ClinVar Miner

Variants in gene TYR

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
213 187 239 209 23 2 1 1 105 747

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
not provided 169 69 159 201 21 0 0 1 103 619
Oculocutaneous albinism type 1A 71 47 12 4 3 0 0 0 1 112
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 79 31 0 0 0 2 0 0 0 109
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 36 53 14 2 0 0 0 0 0 105
Oculocutaneous albinism 31 14 25 1 3 0 0 0 0 69
TYR-related disorder 29 12 6 6 2 0 0 0 0 55
not specified 0 0 48 5 3 0 0 0 0 53
Inborn genetic diseases 6 1 25 2 0 0 0 0 0 34
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 18 9 4 0 0 0 0 0 2 33
Oculocutaneous albinism type 1B 23 9 2 0 0 0 0 0 1 30
Nonsyndromic Oculocutaneous Albinism 0 14 0 0 0 0 0 0 0 14
Albinism or congenital nystagmus 6 0 5 0 0 0 0 0 0 11
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 6 3 2 0 0 0 0 0 0 11
Abnormality of the skin 4 3 0 0 0 0 0 0 0 7
Oculocutaneous albinism type 1 3 2 1 0 0 0 0 0 0 6
Foveal hypoplasia; Albinism; Abnormality of metabolism/homeostasis; Elevated circulating hepatic transaminase concentration; Slow decrease in visual acuity; Choroidal neovascularization 1 2 0 0 0 0 0 0 0 3
See cases 3 0 0 0 0 0 0 0 0 3
Albinism 0 2 0 0 0 0 0 0 0 2
Albinism; Abnormal retinal morphology; Strabismus; Abnormal optic nerve morphology; Horizontal nystagmus; Hypopigmentation of the skin; Ocular albinism; Fair hair 1 1 0 0 0 0 0 0 0 2
Albinism; Nystagmus; Myopia 2 0 0 0 0 0 0 0 0 2
Temperature-sensitive oculocutaneous albinism type 1 2 0 0 0 0 0 0 0 0 2
Abnormality of the eye 0 1 0 0 0 0 0 0 0 1
Albinism; Congenital nystagmus 0 0 1 0 0 0 0 0 0 1
Autosomal recessive ocular albinism 0 0 0 0 0 0 0 1 0 1
Hearing impairment 0 0 1 0 0 0 0 0 0 1
Horizontal nystagmus; Hypopigmentation of the skin; Hypopigmentation of hair; Iris transillumination defect 1 0 0 0 0 0 0 0 0 1
Malignant tumor of breast 0 0 0 1 0 0 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 8 0 0 0 0 0 0 1 0 0 1
Ocular albinism 1 0 0 0 0 0 0 0 0 1
Skin/hair/eye pigmentation 3, blue/green eyes 0 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 89
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 161 34 129 198 12 0 0 0 0 534
Baylor Genetics 79 28 2 0 0 0 0 0 0 107
Fulgent Genetics, Fulgent Genetics 36 54 14 2 0 0 0 0 0 104
Retina International 0 0 0 0 0 0 0 0 103 103
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 8 42 3 0 0 0 0 0 80
GeneDx 41 19 9 0 10 0 0 0 0 79
Genome-Nilou Lab 44 20 6 3 1 0 0 0 0 74
PreventionGenetics, part of Exact Sciences 29 13 8 8 3 0 0 0 0 61
CeGaT Center for Human Genetics Tuebingen 24 11 8 2 3 0 0 0 0 48
Genetic Services Laboratory, University of Chicago 30 10 5 1 0 0 0 1 0 47
Illumina Laboratory Services, Illumina 7 2 25 1 3 0 0 0 0 38
OMIM 34 0 0 0 1 2 1 0 0 36
Ambry Genetics 6 1 25 2 0 0 0 0 0 34
Eurofins Ntd Llc (ga) 16 2 12 0 1 0 0 0 0 31
Revvity Omics, Revvity 9 4 5 0 0 0 0 0 0 18
Juno Genomics, Hangzhou Juno Genomics, Inc 14 2 1 0 0 0 0 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 6 4 4 0 1 0 0 0 0 15
University of Washington Center for Mendelian Genomics, University of Washington 0 14 0 0 0 0 0 0 0 14
MGZ Medical Genetics Center 7 5 1 0 0 0 0 0 0 13
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 5 0 0 0 0 11
NHS Central & South Genomic Laboratory Hub 6 0 5 0 0 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 0 0 0 0 0 0 0 0 10
Clinical Genetics, Academic Medical Center 6 1 1 0 1 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 4 2 0 0 0 0 0 0 9
3billion 7 1 0 0 0 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 4 1 4 0 0 0 0 0 0 8
Kariminejad - Najmabadi Pathology & Genetics Center 4 3 0 0 0 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 2 1 1 0 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 2 0 0 0 0 0 0 0 6
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 6 0 0 0 0 0 0 0 0 6
Mendelics 3 0 0 1 1 0 0 0 0 5
Center of Medical Genetics, Central South University 2 3 0 0 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 0 0 0 4
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 0 0 2 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 0 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 0 0 0 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 0 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 3 0 0 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 0 0 2 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 0 0 0 2
Science and Research Branch, Islamic Azad University, Islamic Azad University 0 2 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 1 0 0 0 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 0 0 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 0 0 2
Molecular Genetics, University Hospital Bordeaux 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 0 1 0 1
Bionano Laboratories 1 0 0 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 1 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 0 0 0 1

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