ClinVar Miner

Variants studied for Kleefstra syndrome 2

Coded as:
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
29 30 184 20 4 3 263

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KMT2C 27 30 179 17 4 3 253
KMT2C, LOC123956272 0 0 3 2 0 0 5
​intergenic 0 0 0 1 0 0 1
ABCF2, AGAP3, ASB10, ASIC3, CDK5, CHPF2, CRYGN, FASTK, GALNT11, GALNTL5, GBX1, KMT2C, MIR671, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86, XRCC2 1 0 0 0 0 0 1
GALNT11, KMT2C, LOC123956272, LOC126860227, LOC129389938, LOC129999675 1 0 0 0 0 0 1
KMT2C, LINC01003, LOC123956272, LOC123956273, LOC129389938, LOC129999676, LOC129999677, LOC129999678, LOC129999679, LOC129999680, LOC129999681, LOC129999682, LOC129999683, LOC129999684 0 0 1 0 0 0 1
KMT2C, LOC129999681 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 0 2 59 0 0 0 61
New York Genome Center 1 0 27 0 0 0 28
Fulgent Genetics, Fulgent Genetics 0 1 7 10 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 11 1 0 0 16
Baylor Genetics 1 3 10 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 2 2 7 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 5 2 0 11
3billion 0 4 2 3 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 7
OMIM 5 0 0 0 0 0 5
MGZ Medical Genetics Center 1 1 3 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 1 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 2 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 2 1 0 0 0 3
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Mendelics 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 1
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1
Genetics Laboratory, The Affiliated Women's and Children's Hospital of Qingdao University 1 0 0 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.