ClinVar Miner

Variants in gene EP300

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Minimum submission review status: Collection method:
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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 not provided total
170 119 1005 907 367 89 2257

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 96 52 392 513 259 3 1295
not provided 55 34 324 215 166 4 752
EP300-related disorder 7 6 248 338 14 0 613
Inborn genetic diseases 19 8 136 85 0 0 248
not specified 1 0 31 34 40 33 125
Menke-Hennekam syndrome 2 2 2 17 1 4 0 26
Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 1 0 8 7 1 0 17
Rubinstein-Taybi syndrome due to CREBBP mutations 2 5 4 4 0 0 15
Intellectual disability 2 0 2 7 1 0 12
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 0 4 5 0 0 0 9
Malignant tumor of esophagus 0 0 0 0 0 8 8
Neoplasm 1 2 5 0 0 0 8
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer 3 1 0 3 1 0 8
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 0 0 5 3 0 0 8
Gastric cancer 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Cervical cancer 0 0 0 0 0 6 6
See cases 1 1 1 1 2 0 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal carcinoma 2 0 1 0 0 0 3
Sarcoma 0 0 0 0 0 3 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Carcinoma of colon 2 0 0 0 0 0 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Colorectal cancer 2 0 0 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Microcephaly 2 0 0 0 0 0 2
Neurodevelopmental delay 0 2 0 0 0 0 2
Neurodevelopmental disorder 0 0 2 0 0 0 2
Rubinstein-Taybi syndrome 0 0 2 0 0 0 2
Atypical Rubinstein-Taybi 0 0 1 0 0 0 1
Autosomal dominant cerebellar ataxia 0 0 1 0 0 0 1
CHARGE syndrome 0 1 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Corpus callosum, agenesis of; Microcephaly; Epileptic encephalopathy 0 0 1 0 0 0 1
Embryonal rhabdomyosarcoma 0 1 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatoblastoma 0 0 1 0 0 0 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 1
Microcephaly; intellectual deficiency 0 1 0 0 0 0 1
Multicystic kidney dysplasia 0 0 1 0 0 0 1
Multiple congenital anomalies 0 0 0 0 0 1 1
Nasopharyngeal carcinoma 0 1 0 0 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Rubinstein-Taybi syndrome 0 1 0 0 0 0 1
Short stature; Hirsutism; Myopia; Synophrys; Moderate intellectual disability; Primary microcephaly; Hypotonia 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Thumb deformity; Global developmental delay; Micrognathia; Feeding difficulties; Facial grimacing 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 118
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 42 9 346 522 259 0 1178
PreventionGenetics, part of Exact Sciences 5 6 247 341 28 0 627
GeneDx 36 17 221 86 159 0 519
Ambry Genetics 19 8 136 85 0 0 248
CeGaT Center for Human Genetics Tuebingen 5 6 45 116 17 0 189
Breakthrough Genomics, Breakthrough Genomics 0 0 5 20 42 0 67
Eurofins Ntd Llc (ga) 2 1 26 10 25 0 64
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 52 52
Genetic Services Laboratory, University of Chicago 3 1 12 13 18 0 47
ITMI 1 0 0 0 0 33 34
3billion 7 9 6 3 0 0 25
Revvity Omics, Revvity 2 1 19 0 0 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 19 1 1 0 22
Fulgent Genetics, Fulgent Genetics 1 0 9 6 1 0 17
Mendelics 3 3 5 4 2 0 17
Wessex Regional Genetics Laboratory, Salisbury District Hospital 13 2 1 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 7 0 0 0 13
Baylor Genetics 3 2 7 0 0 0 12
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 2 0 8 0 0 11
OMIM 11 0 0 0 0 0 11
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 3 5 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 3 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 0 7 1 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 2 7 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 8 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 3 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 2 3 1 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 3 1 2 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 1 3 0 0 6
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 6 0 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 1 2 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 4 0 0 0 0 6
New York Genome Center 0 0 6 0 0 0 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 2 1 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 4 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 4
Dasa 1 1 2 0 0 0 4
Gansu Provincial Maternity and Child Care Hospital 1 3 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 4 0 0 0 4
Illumina Laboratory Services, Illumina 1 0 3 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 2 0 1 0 0 4
MVZ Martinsried, Medicover Genetics 1 2 1 0 0 0 4
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 4 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 2 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 2 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 1 0 1 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 1 0 3
Costain lab, The Hospital for Sick Children 0 0 0 0 0 3 3
Diagnostic Laboratory, Strasbourg University Hospital 2 0 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 2 1 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 2 0 0 0 3
MGZ Medical Genetics Center 0 0 3 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Department of Medical Genetics, Hunan Children's Hospital 2 0 0 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 1 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 0 1 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 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
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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