ClinVar Miner

Variants studied for thyroid gland disorder

Included ClinVar conditions (105):
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 affects risk factor not provided total
566 562 3148 1512 359 2 1 19 5765

Gene and significance breakdown #

Total genes and gene combinations: 96
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
RET 89 30 1687 1271 83 0 0 7 3014
SLC26A4 115 173 222 46 26 0 0 8 480
TG 41 57 239 26 27 0 0 1 375
DUOX2 48 87 207 17 17 0 0 0 350
THRB 51 14 102 16 64 0 0 0 243
TPO 31 34 85 7 19 0 0 1 171
TSHR 35 30 67 12 48 0 0 1 146
SLC5A5 11 19 73 12 7 0 0 0 117
PAX8 10 7 79 9 10 0 0 0 114
DICER1 11 7 76 9 4 0 0 0 107
ALB 3 0 33 6 14 0 0 0 55
TTR 5 4 28 13 0 2 0 0 50
NKX2-5 3 2 31 4 1 0 0 0 41
KCNJ10 2 2 30 6 0 0 0 0 40
LOC106736614, RET 0 0 31 10 0 0 0 0 40
IGSF1 13 4 10 2 7 0 0 0 35
DUOXA2 12 18 1 0 5 0 0 0 32
LOC123956210, SLC26A4 8 11 11 5 4 0 0 1 31
HRAS, LRRC56 7 2 12 4 0 0 0 0 24
IYD 5 9 7 1 3 0 0 0 21
LOC130003710, RET 0 0 4 14 0 0 0 0 17
NTRK1 2 1 14 0 0 0 0 0 17
TSHB 6 6 3 2 1 0 0 0 15
SLA, TG 0 0 9 1 3 0 0 0 13
THRA 5 5 3 0 0 0 0 0 13
LOC126806104, TPO 0 5 8 0 0 0 0 0 12
SECISBP2 8 1 3 0 0 0 0 0 12
TBL1X 4 2 6 0 4 0 0 0 12
LOC126806630, THRB 3 0 7 0 1 0 0 0 11
FOXI1 1 0 7 2 0 0 0 0 10
LOC126806316, PAX8 1 0 8 1 0 0 0 0 10
CEP128, TSHR 1 0 6 1 3 0 0 0 9
FANCB 0 0 0 6 0 0 0 0 6
IRS4 3 0 1 0 2 0 0 0 6
SRGAP1 2 0 2 1 0 0 1 0 6
CTLA4 2 3 0 0 0 0 0 0 5
HABP2 0 0 3 2 0 0 0 0 5
TRHR 4 3 0 0 0 0 0 0 5
FOXE1 1 1 1 1 0 0 0 0 4
LOC110121502, MCS+9.7, RET 0 0 0 1 3 0 0 0 4
TRH 0 0 1 0 3 0 0 0 4
AOPEP, FANCC 0 0 1 2 0 0 0 0 3
DUOXA1, DUOXA2 1 2 0 0 0 0 0 0 3
INSRR, NTRK1 0 0 3 0 0 0 0 0 3
LOC130064074, NDUFA13 1 2 0 0 0 0 0 0 3
MINPP1 3 0 0 0 0 0 0 0 3
NKX2-1, SFTA3 1 1 1 0 0 0 0 0 3
NR1D1, THRA 1 0 2 0 0 0 0 0 3
TUBB1 3 0 0 0 0 0 0 0 3
ARID4A, PSMA3, TIMM9, TOMM20L 0 2 0 0 0 0 0 0 2
ATM, C11orf65 0 0 2 0 0 0 0 0 2
BRAF 2 0 0 0 0 0 0 0 2
LINC01121 0 2 0 0 0 0 0 0 2
LOC106736614, LOC110121502, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, MCS+9.7, RET 0 0 2 0 0 0 0 0 2
LOC108281110, PAX8 0 0 2 0 0 0 0 0 2
MEN1 2 0 0 0 0 0 0 0 2
NRAS 1 0 1 0 0 0 0 0 2
PTEN 1 0 1 0 0 0 0 0 2
RINT1 0 2 0 0 0 0 0 0 2
TP53 2 0 0 0 0 0 0 0 2
VPS13C 0 2 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 1
ADNP 0 1 0 0 0 0 0 0 1
ALB, LOC111832671 0 0 0 1 0 0 0 0 1
ALK 0 0 0 1 0 0 0 0 1
ARID1B, TMEM242, ZDHHC14 0 0 1 0 0 0 0 0 1
BARD1 0 0 1 0 0 0 0 0 1
CCDC186 1 0 0 0 0 0 0 0 1
CEL 0 0 1 0 0 0 0 0 1
CHD7 1 0 0 0 0 0 0 0 1
CLDN9 0 0 1 0 0 0 0 0 1
COL7A1 0 1 0 0 0 0 0 0 1
COPB1, CYP2R1, PDE3B, PSMA1 0 1 0 0 0 0 0 0 1
CR1 0 0 1 0 0 0 0 0 1
CYP2R1, PDE3B, PSMA1 0 1 0 0 0 0 0 0 1
DHX32 0 0 1 0 0 0 0 0 1
DIAPH1 0 1 0 0 0 0 0 0 1
FBXO31 0 0 1 0 0 0 0 0 1
GNB1 1 0 0 0 0 0 0 0 1
HUWE1 0 0 1 0 0 0 0 0 1
KIF1B 0 1 0 0 0 0 0 0 1
KRAS 0 1 0 0 0 0 0 0 1
LIG4 0 1 0 0 0 0 0 0 1
MYO7A 0 0 1 0 0 0 0 0 1
OTOF 0 0 1 0 0 0 0 0 1
PALB2 0 0 1 0 0 0 0 0 1
PCM1 0 0 1 0 0 0 0 0 1
POGZ 0 1 0 0 0 0 0 0 1
PRSS3, UBE2R2 0 0 1 0 0 0 0 0 1
PSMD3 0 1 0 0 0 0 0 0 1
SCNN1A 0 0 1 0 0 0 0 0 1
SDHA 0 0 1 0 0 0 0 0 1
SLC26A7 0 1 0 0 0 0 0 0 1
SLC33A1 0 1 0 0 0 0 0 0 1
TRU-TCA1-1 1 0 0 0 0 0 0 0 1
TTF1 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 142
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 78 13 1574 1189 63 0 0 0 2917
Illumina Laboratory Services, Illumina 11 11 942 111 203 0 0 0 1240
Fulgent Genetics, Fulgent Genetics 142 258 476 116 8 0 0 0 1000
All of Us Research Program, National Institutes of Health 12 7 449 219 4 0 0 0 691
Counsyl 22 95 163 58 6 0 0 0 344
OMIM 222 0 2 0 0 2 1 0 227
Genome-Nilou Lab 41 36 44 17 53 0 0 0 191
Myriad Genetics, Inc. 33 29 30 43 16 0 0 0 151
Natera, Inc. 54 8 50 19 19 0 0 0 150
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 92 39 2 0 1 0 0 0 134
Mendelics 5 2 61 18 19 0 0 0 105
Baylor Genetics 21 12 39 0 0 0 0 0 72
Revvity Omics, Revvity 12 10 49 0 0 0 0 0 71
Juno Genomics, Hangzhou Juno Genomics, Inc 43 15 3 0 0 0 0 0 61
Color Diagnostics, LLC DBA Color Health 3 3 8 17 16 0 0 0 47
Genetics and Molecular Pathology, SA Pathology 11 9 13 2 9 0 0 0 44
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 31 2 7 0 0 0 0 0 40
KCCC/NGS Laboratory, Kuwait Cancer Control Center 4 0 2 12 21 0 0 0 39
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 33 2 0 0 0 0 36
3billion, Medical Genetics 11 12 8 0 0 0 0 0 31
Polak associated Lab, IMAGINE Institute 18 6 0 1 2 0 0 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 23 2 1 0 0 0 0 0 26
ClinGen Hearing Loss Variant Curation Expert Panel 7 7 4 3 5 0 0 0 26
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 23 0 0 0 24
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 4 9 0 0 0 0 0 21
Neuberg Centre For Genomic Medicine, NCGM 6 5 7 0 0 0 0 0 18
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 5 0 0 0 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 4 8 0 0 0 0 0 15
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 9 0 0 0 0 0 0 14
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 7 2 3 1 0 0 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 4 0 0 0 0 0 0 12
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 5 3 4 0 0 0 0 0 12
MGZ Medical Genetics Center 6 1 5 0 0 0 0 0 12
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 4 6 0 0 0 0 0 12
Molecular Endocrinology Laboratory, Poznan University of Medical Sciences 0 9 0 0 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 1 3 5 0 0 0 0 0 9
Leiden Open Variation Database 0 0 1 8 0 0 0 0 9
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 8 0 0 0 1 0 0 0 9
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 3 3 3 0 0 0 0 0 9
GeneReviews 0 0 0 0 0 0 0 8 8
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 0 0 7
CSER _CC_NCGL, University of Washington 1 0 5 1 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 0 2 2 0 0 0 0 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 3 1 1 0 0 0 7
Hereditary Research Laboratory, Bethlehem University 6 0 0 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 6 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 1 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 0 0 0 0 0 0 6
New York Genome Center 1 0 5 0 0 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 0 2 0 0 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 2 0 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 3 0 1 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 1 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 4 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 2 0 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 2 1 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 0 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 2 0 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 2 1 1 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 4 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 2 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 0 0 3
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 3 0 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 2 0 1 0 0 0 0 0 3
NxGen MDx 0 2 1 0 0 0 0 0 3
Suma Genomics 1 0 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 0 0 2
Center for Statistical Genetics, Columbia University 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 1 1 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 0 2 0 0 0 0 0 2
3DMed Clinical Laboratory Inc 2 0 0 0 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 0 0 2
Department of Molecular Biology and Genetics, Acibadem University 0 2 0 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 0 0 2
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 2 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 2 2
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission 0 2 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 0 0 0 0 0 1
Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University 1 0 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
Institute of metabolic science 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg 1 0 0 0 0 0 0 0 1
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 0 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 0 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 1 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista 0 1 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 1
Weiss Lab, University of Miami 1 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics and Genetic Counseling, Mediscan Systems 1 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 0 0 1
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 1 0 0 0 0 0 0 0 1

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