ClinVar Miner

Variants studied for maturity-onset diabetes of the young

Included ClinVar conditions (43):
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
491 599 1867 517 521 117 140 12 3593

Gene and significance breakdown #

Total genes and gene combinations: 40
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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 143 251 167 65 87 49 53 2 643
HNF1A 97 121 171 94 80 31 25 3 482
HNF1B 158 106 141 78 46 19 17 1 468
ABCC8 5 2 426 0 8 0 18 0 457
HNF4A 38 61 188 76 132 14 22 2 398
KCNJ11 5 15 206 13 25 1 0 0 231
CEL 4 7 119 18 5 0 0 0 146
NEUROD1 2 0 98 13 10 0 0 0 119
KLF11 2 0 71 20 24 0 0 0 114
BLK 4 0 51 25 30 0 0 0 105
PDX1 2 10 62 35 7 0 0 0 105
PAX4 2 0 44 26 9 0 0 0 77
HNF1B, LOC126862549 15 15 20 10 6 2 2 0 62
C12orf43, HNF1A 3 2 33 7 25 0 1 1 51
INS, INS-IGF2 4 7 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 4 4 0 0 0 11
BLK, LOC126860303 0 0 2 3 5 0 0 0 9
KLF11, LOC128897170 0 0 7 0 1 0 0 0 8
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
APPL1, LOC129936926 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: 112
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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 0 391 136 202 0 0 0 723
Ambry Genetics 72 54 92 183 33 0 0 0 434
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 54 137 18 16 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 28 0 0 0 0 0 30
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 8 16 0 0 0 28
Genetic Services Laboratory, University of Chicago 13 13 0 0 0 0 0 0 26
3billion 7 8 11 0 0 0 0 0 26
Mendelics 6 2 6 3 6 0 0 0 23
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 23 0 0 0 23
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 12 6 2 1 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
Molecular Genetics, Royal Melbourne Hospital 5 3 6 1 2 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
Institute of Human Genetics, University of Leipzig Medical Center 5 4 6 0 0 0 0 0 15
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
Gharavi Laboratory, Columbia University 7 6 0 0 0 0 0 0 13
ClinGen Monogenic Diabetes Variant Curation Expert Panel 5 7 0 0 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 2 1 8 0 0 0 0 0 11
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
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
Genetics Department, Catlab 1 1 1 0 0 0 0 0 3
CGC Genetics, Unilabs 0 2 0 0 0 0 0 0 2
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 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
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
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
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 0 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

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