ClinVar Miner

Variants studied for disorder of glycolysis

Included ClinVar conditions (70):
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
740 835 2965 1598 685 4 124 140 83 6235

Gene and significance breakdown #

Total genes and gene combinations: 62
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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 49 93 173 554 41 0 0 0 1 869
ABCC8 57 73 624 54 33 0 0 18 13 812
GCK 150 248 173 77 87 0 49 53 6 649
HNF1A 97 117 171 91 80 0 31 25 3 477
HNF1B 154 101 139 77 46 0 19 17 0 461
HNF4A 37 60 187 74 132 0 14 22 2 396
ENO3 6 2 149 148 22 0 0 0 1 311
KCNJ11 20 27 209 22 28 0 1 0 24 261
ALDOA, LOC112694756 6 5 110 123 11 0 0 0 1 241
LDHA 5 4 106 65 13 0 0 0 0 182
CEL 4 7 110 18 5 0 0 0 0 137
PKLR 24 27 70 4 4 0 0 0 0 123
NEUROD1 2 0 98 13 10 0 0 0 0 119
KLF11 2 0 70 20 24 0 0 0 0 113
BLK 4 0 50 25 30 0 0 0 0 104
DBNL, PGAM2 8 1 59 43 4 0 0 0 1 104
PGK1 21 3 65 17 2 0 0 0 0 104
PDX1 2 10 60 33 7 0 0 0 1 101
GPI 21 11 40 13 7 0 0 0 0 85
PAX4 2 0 42 26 9 0 0 0 0 75
TPI1 8 3 42 14 12 0 0 0 0 73
INS, INS-IGF2 12 9 36 6 2 0 8 2 24 65
HNF1B, LOC126862549 15 15 19 10 6 0 2 2 0 61
C12orf43, HNF1A 3 2 33 7 25 0 0 1 1 51
LDHB 0 0 24 2 4 4 0 0 0 34
HK1 8 8 8 1 7 0 0 0 1 32
ABCC8, LOC110121471 2 0 18 7 4 0 0 0 0 28
BLK, LOC126860302 0 0 13 4 3 0 0 0 0 20
DBNL, LOC129998343, PGAM2 4 2 11 4 1 0 0 0 0 18
DBNL, LOC129998342, PGAM2 1 0 6 7 3 0 0 0 0 15
DBNL, LOC129998341, PGAM2 0 0 9 4 0 0 0 0 0 12
APPL1 2 0 2 4 4 0 0 0 0 11
HCN3, PKLR 0 0 9 0 1 0 0 0 0 10
BLK, LOC126860303 0 0 2 3 5 0 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 0 9
LDHD 7 3 1 0 0 0 0 0 0 9
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 2 1 3 1 0 0 0 0 3 5
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
APPL1, LOC129936926 0 0 0 1 0 0 0 0 0 1
BLK, FAM167A 1 0 0 0 0 0 0 0 0 1
CARS2 0 0 1 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: 148
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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 62 32 441 920 72 0 0 0 0 1527
Fulgent Genetics, Fulgent Genetics 93 158 858 180 15 0 0 0 0 1302
Illumina Laboratory Services, Illumina 5 1 713 204 275 0 0 0 0 1167
Ambry Genetics 72 52 90 173 33 0 0 0 0 420
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 59 135 19 16 4 0 0 0 6 239
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 21 4 0 0 0 0 0 217
OMIM 176 0 2 0 0 4 0 0 0 182
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 2 53 64 56 0 0 0 0 182
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, Medical Genetics 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 8 19 0 0 0 0 0 0 35
MVZ Medizinische Genetik Mainz 5 13 16 0 0 0 0 0 0 34
Mendelics 9 4 8 4 8 0 0 0 0 33
Neuberg Centre For Genomic Medicine, NCGM 7 7 14 0 0 0 0 0 0 28
Juno Genomics, Hangzhou Juno Genomics, Inc 11 4 12 0 0 0 0 0 0 27
Genetics and Molecular Pathology, SA Pathology 5 14 6 0 0 0 0 0 0 25
Myriad Genetics, Inc. 1 22 0 0 0 0 0 0 0 23
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 23 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
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 4 3 9 0 2 0 0 0 0 18
Molecular Genetics, Royal Melbourne Hospital 5 4 6 1 2 0 0 0 0 18
Translational Genomics Laboratory, University of Maryland School of Medicine 10 7 0 0 0 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
Clinical Genomics Laboratory, Washington University in St. Louis 2 2 6 0 0 0 0 0 0 10
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
Department of Clinical Genetics, Medical University of Lodz 3 3 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 2 0 0 0 0 0 0 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
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
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
CGC Genetics, Unilabs 0 2 0 0 0 0 0 0 0 2
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
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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 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
Department of Medical Genomics, Royal Prince Alfred Hospital 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
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 0 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 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
Genetics Department, Catlab 0 0 1 0 0 0 0 0 0 1

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