ClinVar Miner

Variants in gene PIK3CA

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Minimum submission review status: Collection method:
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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 drug response not provided total
80 74 596 651 66 1 15 1393

Condition and significance breakdown #

Total conditions: 74
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Inborn genetic diseases 5 1 288 435 0 0 0 729
Cowden syndrome 19 4 264 296 19 0 0 602
not provided 44 11 77 53 60 0 0 227
PIK3CA related overgrowth syndrome 33 24 1 0 0 0 0 56
PIK3CA-related disorder 6 7 16 11 1 0 0 41
Megalencephaly-capillary malformation-polymicrogyria syndrome 25 15 4 0 0 0 1 39
Cowden syndrome 5 12 1 8 2 12 0 0 35
Hereditary cancer-predisposing syndrome 0 0 8 13 0 0 0 21
not specified 0 0 6 4 9 0 3 20
CLOVES syndrome 12 7 0 0 0 0 3 16
Ovarian neoplasm 9 7 0 0 0 0 0 14
Cowden syndrome 1 1 1 1 8 2 0 0 13
Familial cancer of breast; Hemifacial myohyperplasia; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; CLAPO syndrome; CLOVES syndrome; Ovarian cancer; Cerebral cavernous malformation 4; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer 0 0 13 0 0 0 0 13
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 4 2 2 2 2 0 0 12
Abnormal cardiovascular system morphology 11 0 0 0 0 0 0 11
Angioosteohypertrophic syndrome 4 4 0 0 0 0 0 7
CLAPO syndrome 6 0 1 0 0 0 0 7
Non-small cell lung carcinoma 5 2 0 0 0 0 0 7
Familial cancer of breast 0 1 0 0 0 0 4 5
Breast adenocarcinoma 4 0 0 0 0 0 0 4
Carcinoma of colon 4 0 0 0 0 0 0 4
Rare venous malformation 0 4 0 0 0 0 0 4
Segmental undergrowth associated with mainly venous malformation with capillary component 3 1 0 0 0 0 0 4
Squamous cell lung carcinoma 0 1 3 0 0 0 0 4
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC 3 0 0 0 0 0 0 3
Capillary malformation 3 0 0 0 0 0 0 3
Cerebrofacial Vascular Metameric Syndrome (CVMS) 3 0 0 0 0 0 0 3
Epidermal nevus 2 0 1 0 0 0 0 3
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 1 0 2 0 0 0 0 3
Gastric cancer 3 0 0 0 0 0 0 3
HEMIFACIAL MYOHYPERPLASIA, SOMATIC 3 0 0 0 0 0 0 3
Hepatocellular carcinoma 3 0 0 0 0 0 0 3
Lip and oral cavity carcinoma 3 0 0 0 0 0 0 3
OVARIAN CANCER, EPITHELIAL, SOMATIC 3 0 0 0 0 0 0 3
Rare combined vascular malformation 0 3 0 0 0 0 0 3
See cases 0 3 0 0 0 0 0 3
Segmental undergrowth associated with lymphatic malformation 3 0 0 0 0 0 0 3
Abnormal cerebral morphology 2 0 0 0 0 0 0 2
Colorectal cancer 2 0 0 0 0 0 0 2
Endometrial carcinoma 0 1 0 0 0 0 1 2
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer 1 0 1 0 0 0 0 2
MACRODACTYLY, SOMATIC 2 0 0 0 0 0 0 2
PIK3CA overgrowth syndrome 2 0 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 0 2 2
Seborrheic keratosis 2 0 0 0 0 0 0 2
Arteriovenous malformation 0 1 0 0 0 0 0 1
Breast carcinoma 1 0 0 0 0 0 0 1
Capillary malformation-arteriovenous malformation 1 0 1 0 0 0 0 0 1
Cavernous lymphangioma 0 1 0 0 0 0 0 1
Cerebral cavernous malformation 4 0 0 1 0 0 0 0 1
Congenital macrodactylia 1 0 0 0 0 0 0 1
Corpus callosum, agenesis of; Seizure; Focal-onset seizure; Ectopic tissue 0 0 1 0 0 0 0 1
Eccrine angiomatous hamartoma 1 0 0 0 0 0 0 1
Gallbladder cancer 1 0 0 0 0 0 0 1
Global developmental delay; Hypospadias; Macrocephaly 1 0 0 0 0 0 0 1
Glycogen storage disease, type II 0 1 0 0 0 0 0 1
Hemihypertrophy 1 0 0 0 0 0 0 1
Histone Methylation Therapy response 0 0 0 0 0 1 0 1
Hypertelorism; Megalencephaly, autosomal dominant; Diaphragmatic eventration; Abnormality of the hairline; Intestinal duplication 1 0 0 0 0 0 0 1
Keratoacanthoma 1 0 0 0 0 0 0 1
Klippel-Trenaunay-like-Syndrome 1 0 0 0 0 0 0 1
Klippel-Trénaunay syndrome 0 1 0 0 0 0 0 1
Lymphatic malformation 1 0 0 0 0 0 0 1
Macrodactyly of toe; Stroke disorder 1 0 0 0 0 0 0 1
Malignant tumor of urinary bladder 1 0 0 0 0 0 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome; Noonan syndrome 8 1 0 0 0 0 0 0 1
Overgrowth; Facial asymmetry; Hemimegalencephaly 0 0 1 0 0 0 0 1
PIK3C1-related disorder 1 0 0 0 0 0 0 1
PIK3CA-Related Overgrowth Spectrum Disorders 1 0 0 0 0 0 0 1
PIK3CA-related overgrowth 0 0 0 0 0 0 1 1
Polycystic kidney disease 0 0 1 0 0 0 0 1
Prostate cancer 0 1 0 0 0 0 0 1
Rhabdomyosarcoma 0 0 0 0 0 0 1 1
Rosette-forming glioneuronal tumor 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 112
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Ambry Genetics 5 1 288 435 0 0 0 729
Labcorp Genetics (formerly Invitae), Labcorp 19 4 264 300 19 0 0 606
GeneDx 31 4 58 21 59 0 0 173
CeGaT Center for Human Genetics Tuebingen 11 1 10 23 1 0 0 46
Clinical Genomics Laboratory, Washington University in St. Louis 25 18 2 0 0 0 0 45
PreventionGenetics, part of Exact Sciences 5 6 15 13 5 0 0 44
Breakthrough Genomics, Breakthrough Genomics 0 0 1 9 26 0 0 36
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 27 3 1 0 0 0 0 31
OMIM 23 0 0 0 0 0 0 23
Mendelics 1 1 9 8 2 0 0 21
Fulgent Genetics, Fulgent Genetics 2 0 16 0 0 0 0 18
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 12 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 2 2 1 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 13 0 0 0 0 0 0 13
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 13 0 0 0 13
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 6 7 0 0 0 0 0 13
MAGI's Lab - Research, MAGI Group 11 1 0 0 0 0 0 12
3billion 7 5 0 0 0 0 0 12
ClinGen Brain Malformations Variant Curation Expert Panel 4 1 2 2 2 0 0 11
Care4Rare-SOLVE, CHEO 8 2 0 0 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 5 4 0 0 10
Institute of Tissue Medicine and Pathology, University of Bern 0 10 0 0 0 0 0 10
Clinical Genetics, Academic Medical Center 0 0 0 3 6 0 0 9
Baylor Genetics 4 0 3 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 3 1 0 0 0 7
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 7 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 0 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 4 0 0 6
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz 5 1 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 3 0 0 5
GeneReviews 1 0 0 0 0 0 4 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 0 5
Medical Genetics Laboratory, Aldo Moro University of Bari 5 0 0 0 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 2 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 0 4
Eurofins Ntd Llc (ga) 0 1 2 0 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 3 1 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 0 4
Institute of Medical Sciences, Banaras Hindu University 4 0 0 0 0 0 0 4
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 1 3 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 3
Illumina Laboratory Services, Illumina 2 1 0 0 0 0 0 3
ITMI 0 0 0 0 0 0 3 3
Genetics and Personalized Medicine Clinic, Tartu University Hospital 3 0 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 1 0 0 0 0 3
James Bennett Lab, Seattle Childrens Research Institute 3 0 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 0 0 1 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 1
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere 0 1 0 0 0 0 0 1
Department of Medical Genetics, University of Szeged 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Precision Medicine Oncology, Rutgers Cancer Institute of New Jersey 0 1 0 0 0 0 0 1
Genomics For Life 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Biesecker Lab Rare Disease, National Institutes of Health 1 0 0 0 0 0 0 1
Center of Human Genetics, Erasme Hospital 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Ladle Lab, Johns Hopkins University 0 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Davare Laboratory, Oregon Health & Science University 0 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Developmental Brain Disorders Lab, Seattle Children's Hospital 1 0 0 0 0 0 0 1
Medical Oncology, Institut Jules Bordet 1 0 0 0 0 0 0 1
Laboratory of Urology, Hospital Clinic de Barcelona 1 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 1

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