383,042 - 49,383,157	RGD	NCBI36
Celera	11	49,576,967 - 49,577,082	RGD
Celera	11	85,603,229 - 85,603,344	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	11	q14-q21	UniSTS
Cytogenetic Map	11	p11.12	UniSTS
HuRef	11	85,265,534 - 85,265,649	UniSTS
HuRef	11	49,144,212 - 49,144,327	UniSTS
TNG Radiation Hybrid Map	11	41020.0	UniSTS
GeneMap99-GB4 RH Map	11	309.31	UniSTS
Whitehead-RH Map	11	403.9	UniSTS

G15819

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,927,715 - 88,927,969	UniSTS	GRCh37
Build 36	11	88,567,363 - 88,567,617	RGD	NCBI36
Celera	11	85,703,981 - 85,704,235	RGD
Cytogenetic Map	11	q14-q21	UniSTS
HuRef	11	85,168,151 - 85,168,405	UniSTS

D11S870-D11S1326

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	49,412,394 - 49,412,534	UniSTS	GRCh37
GRCh37	11	89,042,274 - 89,042,436	UniSTS	GRCh37
GRCh37	11	49,428,664 - 49,428,834	UniSTS	GRCh37
GRCh37	11	89,026,429 - 89,026,617	UniSTS	GRCh37
Build 36	11	49,368,970 - 49,369,110	RGD	NCBI36
Celera	11	85,589,500 - 85,589,662	UniSTS
Celera	11	49,579,149 - 49,579,319	UniSTS
Celera	11	85,605,323 - 85,605,507	UniSTS
Celera	11	49,563,233 - 49,563,373	RGD
HuRef	11	49,130,472 - 49,130,612	UniSTS
HuRef	11	85,263,373 - 85,263,555	UniSTS
HuRef	11	49,146,394 - 49,146,564	UniSTS
HuRef	11	85,279,215 - 85,279,379	UniSTS

MARC_31609-31610:1062097014:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	88,911,199 - 88,911,883	UniSTS	GRCh37
Build 36	11	88,550,847 - 88,551,531	RGD	NCBI36
Celera	11	85,720,067 - 85,720,751	RGD
HuRef	11	85,151,615 - 85,152,299	UniSTS

TYR_3880

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	49,426,227 - 49,426,843	UniSTS	GRCh37
GRCh37	11	89,028,334 - 89,028,947	UniSTS	GRCh37
Build 36	11	49,382,803 - 49,383,419	RGD	NCBI36
Celera	11	49,576,728 - 49,577,344	RGD
Celera	11	85,602,993 - 85,603,606	UniSTS
HuRef	11	85,265,272 - 85,265,885	UniSTS
HuRef	11	49,143,973 - 49,144,589	UniSTS

D11S2042

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	q14-q21	UniSTS

D11S870-D11S1326

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	q14-q21	UniSTS
Cytogenetic Map	11	p11.2	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

High

Medium

457

233

Low

925

463

Below cutoff

574

1554

360

135

177

1564

580

1071

167

625

397

104

609

1109

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008748	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000372	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011542970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054369815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB775899	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB775900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB775901	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH003020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH010252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000720	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY012019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU736025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675247	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675249	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675250	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675251	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675253	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675278	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675281	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675286	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675290	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675293	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675295	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675296	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675297	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675298	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675299	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675302	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675303	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675311	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675314	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675316	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675317	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675324	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675340	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675344	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675345	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675348	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF675361	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM757520	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	J03581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC201459	(Get FASTA)	NCBI Sequence Viewer

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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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