TYR (tyrosinase) - Rat Genome Database

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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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: TYRL  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381189,177,875 - 89,295,759 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1189,177,875 - 89,295,759 (+)EnsemblGRCh38hg38GRCh38
GRCh371188,911,043 - 89,028,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361188,550,688 - 88,668,575 (+)NCBINCBI36Build 36hg18NCBI36
Build 341188,550,687 - 88,668,474NCBI
Celera1185,603,013 - 85,720,910 (-)NCBICelera
Cytogenetic Map11q14.3NCBI
HuRef1185,151,456 - 85,265,865 (+)NCBIHuRef
CHM1_11188,794,044 - 88,911,928 (+)NCBICHM1_1
T2T-CHM13v2.01189,097,534 - 89,215,415 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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)
2-palmitoylglycerol  (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)
Alisol B  (ISO)
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)
cordycepin  (ISO)
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)
glabridin  (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)
pifithrin-?  (EXP)
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

Cellular Component

Molecular Function

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 circulating hepatic transaminase concentration  (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  
PMID:18296661   PMID:18326704   PMID:18337837   PMID:18390556   PMID:18425346   PMID:18457359   PMID:18463683   PMID:18478240   PMID:18488027   PMID:18563784   PMID:18636124   PMID:18676680  
PMID:18701257   PMID:18791269   PMID:18821858   PMID:18845991   PMID:19060277   PMID:19170196   PMID:19208379   PMID:19320745   PMID:19336006   PMID:19340012   PMID:19342661   PMID:19360691  
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   PMID:38007394   PMID:38145795  
PMID:38275092   PMID:38496616  


Genomics

Comparative Map Data
TYR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381189,177,875 - 89,295,759 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1189,177,875 - 89,295,759 (+)EnsemblGRCh38hg38GRCh38
GRCh371188,911,043 - 89,028,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361188,550,688 - 88,668,575 (+)NCBINCBI36Build 36hg18NCBI36
Build 341188,550,687 - 88,668,474NCBI
Celera1185,603,013 - 85,720,910 (-)NCBICelera
Cytogenetic Map11q14.3NCBI
HuRef1185,151,456 - 85,265,865 (+)NCBIHuRef
CHM1_11188,794,044 - 88,911,928 (+)NCBICHM1_1
T2T-CHM13v2.01189,097,534 - 89,215,415 (+)NCBIT2T-CHM13v2.0
Tyr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39787,073,979 - 87,142,637 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl787,073,979 - 87,142,720 (-)EnsemblGRCm39 Ensembl
GRCm38787,424,771 - 87,493,512 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl787,424,771 - 87,493,512 (-)EnsemblGRCm38mm10GRCm38
MGSCv37794,575,915 - 94,641,921 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36787,303,166 - 87,369,172 (-)NCBIMGSCv36mm8
Celera784,786,868 - 84,854,808 (-)NCBICelera
Cytogenetic Map7D3NCBI
cM Map749.01NCBI
Tyr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81150,527,687 - 150,622,857 (-)NCBIGRCr8
mRatBN7.21141,115,036 - 141,210,207 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1141,115,036 - 141,210,207 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1149,090,247 - 149,179,011 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01156,260,901 - 156,349,657 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01149,134,804 - 149,223,566 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01151,012,598 - 151,106,802 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1151,012,598 - 151,106,802 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01157,322,968 - 157,416,594 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41143,641,257 - 143,746,315 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1139,445,261 - 139,532,999 (-)NCBICelera
Cytogenetic Map1q32NCBI
Tyr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554144,244,035 - 4,314,001 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554144,244,035 - 4,314,001 (-)NCBIChiLan1.0ChiLan1.0
TYR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2990,055,036 - 90,172,775 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11191,099,017 - 91,216,729 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01184,188,557 - 84,306,686 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11187,769,989 - 87,888,138 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1187,769,606 - 87,888,138 (+)Ensemblpanpan1.1panPan2
TYR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12110,799,940 - 10,894,187 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2110,799,940 - 10,894,191 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2110,649,581 - 10,749,918 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02110,980,195 - 11,074,816 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2110,980,195 - 11,074,820 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12110,768,466 - 10,862,962 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02110,834,102 - 10,934,647 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02110,884,281 - 10,984,898 (-)NCBIUU_Cfam_GSD_1.0
Tyr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494774,823,234 - 74,920,675 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936736421,598 - 519,253 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936736421,623 - 519,085 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TYR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl922,517,047 - 22,604,290 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1922,517,047 - 22,604,290 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2925,164,768 - 25,214,580 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TYR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1180,330,051 - 80,444,646 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604345,283,848 - 45,401,720 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tyr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624845844,293 - 933,098 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624845844,492 - 933,098 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TYR
563 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003466887]|Tyrosinase-negative oculocutaneous albinism [RCV000033111]|not provided [RCV002513316] Chr11:89178225 [GRCh38]
Chr11:88911393 [GRCh37]
Chr11:11q14.3
pathogenic|likely pathogenic
NM_000372.5(TYR):c.929dup (p.Arg311fs) duplication Inborn genetic diseases [RCV000623277]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460412]|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 1 [RCV003993735]|Oculocutaneous albinism type 1B [RCV001249700]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003466799]|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]|TYR-related disorder [RCV004532280]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460413]|TYR-related disorder [RCV004532281]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003466800]|See cases [RCV003156054]|TYR-related disorder [RCV004532282]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460414]|TYR-related disorder [RCV004532283]|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|no classifications from unflagged records|not provided
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) single nucleotide variant Oculocutaneous albinism [RCV000341159]|Oculocutaneous albinism type 1B [RCV004527285]|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
pathogenic|likely pathogenic|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 type 1 [RCV003985252]|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|no classifications from unflagged records|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460415]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460416]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460417]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460418]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003466801]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460419]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460420]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004566679]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460421]|TYR-related disorder [RCV004532284]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460422]|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]|Oculocutaneous albinism [RCV003492282]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460423]|See cases [RCV003156055]|Tyrosinase-negative oculocutaneous albinism [RCV000004000]|Tyrosinase-negative oculocutaneous albinism [RCV003488321]|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 Oculocutaneous albinism [RCV004526588]|Tyrosinase-negative oculocutaneous albinism [RCV000004002]|not provided [RCV000085897] Chr11:89227898 [GRCh38]
Chr11:88961066 [GRCh37]
Chr11:11q14.3
pathogenic|likely 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 Oculocutaneous albinism [RCV003387715]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003466802]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003466803]|TYR-related disorder [RCV004540988]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004566680]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003466804]|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]|not specified [RCV003488322] Chr11:89178599 [GRCh38]
Chr11:88911767 [GRCh37]
Chr11:11q14.3
pathogenic|uncertain significance|no classifications from unflagged records|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460772]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460773]|TYR-related disorder [RCV004529897]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460774]|TYR-related disorder [RCV004529898]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460775]|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
pathogenic|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|uncertain significance|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
pathogenic|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460776]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460777]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003467005]|not provided [RCV000085922] Chr11:89284945 [GRCh38]
Chr11:89018113 [GRCh37]
Chr11:11q14.3
pathogenic|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|conflicting interpretations of pathogenicity|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460778]|not provided [RCV000085929] Chr11:89178108 [GRCh38]
Chr11:88911276 [GRCh37]
Chr11:11q14.3
pathogenic|likely pathogenic|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003467006]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460779]|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 TYR-related disorder [RCV004529899]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004566983]|not provided [RCV000085940] Chr11:89177977 [GRCh38]
Chr11:88911145 [GRCh37]
Chr11:11q14.3
pathogenic|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460780]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460781]|not provided [RCV000085947] Chr11:89178292..89178293 [GRCh38]
Chr11:88911460..88911461 [GRCh37]
Chr11:11q14.3
pathogenic|not provided
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003467007]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460782]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460783]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460784]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003467008]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003467009]|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
pathogenic|not provided
NM_000372.5(TYR):c.820-3C>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460785]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003460786]|TYR-related disorder [RCV004529900]|Tyrosinase-negative oculocutaneous albinism [RCV000502958]|Tyrosinase-negative oculocutaneous albinism [RCV000762869]|Tyrosinase-negative oculocutaneous albinism [RCV003488383]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004566984]|not provided [RCV000085975] Chr11:89191222 [GRCh38]
Chr11:88924390 [GRCh37]
Chr11:11q14.3
pathogenic|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003467010]|TYR-related disorder [RCV004529901]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004567159]|Tyrosinase-negative oculocutaneous albinism [RCV000133602] Chr11:89178504 [GRCh38]
Chr11:88911672 [GRCh37]
Chr11:11q14.3
pathogenic|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
pathogenic|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003462303]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003462302]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004567398]|Tyrosinase-negative oculocutaneous albinism [RCV000192311]|not provided [RCV000732318] Chr11:89178611 [GRCh38]
Chr11:88911779 [GRCh37]
Chr11:11q14.3
pathogenic|likely 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]|TYR-related disorder [RCV004543112]|Tyrosinase-negative oculocutaneous albinism [RCV001590907]|not provided [RCV000288287] Chr11:89178457 [GRCh38]
Chr11:88911625 [GRCh37]
Chr11:11q14.3
benign|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 TYR-related disorder [RCV004530706]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004568665]|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
pathogenic|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004567901]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464078]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003470633]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003470379]|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]|not specified [RCV003488627] 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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464077]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004568641]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464076]|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]|TYR-related disorder [RCV004535625]|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 TYR-related disorder [RCV004541572]|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
pathogenic|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004568312]|Tyrosinase-negative oculocutaneous albinism [RCV002497252]|not provided [RCV000598065] Chr11:89295166..89295167 [GRCh38]
Chr11:89028334..89028335 [GRCh37]
Chr11:11q14.3
pathogenic|likely pathogenic
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464111]|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004568657]|not provided [RCV000512841] Chr11:89178260 [GRCh38]
Chr11:88911428 [GRCh37]
Chr11:11q14.3
pathogenic|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003461012]|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]|not provided [RCV003558555] 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]|not provided [RCV003769286] Chr11:89178342..89178344 [GRCh38]
Chr11:88911510..88911512 [GRCh37]
Chr11:11q14.3
pathogenic|uncertain significance
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
pathogenic|likely pathogenic
NM_000372.5(TYR):c.149C>T (p.Ser50Leu) single nucleotide variant TYR-related disorder [RCV004536256]|not provided [RCV001699988] Chr11:89178102 [GRCh38]
Chr11:88911270 [GRCh37]
Chr11:11q14.3
likely pathogenic|uncertain significance
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]|not provided [RCV003698830] Chr11:89191360 [GRCh38]
Chr11:88924528 [GRCh37]
Chr11:11q14.3
likely benign|uncertain significance
NM_000372.5(TYR):c.1044T>C (p.Ala348=) single nucleotide variant Oculocutaneous albinism [RCV001109654]|not provided [RCV003718327] Chr11:89227830 [GRCh38]
Chr11:88960998 [GRCh37]
Chr11:11q14.3
likely benign|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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004569822]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003446688]|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 not specified [RCV003988464] Chr11:89295330..89295331 [GRCh38]
Chr11:89028498..89028499 [GRCh37]
Chr11:11q14.3
pathogenic|uncertain significance
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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003463045]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003470878]|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]|not provided [RCV003774867] 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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003470916]|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]|not provided [RCV003660901] 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]|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003470858]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003470908]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003470930]|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 provided [RCV003560866]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464274]|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 Inborn genetic diseases [RCV004042678]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003471003]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464319]|not provided [RCV001949398] Chr11:89227892 [GRCh38]
Chr11:88961060 [GRCh37]
Chr11:11q14.3
pathogenic|likely 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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003471243]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003471261]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464188]|not provided [RCV001894868] Chr11:89178659 [GRCh38]
Chr11:88911827 [GRCh37]
Chr11:11q14.3
pathogenic|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464292]|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004571879]|not provided [RCV001998294] Chr11:89191418 [GRCh38]
Chr11:88924586 [GRCh37]
Chr11:11q14.3
pathogenic|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464201]|not provided [RCV001897211] Chr11:89284955 [GRCh38]
Chr11:89018123 [GRCh37]
Chr11:11q14.3
pathogenic|likely 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 Hereditary breast ovarian cancer syndrome [RCV004542201]|Monogenic diabetes [RCV004526163]|Oculocutaneous albinism [RCV004579584]|not provided [RCV001958629] Chr11:89178579 [GRCh38]
Chr11:88911747 [GRCh37]
Chr11:11q14.3
pathogenic|likely 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 TYR-related disorder [RCV004538695]|not provided [RCV001990234] Chr11:89178500 [GRCh38]
Chr11:88911668 [GRCh37]
Chr11:11q14.3
pathogenic|likely pathogenic|uncertain significance
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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003464296]|not provided [RCV001960618] Chr11:89284934 [GRCh38]
Chr11:89018102 [GRCh37]
Chr11:11q14.3
pathogenic|likely 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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV004571547]|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 TYR-related disorder [RCV004536518]|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]|not specified [RCV004526941] 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 TYR-related disorder [RCV004536496]|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 TYR-related disorder [RCV004536545]|not provided [RCV003037427] Chr11:89227820 [GRCh38]
Chr11:88960988 [GRCh37]
Chr11:11q14.3
likely pathogenic|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
pathogenic|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 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN [RCV003459703]|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
pathogenic|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=) si