ClinVar Miner

Variants in gene MTOR

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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
19 27 303 283 97 9 712

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 5 5 288 280 93 5 667
Smith-Kingsmore syndrome 6 3 7 1 0 1 18
Focal cortical dysplasia type II 8 0 5 0 0 0 13
not specified 0 0 7 1 5 0 13
CEBALID syndrome 6 5 0 0 0 0 11
Renal cell carcinoma, papillary, 1 1 9 0 1 0 0 11
Glioblastoma 0 7 0 0 0 0 7
Breast neoplasm 0 6 0 0 0 0 6
Inborn genetic diseases 2 0 4 0 0 0 6
Malignant neoplasm of body of uterus 0 5 0 0 0 0 5
Kidney Carcinoma 0 4 0 0 0 0 4
Malignant melanoma of skin 0 3 0 0 0 0 3
Neoplasm of the large intestine 0 3 0 0 0 0 3
Neoplasm of uterine cervix 0 3 0 0 0 0 3
Papillary renal cell carcinoma, sporadic 0 3 0 0 0 0 3
Adenocarcinoma of stomach 0 2 0 0 0 0 2
Focal cortical dysplasia type II; Smith-Kingsmore syndrome 0 0 1 0 0 1 2
Melanoma 0 0 0 0 0 2 2
Transitional cell carcinoma of the bladder 0 2 0 0 0 0 2
Hemimegalencephaly 1 0 0 0 0 0 1
Intellectual disability 0 0 0 1 0 0 1
Intellectual disability, severe 1 0 0 0 0 0 1
MTOR-related megalencephaly and pigmentary mosaicism in skin 1 0 0 0 0 0 1
Macrocephalus 0 1 0 0 0 0 1
Metastatic pancreatic neuroendocrine tumours 0 1 0 0 0 0 1
Rare genetic intellectual disability 1 0 0 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 0 272 275 93 0 643
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 13 10 0 0 26
Database of Curated Mutations (DoCM) 0 14 0 0 0 2 16
GeneDx 2 3 5 1 4 0 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 5 0 0 0 0 11
OMIM 10 0 0 0 0 0 10
Baylor Genetics 2 0 5 0 0 0 7
Ambry Genetics 2 0 4 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 2 0 0 0 5
James Howe Lab,University of Iowa Hospital and Clinics 0 0 0 0 0 4 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Mendelics 1 0 0 1 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Heinzen Lab,Columbia University 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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