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
59 76 290 171 164 14 22 2 543

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
not provided 31 20 113 94 75 0 0 0 298
Maturity onset diabetes mellitus in young 12 18 58 49 120 14 22 0 273
Maturity-onset diabetes of the young type 1 27 32 75 23 41 0 0 2 186
Familial hyperinsulinism 0 0 75 25 14 0 0 0 114
not specified 0 0 46 25 23 0 0 0 85
Monogenic diabetes 11 16 31 8 4 0 0 0 70
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2 4 25 11 1 0 0 0 43
HNF4A-related condition 1 3 5 18 1 0 0 0 28
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
Inborn genetic diseases 1 0 1 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: 67
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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
Invitae 16 6 57 46 25 0 0 0 150
GeneDx 6 5 33 48 50 0 0 0 142
Illumina Laboratory Services, Illumina 0 0 93 40 40 0 0 0 135
Athena Diagnostics Inc 13 5 33 7 24 0 0 0 82
ClinGen Monogenic Diabetes Variant Curation Expert Panel 11 16 24 8 3 0 0 0 62
Genetic Services Laboratory, University of Chicago 5 12 24 11 8 0 0 0 60
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 10 20 12 3 0 0 2 51
Ambry Genetics 6 4 9 19 10 0 0 0 48
Fulgent Genetics, Fulgent Genetics 2 4 24 11 1 0 0 0 42
PreventionGenetics, part of Exact Sciences 1 3 5 20 9 0 0 0 38
Geisinger Clinic, Geisinger Health System 13 9 0 0 0 0 0 0 22
CeGaT Center for Human Genetics Tuebingen 0 1 2 3 8 0 0 0 14
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 9 2 0 0 0 0 12
OMIM 8 0 0 0 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 5 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 1 0 0 0 3
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
AiLife Diagnostics, AiLife Diagnostics 0 0 3 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 1 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 1 1 0 0 0 0 0 2
3billion 1 1 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 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
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
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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

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