ClinVar Miner

Variants in gene KCNJ10

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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
23 17 245 124 37 1 377

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EAST syndrome 19 7 195 92 23 1 322
Autosomal recessive nonsyndromic hearing loss 4 2 1 76 13 3 0 94
not provided 3 8 45 22 18 0 90
Inborn genetic diseases 0 1 31 16 2 0 50
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome 2 2 25 5 0 0 34
not specified 0 0 10 19 8 0 33
Nonsyndromic Hearing Loss, Mixed 0 0 10 1 0 0 11
Pendred syndrome 0 0 10 1 0 0 11
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 0 0 10 1 0 0 11
Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome 0 0 3 0 0 0 3
Intellectual disability 0 0 1 1 0 0 2
KCNJ10-Related Disorders 0 0 2 0 0 0 2
SeSAME-like syndrome 2 0 0 0 0 0 2
Abnormality of the nervous system 0 1 0 0 0 0 1
Autism; Seizure; Intellectual disability 0 0 0 0 1 0 1
Cerebellar ataxia; Bilateral sensorineural hearing impairment; Spastic diplegia; Renal tubular dysfunction; Microcephaly 1 0 0 0 0 0 1
KCNJ10-related condition 0 0 1 0 0 0 1
Myoepithelial tumor 0 0 1 0 0 0 1
Nonsyndromic Hearing Loss, Recessive 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 3 132 87 5 0 238
Illumina Laboratory Services, Illumina 0 0 89 20 20 0 105
GeneDx 3 3 34 26 25 0 91
Ambry Genetics 0 1 31 16 2 0 50
Fulgent Genetics, Fulgent Genetics 2 2 25 5 0 0 34
Eurofins Ntd Llc (ga) 0 0 17 0 3 0 20
Genetic Services Laboratory, University of Chicago 0 3 6 8 0 0 17
OMIM 13 0 0 0 0 0 13
CeGaT Center for Human Genetics Tuebingen 0 2 2 5 1 0 10
Athena Diagnostics Inc 0 0 6 2 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Preventiongenetics, part of Exact Sciences 0 0 1 1 2 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 1 0 2
Wang Lab, Institute of Neuroscience, Xiamen university 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Revvity Omics, Revvity Omics 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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