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 risk factor not provided total
54 37 60 34 24 2 32 202

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not specified 0 0 27 26 21 0 29 84
not provided 33 12 15 0 9 0 0 68
Maturity-onset diabetes of the young, type 3 24 26 8 4 1 0 5 67
Maturity onset diabetes mellitus in young 1 0 9 7 6 0 0 23
Monogenic diabetes 2 0 4 2 1 0 0 9
Diabetes mellitus type 1; Diabetes mellitus, insulin-dependent, 20; Maturity-onset diabetes of the young, type 3; Diabetes mellitus type 2; Hepatic adenomas, familial; Renal cell carcinoma, nonpapillary 3 0 2 0 0 0 0 5
Diabetes mellitus, insulin-dependent, 20 4 0 0 0 0 0 0 4
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
Diabetes mellitus type 2 0 0 0 0 0 1 1 2
Chromophobe renal cell carcinoma 1 0 0 0 0 0 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
SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Athena Diagnostics Inc 20 4 20 2 16 0 0 62
GeneDx 17 6 2 12 12 0 0 49
Integrated Genetics/Laboratory Corporation of America 1 23 8 4 1 0 5 42
Genetic Services Laboratory, University of Chicago 4 3 8 11 3 0 0 29
ITMI 0 0 0 0 0 0 29 29
Illumina Clinical Services Laboratory,Illumina 0 0 9 7 6 0 0 22
OMIM 19 0 0 0 0 2 0 21
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 4 2 1 0 0 7
Gharavi Laboratory,Columbia University 4 2 1 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 4 0 1 0 0 5
Fulgent Genetics 3 0 2 0 0 0 0 5
Translational Genomics Laboratory,University of Maryland School of Medicine 4 0 0 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 0 2
SNPedia 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 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

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