ClinVar Miner

Variants in gene HNF4A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 not provided total
25 22 156 72 81 2 289

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Maturity-onset diabetes of the young, type 1 10 14 67 23 41 2 148
Familial hyperinsulinism 0 0 75 25 14 0 114
not provided 14 7 33 21 39 0 106
not specified 0 0 19 20 18 0 51
Maturity onset diabetes mellitus in young 1 0 22 3 0 0 26
Hyperinsulinism, Dominant 0 0 18 3 0 0 21
Monogenic diabetes 0 0 7 0 1 0 8
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 1 0 4 0 0 0 5
Hyperinsulinism due to HNF4A deficiency 1 2 0 0 0 0 3
Maturity-onset diabetes of the young, type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 1 0 2 0 0 0 3
Type 2 diabetes mellitus 1 0 1 2 0 0 3
Hyperinsulinemia 1 1 0 0 0 0 2
Inborn genetic diseases 1 0 1 0 0 0 2
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 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 93 40 40 0 135
Athena Diagnostics Inc 10 3 26 5 22 0 66
GeneDx 5 2 8 11 22 0 48
Integrated Genetics/Laboratory Corporation of America 1 9 13 10 2 2 35
Invitae 0 0 1 15 11 0 27
Genetic Services Laboratory, University of Chicago 1 5 7 5 4 0 22
Broad Institute Rare Disease Group, Broad Institute 0 1 9 2 0 0 12
PreventionGenetics, PreventionGenetics 0 0 0 2 8 0 10
OMIM 8 0 0 0 0 0 8
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 7 0 1 0 8
Translational Genomics Laboratory,University of Maryland School of Medicine 3 1 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 1 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Ambry Genetics 1 0 1 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 0 0 0 0 1
Institute of Endocrinology, Diabetes & Metabolism,Max Healthcare Institute Ltd. 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 0 0 0 0 1

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