ClinVar Miner

Variants in gene KANSL1

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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
43 19 237 336 247 1 789

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Koolen-de Vries syndrome 24 6 204 133 45 0 407
not provided 18 9 24 49 188 1 284
not specified 0 0 3 199 27 0 228
Syndromic intellectual disability 0 0 8 1 2 0 11
Inborn genetic diseases 3 3 3 0 0 0 9
Intellectual disability 3 0 1 2 0 0 6
See cases 0 0 0 0 4 0 4
Chromatinopathy 1 0 0 0 0 0 1
Dysplastic corpus callosum 0 1 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Premature ovarian failure 0 0 0 0 1 0 1
Seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 1 192 148 48 0 395
GeneDx 16 3 17 210 63 0 309
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 129 0 130
Athena Diagnostics Inc 0 0 1 3 18 0 22
Illumina Clinical Services Laboratory,Illumina 0 0 9 1 2 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 6 3 0 0 12
Ambry Genetics 3 3 3 0 0 0 9
Baylor Genetics 2 2 4 0 0 0 8
OMIM 6 0 0 0 0 0 6
GeneReviews 6 0 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 4 1 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 3 0 1 0 0 0 4
Mendelics 0 0 0 2 1 0 3
SIB Swiss Institute of Bioinformatics 3 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 0 0 0 3
ISCA site 7 0 0 0 0 2 0 2
ISCA site 8 0 0 0 0 2 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 1 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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