ClinVar Miner

Variants in gene KAT6A

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Minimum conflict level:
Gene type:

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 association not provided total
130 92 826 880 360 1 25 2050

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 67 26 588 795 353 0 0 1737
Inborn genetic diseases 20 2 158 175 27 0 0 381
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 59 52 78 14 1 0 3 200
KAT6A-related disorder 1 4 19 39 2 0 0 65
not specified 0 0 38 14 6 0 0 58
Intellectual disability 4 1 2 6 0 0 0 13
See cases 1 1 3 1 0 0 0 6
Autism spectrum disorder 1 2 0 0 0 0 0 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 3 3
Syndromic intellectual disability 2 1 0 0 0 0 0 3
Gastric cancer 0 0 0 0 0 0 2 2
KAT6A-related neurodevelopmental disorder with multiple anomalies 0 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 0 2 2
Neurodevelopmental disorder 1 1 0 0 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 2 2
Absent or delayed speech development; Borderline microcephaly; Developmental delay 0 0 1 0 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 0 1 1
Cervical cancer 0 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Congenital heart disease 0 1 0 0 0 0 0 1
Craniosynostosis syndrome 0 1 0 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 0 1 1
Global developmental delay 1 0 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 0 1 1
History of neurodevelopmental disorder 0 0 1 0 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 0 1 1
Neurodevelopmental abnormality 0 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1
Vein of Galen aneurysmal malformation 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 110
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 19 6 392 717 310 0 0 1444
GeneDx 48 12 177 68 87 0 0 392
Ambry Genetics 20 2 159 175 27 0 0 382
CeGaT Center for Human Genetics Tuebingen 4 4 27 70 4 0 0 109
PreventionGenetics, part of Exact Sciences 1 4 19 39 2 0 0 65
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 37 9 0 0 0 46
Breakthrough Genomics, Breakthrough Genomics 0 0 1 11 21 0 0 33
Revvity Omics, Revvity 4 1 22 0 0 0 0 27
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 20 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 2 1 1 0 0 0 18
Baylor Genetics 2 3 12 0 0 0 0 17
3billion 4 6 1 3 0 0 0 14
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 1 0 7 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 7 1 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 7 0 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 4 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 2 0 0 7
OMIM 7 0 0 0 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 4 0 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 4 0 1 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 1 4 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 4 1 0 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 4 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 2 0 1 0 0 0 4
Illumina Laboratory Services, Illumina 2 0 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 0 0 0 0 0 4
Mendelics 0 0 0 3 1 0 0 4
Variantyx, Inc. 3 1 0 0 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 2 1 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 2 0 0 0 3
Dasa 2 0 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 0 3 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 1 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 1 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 1 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 0 0 0 0 3
MGZ Medical Genetics Center 0 3 0 0 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 2 0 0 0 0 0 3
Center of Human Genetics, Hôpital Erasme 1 1 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 0 1 0 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Gene Friend Way, National Innovation Center 1 0 0 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 1
Human Genetics, University of Luebeck 0 0 1 0 0 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 1
Neonatology Unit, University Hospital of Modena 0 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1

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