ClinVar Miner

Variants in gene KANSL1

See also:
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 total
32 10 181 297 248 686

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 18 6 24 46 188 277
Koolen-de Vries syndrome 17 4 117 67 40 241
not specified 0 0 3 199 26 228
Syndromic intellectual disability 0 0 38 26 17 81
Inborn genetic diseases 2 0 4 0 0 6
See cases 0 0 0 0 4 4
Premature ovarian failure 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 16 3 17 210 63 309
Invitae 4 0 108 94 43 249
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 1 129 130
Illumina Clinical Services Laboratory,Illumina 0 0 39 26 17 82
Athena Diagnostics Inc 0 0 1 2 18 21
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 6 1 0 10
OMIM 6 0 0 0 0 6
Ambry Genetics 2 0 4 0 0 6
GeneReviews 6 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 4 1 6
Baylor Genetics 1 2 2 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 4
Mendelics 0 0 0 2 1 3
SIB Swiss Institute of Bioinformatics 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
ISCA site 7 0 0 0 0 2 2
ISCA site 8 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.