ClinVar Miner

Variants in gene HNF1A

See also:
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 risk factor not provided total
74 48 134 64 43 2 31 321

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 45 16 36 32 33 0 0 159
Maturity-onset diabetes of the young, type 3 31 27 59 13 12 0 4 137
not specified 0 0 32 28 24 0 29 90
Monogenic diabetes 2 0 13 2 1 0 0 18
Diabetes mellitus, insulin-dependent, 20 4 0 7 0 0 0 0 11
Diabetes mellitus 5 3 1 0 0 0 0 9
Diabetes mellitus type 1; Diabetes mellitus, insulin-dependent, 20; Maturity-onset diabetes of the young, type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Renal cell carcinoma, nonpapillary 3 0 2 0 0 0 0 5
Maturity onset diabetes mellitus in young 2 2 0 1 0 0 0 5
Clear cell carcinoma of kidney 2 0 0 0 0 0 0 2
Diabetes mellitus type 1 1 1 0 0 0 0 0 2
Type 2 diabetes mellitus 0 1 0 0 0 0 1 2
Chromophobe renal cell carcinoma 1 0 0 0 0 0 0 1
Diabetes mellitus type 2, susceptibility to 0 0 0 0 0 1 0 1
Hepatic adenomas, familial 1 0 0 0 0 0 0 1
Insulin resistance, susceptibility to 0 0 0 0 0 1 0 1
Maturity-onset diabetes of the young, type 1 0 0 1 0 0 0 0 1
Renal cell carcinoma, nonpapillary 0 0 1 0 0 0 0 1
SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF 0 0 0 0 0 1 0 1
none provided 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Athena Diagnostics Inc 31 6 33 7 22 0 0 99
GeneDx 18 7 2 18 22 0 0 67
Integrated Genetics/Laboratory Corporation of America 2 23 12 6 1 0 4 48
Invitae 1 1 8 23 15 0 0 48
Illumina Clinical Services Laboratory,Illumina 0 0 24 10 11 0 0 45
Broad Institute Rare Disease Group, Broad Institute 7 2 31 0 0 0 0 40
Genetic Services Laboratory, University of Chicago 4 3 8 10 4 0 0 29
ITMI 0 0 0 0 0 0 29 29
OMIM 19 0 0 0 0 2 0 21
PreventionGenetics, PreventionGenetics 0 0 0 4 12 0 0 16
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 5 0 4 0 0 11
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 7 2 1 0 0 10
Constantin Polychronakos Laboratory,The Research Institute of the McGill University Health Centre 5 3 1 0 0 0 0 9
Mendelics 1 0 5 1 1 0 0 8
Baylor Genetics 0 0 7 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 6 0 1 0 0 7
Gharavi Laboratory,Columbia University 4 2 1 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 4 0 0 0 0 5
Translational Genomics Laboratory,University of Maryland School of Medicine 4 0 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 0 1
SNPedia 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 0 1
Institute of Endocrinology, Diabetes & Metabolism,Max Healthcare Institute Ltd. 0 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.