ClinVar Miner

Variants studied for maturity-onset diabetes of the young

Included ClinVar conditions (40):
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 likely risk allele uncertain risk allele not provided total
484 580 1849 511 517 117 140 11 3548

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
GCK 142 245 168 66 87 49 53 2 636
HNF1A 96 116 174 92 78 31 25 3 476
HNF1B 154 101 139 78 44 19 17 0 461
ABCC8 5 2 426 0 8 0 18 0 457
HNF4A 37 60 187 74 132 14 22 2 396
KCNJ11 5 14 202 13 25 1 0 0 228
CEL 4 7 110 17 5 0 0 0 136
NEUROD1 2 0 98 13 10 0 0 0 119
KLF11 2 0 70 20 24 0 0 0 113
BLK 4 0 50 25 30 0 0 0 104
PDX1 2 10 60 34 7 0 0 0 101
PAX4 2 0 42 26 9 0 0 0 75
HNF1B, LOC126862549 15 15 19 11 6 2 2 0 61
C12orf43, HNF1A 3 2 33 7 25 0 1 1 51
INS, INS-IGF2 4 6 25 6 2 1 2 3 39
BLK, LOC126860302 0 0 13 4 3 0 0 0 20
ABCC8, LOC110121471 0 0 8 0 3 0 0 0 11
APPL1 2 0 2 3 4 0 0 0 10
BLK, LOC126860303 0 0 2 3 5 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 9
ABCC8, KCNJ11 0 0 5 6 2 0 0 0 7
INS, INS-IGF2, TH 0 0 1 5 5 0 0 0 7
INS 2 1 2 0 0 0 0 0 4
INS, TH 0 0 0 4 0 0 0 0 4
APPL1, ASB14 0 0 0 1 0 0 0 0 1
BLK, FAM167A 1 0 0 0 0 0 0 0 1
CARS2 0 0 1 0 0 0 0 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 1
LMNA 0 0 0 1 0 0 0 0 1
LOC127407129, RFX6 0 1 0 0 0 0 0 0 1
MLKL 1 0 0 0 0 0 0 0 1
PARK7 0 0 0 1 0 0 0 0 1
PAX2 0 0 1 0 0 0 0 0 1
PRKAG2 0 0 0 0 1 0 0 0 1
PTF1A 1 0 0 0 0 0 0 0 1
SCNN1B 0 0 1 0 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 108
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 112 696 125 325 117 140 0 1571
Fulgent Genetics, Fulgent Genetics 44 64 564 120 10 0 0 0 802
Illumina Laboratory Services, Illumina 1 0 395 136 202 0 0 0 727
Ambry Genetics 72 52 90 173 33 0 0 0 420
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 131 24 25 4 0 0 6 235
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 21 4 0 0 0 0 217
Geisinger Clinic, Geisinger Health System 73 24 0 0 0 0 0 0 97
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 8 61 1 5 0 0 0 88
OMIM 65 0 1 0 0 0 0 0 66
New York Genome Center 0 1 41 0 0 0 0 0 42
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 0 36
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 6 6 0 0 0 0 0 33
MVZ Medizinische Genetik Mainz 5 12 16 0 0 0 0 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 14 16 0 0 0 0 0 0 30
Genetic Services Laboratory, University of Chicago 13 13 0 0 0 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 4 16 0 0 0 24
Mendelics 6 2 6 3 6 0 0 0 23
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 12 6 2 1 0 0 0 0 21
3billion, Medical Genetics 4 6 11 0 0 0 0 0 21
Genetics and Molecular Pathology, SA Pathology 4 11 5 0 0 0 0 0 20
National Newborn Screening Laboratory, Hospital Nacional de Niños 3 17 0 0 0 0 0 0 20
Genome-Nilou Lab 0 0 0 0 19 0 0 0 19
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 4 3 9 0 2 0 0 0 18
Translational Genomics Laboratory, University of Maryland School of Medicine 10 7 0 0 0 0 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 8 3 6 0 0 0 0 0 17
Baylor Genetics 6 4 6 0 0 0 0 0 16
MGZ Medical Genetics Center 3 7 6 0 0 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 11 0 0 0 0 0 16
Molecular Genetics, Royal Melbourne Hospital 4 3 6 1 2 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 5 4 5 0 0 0 0 0 14
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 0 0 0 14
Molecular Genetics, Madras Diabetes Research Foundation 3 4 6 1 0 0 0 0 14
ClinGen Monogenic Diabetes Variant Curation Expert Panel 5 7 0 0 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 4 0 0 0 0 0 10
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 2 5 1 0 0 0 0 9
MVZ Dr. Eberhard & Partner Dortmund 0 1 7 0 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 0 7 0 0 0 0 0 8
Genomics And Bioinformatics Analysis Resource, Columbia University 4 4 0 0 0 0 0 0 8
Revvity Omics, Revvity 0 1 6 0 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 4 0 0 0 0 0 7
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 4 0 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 4 0 0 0 0 0 6
Department of Clinical Genetics, Medical University of Lodz 3 3 0 0 0 0 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 3 0 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 2 0 0 0 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 1 0 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 0 0 0 4
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 2 1 0 0 0 0 0 4
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 1 0 0 0 0 0 3
Kangwon National University Hospital 1 2 0 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 0 0 0 3
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 2 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 3 0 0 0 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 0 0 0 0 0 3
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 3 0 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 0 0 2
Stone Lab, Washington University School of Medicine 2 0 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 0 1 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 1
Center for Medical Genomics, Jagiellonian University Medical College 1 0 0 0 0 0 0 0 1
Sidra Medicine 1 0 0 0 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 0 1 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 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 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
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 0 0 1

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