ClinVar Miner

Variants in gene KCNJ11

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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 association association not found drug response likely risk allele uncertain risk allele not provided total
58 68 271 157 50 1 1 2 8 1 27 448

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association association not found drug response likely risk allele uncertain risk allele not provided total
not provided 37 23 79 141 17 0 0 0 0 0 0 283
Maturity onset diabetes mellitus in young 0 0 154 0 6 0 0 0 1 0 0 161
Hyperinsulinemic hypoglycemia, familial, 2 12 8 57 7 7 0 0 0 0 0 0 83
Diabetes mellitus, transient neonatal, 3 6 1 32 7 25 0 0 0 0 0 2 69
Maturity-onset diabetes of the young type 13 2 2 36 9 20 0 0 0 0 0 0 68
Permanent neonatal diabetes mellitus 1 4 24 9 6 0 0 0 0 0 24 68
not specified 0 1 27 12 13 0 0 0 0 0 0 50
Type 2 diabetes mellitus 4 20 3 0 3 1 1 0 4 0 1 36
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 0 9 25 0 0 0 0 0 0 0 0 34
Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2 0 3 20 4 0 0 0 0 0 0 0 27
Inborn genetic diseases 0 0 12 9 0 0 0 0 0 0 0 21
Diabetes mellitus, permanent neonatal 2 14 1 1 1 2 0 0 0 0 0 0 19
KCNJ11-related condition 0 1 8 9 0 0 0 0 0 0 0 18
Neonatal diabetes mellitus 3 7 0 2 0 0 0 0 0 0 0 12
Transitory neonatal diabetes mellitus 0 1 3 1 6 0 0 0 1 0 0 12
Hyperinsulinemia 0 0 8 0 0 0 0 0 0 1 0 9
Diabetes mellitus 5 1 1 0 0 0 0 0 0 0 0 7
Monogenic diabetes 0 1 4 0 2 0 0 0 0 0 0 7
Neonatal insulin-dependent diabetes mellitus 5 1 0 0 0 0 0 0 0 0 0 6
Neonatal hypoglycemia 0 0 2 0 3 0 0 0 0 0 0 5
KCNJ11-Related Disorders 1 1 1 0 0 0 0 0 0 0 0 3
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13 0 1 2 0 0 0 0 0 0 0 0 3
Hyperinsulinism, Dominant/Recessive 0 0 2 0 0 0 0 0 0 0 0 2
Hypoglycemia 0 0 0 0 0 0 0 0 2 0 0 2
Transient Neonatal Diabetes, Dominant 0 0 2 0 0 0 0 0 0 0 0 2
Atopic eczema; Hypertrichosis; Hypoglycemia; Hyperinsulinemia 0 1 0 0 0 0 0 0 0 0 0 1
DEND syndrome 1 0 0 0 0 0 0 0 0 0 0 1
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus 0 0 1 0 0 0 0 0 0 0 0 1
Glibenclamide response 0 0 0 0 0 0 0 1 0 0 0 1
Hyperinsulinemic hypoglycemia 0 0 0 0 1 0 0 0 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13 0 0 1 0 0 0 0 0 0 0 0 1
Permanent neonatal diabetes mellitus 1 0 0 1 0 0 0 0 0 0 0 0 1
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13 1 0 0 0 0 0 0 0 0 0 0 1
sulfonylureas response 0 0 0 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association association not found drug response likely risk allele uncertain risk allele not provided total
Invitae 33 14 36 128 12 0 0 0 0 0 0 223
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 2 168 3 19 1 1 2 8 1 0 201
Genetic Services Laboratory, University of Chicago 15 11 24 8 11 0 0 0 0 0 0 69
Illumina Laboratory Services, Illumina 0 0 56 10 24 0 0 0 0 0 0 63
GeneDx 3 2 18 11 10 0 0 0 0 0 0 44
Natera, Inc. 0 4 24 9 6 0 0 0 0 0 0 43
Counsyl 0 10 25 0 0 0 0 0 0 0 0 35
Fulgent Genetics, Fulgent Genetics 0 4 22 4 0 0 0 0 0 0 0 30
Baylor Genetics 4 19 4 0 0 0 0 0 0 0 0 27
Athena Diagnostics Inc 4 4 9 3 7 0 0 0 0 0 0 27
PreventionGenetics, part of Exact Sciences 0 1 8 9 9 0 0 0 0 0 0 27
GeneReviews 0 0 0 0 0 0 0 0 0 0 26 26
OMIM 24 0 0 0 0 0 0 0 0 0 0 24
Ambry Genetics 0 0 12 9 0 0 0 0 0 0 0 21
Eurofins Ntd Llc (ga) 1 0 9 0 2 0 0 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 3 6 0 0 0 0 0 0 0 11
Molecular Genetics, Madras Diabetes Research Foundation 3 6 1 0 0 0 0 0 0 0 0 10
Revvity Omics, Revvity 1 1 5 0 0 0 0 0 0 0 0 7
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 4 0 2 0 0 0 0 0 0 6
CeGaT Center for Human Genetics Tuebingen 0 0 3 2 1 0 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 2 0 0 0 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 2 0 0 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 4 0 0 0 0 0 0 4
Pars Genome Lab 0 0 0 2 2 0 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 0 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 2 0 0 0 0 0 0 0 0 3
Genome-Nilou Lab 1 0 0 1 1 0 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 0 0 0 0 0 2
Mendelics 1 0 0 1 0 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 0 0 0 0 0 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Translational Genomics Laboratory, University of Maryland School of Medicine 0 1 0 0 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 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 0 0 0 0 1
NxGen MDx 0 1 0 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 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 0 0 0 1
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre 1 0 0 0 0 0 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 0 0 0 0 1

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