ClinVar Miner

Variants in gene HNF1A

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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 risk factor uncertain risk allele not provided total
197 197 378 241 112 31 2 25 31 865

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor uncertain risk allele not provided total
not provided 110 40 186 166 58 0 0 0 0 521
Maturity onset diabetes mellitus in young 55 64 41 69 75 30 0 25 0 316
Monogenic diabetes 84 78 133 10 10 0 0 0 0 311
Maturity-onset diabetes of the young type 3 54 46 60 13 17 1 0 0 3 177
not specified 0 0 62 47 32 0 0 0 29 140
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 5 4 33 16 1 0 0 0 0 59
HNF1A-related condition 6 6 8 26 1 0 0 0 0 47
Nonpapillary renal cell carcinoma 0 0 2 1 13 0 0 0 0 16
Type 1 diabetes mellitus 20 6 0 8 0 0 0 0 0 0 14
Diabetes mellitus 5 3 1 0 0 0 0 0 0 9
Type 2 diabetes mellitus 0 2 3 0 3 0 0 0 1 9
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus 0 0 6 0 0 0 0 0 0 6
Diabetes mellitus type 1 1 1 1 0 0 0 0 0 0 3
Clear cell carcinoma of kidney 2 0 0 0 0 0 0 0 0 2
Ovarian cancer 0 1 0 0 1 0 0 0 0 2
Breast carcinoma 0 1 0 0 0 0 0 0 0 1
Chromophobe renal cell carcinoma 1 0 0 0 0 0 0 0 0 1
DiGeorge syndrome 1 0 0 0 0 0 0 0 0 1
Diabetes mellitus type 2, susceptibility to 0 0 0 0 0 0 1 0 0 1
Hepatic adenomas, familial 1 0 0 0 0 0 0 0 0 1
Hyperinsulinism due to HNF1A deficiency 1 0 0 0 0 0 0 0 0 1
Insulin resistance, susceptibility to 0 0 0 0 0 0 1 0 0 1
Insulin-resistant diabetes mellitus 0 0 1 0 0 0 0 0 0 1
Maturity-onset diabetes of the young type 1 0 0 1 0 0 0 0 0 0 1
Reduced delayed hypersensitivity 0 1 0 0 0 0 0 0 0 1
SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF 0 0 0 0 0 0 1 0 0 1
Symphalangism affecting the proximal phalanx of the 4th finger 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor uncertain risk allele not provided total
Invitae 74 7 122 141 39 0 0 0 0 383
ClinGen Monogenic Diabetes Variant Curation Expert Panel 84 78 123 8 9 0 0 0 0 302
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 28 41 24 24 70 31 0 25 0 240
GeneDx 30 14 28 36 31 0 0 0 0 139
Athena Diagnostics Inc 45 11 45 9 28 0 0 0 0 138
Ambry Genetics 20 10 17 48 10 0 0 0 0 105
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 24 28 19 5 0 0 0 3 94
Genetic Services Laboratory, University of Chicago 15 8 26 23 8 0 0 0 0 80
PreventionGenetics, part of Exact Sciences 6 6 8 30 13 0 0 0 0 63
Fulgent Genetics, Fulgent Genetics 5 4 33 16 1 0 0 0 0 59
Illumina Laboratory Services, Illumina 1 0 24 10 11 0 0 0 0 46
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 2 31 0 0 0 0 0 0 40
ITMI 0 0 0 0 0 0 0 0 29 29
CeGaT Center for Human Genetics Tuebingen 5 2 5 9 5 0 0 0 0 26
Geisinger Clinic, Geisinger Health System 19 5 0 0 0 0 0 0 0 24
OMIM 19 0 0 0 0 0 2 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 1 3 1 4 0 0 0 0 15
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 1 13 0 0 0 0 14
Mendelics 1 1 5 1 4 0 0 0 0 12
Baylor Genetics 1 1 10 0 0 0 0 0 0 11
Eurofins Ntd Llc (ga) 2 0 5 0 4 0 0 0 0 11
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 7 2 1 0 0 0 0 10
Molecular Genetics, Madras Diabetes Research Foundation 3 3 3 1 0 0 0 0 0 10
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre 5 3 1 0 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 0 0 0 9
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 6 0 2 0 0 0 0 0 0 8
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 0 7 1 0 0 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 6 0 1 0 0 0 0 7
Gharavi Laboratory, Columbia University 4 2 1 0 0 0 0 0 0 7
New York Genome Center 0 0 6 0 0 0 0 0 0 6
Revvity Omics, Revvity 2 1 2 0 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 3 0 0 0 0 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 3 2 0 0 0 0 0 0 0 5
Translational Genomics Laboratory, University of Maryland School of Medicine 4 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 0 0 0 0 4
MGZ Medical Genetics Center 2 0 1 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 0 0 0 3
Institute of Experimental Endocrinology, Slovak Academy of Sciences 0 2 1 0 0 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 2 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 0 2
National Newborn Screening Laboratory, Hospital Nacional de Niños 0 2 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 0 0 2
3billion 0 0 2 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 0 0 0 2
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 1 0 0 0 0 2
SNPedia 0 0 0 0 0 0 0 0 1 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 0 0 1
Phenosystems SA 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
Stone Lab, Washington University School of Medicine 1 0 0 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 0 0 0 1

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