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 not provided total
44 27 77 22 14 1 168

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperinsulinism, Dominant/Recessive 0 0 27 16 0 0 43
Maturity onset diabetes mellitus in young 0 0 27 16 0 0 43
Transient Neonatal Diabetes, Dominant 0 0 27 16 0 0 43
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia 0 10 25 0 0 0 35
not specified 0 0 12 5 13 0 28
Permanent neonatal diabetes mellitus 24 0 0 0 0 0 24
not provided 3 4 15 0 2 0 24
Islet cell hyperplasia 10 5 1 0 5 0 21
Diabetes mellitus, permanent neonatal, with neurologic features 8 0 0 0 0 0 8
Diabetes mellitus 5 1 1 0 0 0 7
Neonatal insulin-dependent diabetes mellitus 5 1 0 0 0 0 6
Neonatal diabetes mellitus 0 2 0 2 0 0 4
Transient neonatal diabetes mellitus 3 4 0 0 0 0 0 4
Maturity-onset diabetes of the young, type 13 2 1 0 0 0 0 3
Monogenic diabetes 0 0 1 0 2 0 3
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia; Diabetes mellitus type 2; Maturity-onset diabetes of the young, type 13 0 1 2 0 0 0 3
DEND syndrome 0 1 0 0 0 0 1
Diabetes mellitus type 2 0 0 0 0 0 1 1
Diabetes mellitus type 2; Maturity-onset diabetes of the young, type 13 1 0 0 0 0 0 1
Hypertrichosis; Hypoglycemia; Hyperinsulinemia; Atopic dermatitis 0 1 0 0 0 0 1
KCNJ11-Related Disorders 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genetic Services Laboratory, University of Chicago 13 6 13 4 11 0 47
Illumina Clinical Services Laboratory,Illumina 0 0 28 16 0 0 44
Counsyl 0 10 25 0 0 0 35
GeneReviews 26 0 0 0 0 0 26
OMIM 23 0 0 0 0 0 23
Athena Diagnostics Inc 2 3 6 1 6 0 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 9 0 2 0 12
PreventionGenetics 0 0 0 0 9 0 9
Integrated Genetics/Laboratory Corporation of America 0 2 0 2 0 0 4
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 1 0 2 0 3
GeneDx 0 0 1 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Invitae 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
Translational Genomics Laboratory,University of Maryland School of Medicine 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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