ClinVar Miner

Variants studied for disorder of glycolysis

Included ClinVar conditions (69):
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 likely risk allele uncertain risk allele not provided total
696 719 2382 1466 679 4 124 140 83 5412

Gene and significance breakdown #

Total genes and gene combinations: 60
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele uncertain risk allele not provided total
PFKM 48 84 167 524 41 0 0 0 1 825
ABCC8 35 18 494 49 33 0 0 18 13 619
GCK 147 240 146 70 87 0 49 53 6 607
HNF1A 94 108 124 92 78 0 31 25 3 418
HNF1B 153 86 104 75 44 0 19 17 0 413
HNF4A 37 57 150 70 132 0 14 22 2 357
ENO3 6 2 141 125 22 0 0 0 1 280
KCNJ11 19 19 179 22 28 0 1 0 24 228
ALDOA, LOC112694756 4 4 109 105 11 0 0 0 1 220
LDHA 5 2 86 54 13 0 0 0 0 150
PKLR 24 26 67 4 4 0 0 0 0 119
KLF11 2 0 68 20 24 0 0 0 0 111
BLK 4 0 50 25 30 0 0 0 0 104
DBNL, PGAM2 7 1 56 35 4 0 0 0 1 93
NEUROD1 2 0 61 13 10 0 0 0 0 84
GPI 20 11 39 8 6 0 0 0 0 77
PAX4 2 0 40 26 8 0 0 0 0 73
TPI1 8 3 41 10 12 0 0 0 0 69
PGK1 16 3 36 12 2 0 0 0 0 66
PDX1 2 10 24 30 7 0 0 0 1 64
HNF1B, LOC126862549 15 14 14 9 6 0 2 2 0 53
INS, INS-IGF2 12 6 24 6 2 0 8 2 24 52
CEL 3 6 24 13 5 0 0 0 0 45
C12orf43, HNF1A 3 2 24 7 25 0 0 1 1 43
LDHB 0 0 24 2 4 4 0 0 0 34
HK1 8 8 8 1 7 0 0 0 1 32
BLK, LOC126860302 0 0 13 4 3 0 0 0 0 20
ABCC8, LOC110121471 1 0 8 7 4 0 0 0 0 18
DBNL, LOC129998343, PGAM2 3 2 11 4 1 0 0 0 0 17
DBNL, LOC129998342, PGAM2 1 0 6 7 3 0 0 0 0 15
DBNL, LOC129998341, PGAM2 0 0 8 4 0 0 0 0 0 11
HCN3, PKLR 0 0 9 0 1 0 0 0 0 10
APPL1 2 0 1 3 4 0 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 0 9
BLK, LOC126860303 0 0 1 3 5 0 0 0 0 8
LDHD 7 3 0 0 0 0 0 0 0 8
ABCC8, KCNJ11 0 0 5 7 4 0 0 0 1 7
INS, INS-IGF2, TH 0 0 1 5 5 0 0 0 0 7
MIR6505, PFKM 0 1 0 5 0 0 0 0 0 6
INS 1 1 2 1 0 0 0 0 3 4
INS, TH 0 0 0 4 0 0 0 0 0 4
PTF1A 1 0 1 1 1 0 0 0 0 4
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 1 0 0 0 0 0 0 2
PGAM2 1 0 1 0 0 0 0 0 0 2
ALDOA, C16orf54, CDIPT, KIF22, MAZ, MVP, PAGR1, PRRT2, QPRT, SPN, ZG16 0 1 0 0 0 0 0 0 0 1
ALDOA, LOC112694756, LOC130058806, LOC130058807 0 0 1 0 0 0 0 0 0 1
APPL1, ASB14 0 0 0 1 0 0 0 0 0 1
BLK, FAM167A 1 0 0 0 0 0 0 0 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 0 1
GTF2H1, HPS5, LDHA 0 0 1 0 0 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 0 1
LMNA 0 0 0 1 0 0 0 0 0 1
LOC127407129, RFX6 0 1 0 0 0 0 0 0 0 1
MLKL 1 0 0 0 0 0 0 0 0 1
PARK7 0 0 0 1 0 0 0 0 0 1
PAX2 0 0 1 0 0 0 0 0 0 1
PRKAG2 0 0 0 0 1 0 0 0 0 1
SCNN1B 0 0 1 0 0 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 141
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele uncertain risk allele not provided total
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 112 708 127 325 0 124 140 0 1592
Labcorp Genetics (formerly Invitae), Labcorp 57 29 430 833 72 0 0 0 0 1421
Illumina Laboratory Services, Illumina 5 1 713 204 275 0 0 0 0 1167
Fulgent Genetics, Fulgent Genetics 46 35 246 160 15 0 0 0 0 502
Ambry Genetics 70 49 91 156 32 0 0 0 0 398
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 52 135 24 25 4 0 0 0 6 246
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 21 4 0 0 0 0 0 217
OMIM 171 0 2 0 0 4 0 0 0 177
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 1 41 38 54 0 0 0 0 141
Revvity Omics, Revvity 6 7 99 0 0 0 0 0 0 112
Geisinger Clinic, Geisinger Health System 73 24 0 0 0 0 0 0 0 97
Natera, Inc. 3 9 46 21 17 0 0 0 0 96
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 8 61 1 6 0 0 0 0 89
Baylor Genetics 11 47 24 0 0 0 0 0 0 82
GeneReviews 2 0 0 0 0 0 0 0 63 65
New York Genome Center 1 1 45 0 0 0 0 0 0 47
Genome-Nilou Lab 0 0 5 2 37 0 0 0 0 44
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 24 9 10 0 0 0 0 0 0 43
Pars Genome Lab 0 0 1 6 32 0 0 0 0 39
Counsyl 0 9 26 1 0 0 0 0 0 36
3billion 6 10 20 0 0 0 0 0 0 36
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 0 0 36
Genetic Services Laboratory, University of Chicago 19 16 0 0 0 0 0 0 0 35
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 17 18 0 0 0 0 0 0 0 35
Mendelics 9 4 8 4 8 0 0 0 0 33
MVZ Medizinische Genetik Mainz 5 12 14 0 0 0 0 0 0 31
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 7 16 0 0 0 0 0 0 29
Genetics and Molecular Pathology, SA Pathology 5 14 6 0 0 0 0 0 0 25
Neuberg Centre For Genomic Medicine, NCGM 6 7 12 0 0 0 0 0 0 25
Juno Genomics, Hangzhou Juno Genomics, Inc 10 4 10 0 0 0 0 0 0 24
Myriad Genetics, Inc. 1 22 0 0 0 0 0 0 0 23
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 12 6 2 1 0 0 0 0 0 21
MGZ Medical Genetics Center 3 9 8 0 0 0 0 0 0 20
National Newborn Screening Laboratory, Hospital Nacional de Niños 3 17 0 0 0 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 6 7 7 0 0 0 0 0 0 20
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 19 19
Translational Genomics Laboratory, University of Maryland School of Medicine 10 7 0 0 0 0 0 0 0 17
Molecular Genetics, Royal Melbourne Hospital 4 4 6 1 2 0 0 0 0 17
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 0 0 0 0 14
Molecular Genetics, Madras Diabetes Research Foundation 3 4 6 1 0 0 0 0 0 14
ClinGen Monogenic Diabetes Variant Curation Expert Panel 5 7 0 0 0 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 4 0 0 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 7 0 0 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 2 5 0 0 0 0 0 0 9
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 2 5 1 0 0 0 0 0 9
MVZ Dr. Eberhard & Partner Dortmund 0 1 7 0 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 3 0 1 0 0 0 0 8
Genomics And Bioinformatics Analysis Resource, Columbia University 4 4 0 0 0 0 0 0 0 8
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 4 1 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 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 2 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 5 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 1 0 3 0 0 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 1 0 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 2 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 2 0 0 0 0 0 0 4
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 2 1 0 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 1 0 0 0 0 0 0 4
Kangwon National University Hospital 1 2 0 0 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 0 0 0 0 3
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 2 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 0 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 0 0 3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 2 0 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 0 0 0 3
Watson Genetic Lab 2 1 0 0 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 3 0 0 0 0 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 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 0 3
Elsea Laboratory, Baylor College of Medicine 1 0 0 1 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 0 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 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 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 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 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 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 0 2 0 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 0 0 2
Stone Lab, Washington University School of Medicine 2 0 0 0 0 0 0 0 0 2
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1 1 0 0 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 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 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 0 1
Center for Medical Genomics, Jagiellonian University Medical College 1 0 0 0 0 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 1 0 0 0 0 0 0 0 0 1
Sidra Medicine 1 0 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 0 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 0 1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 1 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
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 0 0 0 0 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 1
Center for Computational Genomics and Data Science, University of Alabama 1 0 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 0 1
Suma Genomics 0 0 1 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 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 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 0 1
King Fahd Medical Research Center, King Abdulaziz University 1 0 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 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 0 0 1

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