ClinVar Miner

Variants in gene HNF4A

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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
83 109 370 203 173 14 22 2 682

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
not provided 37 26 138 113 76 0 0 0 347
Maturity onset diabetes mellitus in young 14 20 61 57 121 14 22 0 280
Maturity-onset diabetes of the young type 1 28 38 79 23 41 0 0 2 197
Monogenic diabetes 46 44 81 10 7 0 0 0 186
not specified 0 0 48 46 32 0 0 0 115
Familial hyperinsulinism 0 0 75 25 14 0 0 0 114
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 5 7 64 14 1 0 0 0 91
HNF4A-related disorder 3 6 12 20 1 0 0 0 42
Hyperinsulinism, Dominant 0 0 18 3 0 0 0 0 21
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 1 1 7 0 0 0 0 0 9
Type 2 diabetes mellitus 1 0 3 2 1 0 0 0 6
Autosomal dominant polycystic liver disease 0 1 2 0 0 0 0 0 3
Hyperinsulinemia 1 1 0 0 0 0 0 0 2
Hyperinsulinism due to HNF4A deficiency 0 2 0 0 0 0 0 0 2
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus 0 0 2 0 0 0 0 0 2
Glycosuria 0 0 0 0 1 0 0 0 1
Hyperinsulinism due to HNF1A deficiency 1 0 0 0 0 0 0 0 1
Maturity-onset diabetes of the young type 1; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 1 0 0 0 0 0 0 0 1
Maturity-onset diabetes of the young type 2 0 0 1 0 0 0 0 0 1
Maturity-onset diabetes of the young type 3 1 0 0 0 0 0 0 0 1
See cases 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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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 2 9 38 31 114 14 22 0 230
Labcorp Genetics (formerly Invitae), Labcorp 24 6 76 59 25 0 0 0 190
ClinGen Monogenic Diabetes Variant Curation Expert Panel 46 44 76 10 6 0 0 0 182
GeneDx 8 7 35 48 50 0 0 0 148
Illumina Laboratory Services, Illumina 0 0 93 40 40 0 0 0 135
Fulgent Genetics, Fulgent Genetics 4 7 62 14 1 0 0 0 88
Athena Diagnostics 15 4 34 8 25 0 0 0 86
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 9 23 31 10 0 0 2 81
Ambry Genetics 6 5 11 28 11 0 0 0 61
Genetic Services Laboratory, University of Chicago 5 12 24 11 8 0 0 0 60
PreventionGenetics, part of Exact Sciences 3 5 12 22 9 0 0 0 51
Breakthrough Genomics, Breakthrough Genomics 0 0 4 19 25 0 0 0 48
Geisinger Clinic, Geisinger Health System 13 9 0 0 0 0 0 0 22
CeGaT Center for Human Genetics Tuebingen 0 1 4 7 7 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 3 3 2 5 0 0 0 14
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 9 2 0 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 1 3 2 0 0 0 9
OMIM 8 0 0 0 0 0 0 0 8
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 7 0 1 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 1 5 0 0 0 0 7
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 0 0 6
Revvity Omics, Revvity 0 0 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 0 0 0 4
Mendelics 2 0 2 0 0 0 0 0 4
Translational Genomics Laboratory, University of Maryland School of Medicine 3 1 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 3 1 0 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 1 2 0 0 0 0 0 4
MVZ Medizinische Genetik Mainz 0 2 2 0 0 0 0 0 4
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 0 1 2 0 0 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 0 3 0 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 1 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 0 0 3
3billion 1 2 0 0 0 0 0 0 3
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 0 2 1 0 0 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 0 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 0 2
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 0 1 1 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 1 1 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 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
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 0 0 1
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 0 0 1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 0 1 0 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 0 0 1

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