ClinVar Miner

Variants in gene TERT

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Gene type:
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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 risk factor not provided total
60 16 461 324 53 2 2 5 837

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 16 1 392 236 29 0 0 0 674
not provided 5 3 12 69 1 0 0 1 91
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 15 3 25 9 34 0 0 0 83
Aplastic anemia 11 0 42 14 13 0 0 2 77
Dyskeratosis congenita, autosomal dominant, 2 4 2 41 12 12 0 0 0 70
not specified 0 0 27 26 13 0 0 1 62
Idiopathic fibrosing alveolitis, chronic form 8 0 3 5 2 0 0 0 17
Dyskeratosis congenita, autosomal dominant 1 8 0 0 0 5 0 0 0 13
Dyskeratosis congenita 3 4 0 0 0 0 0 0 7
Dyskeratosis Congenita, Recessive 0 0 0 4 0 0 0 0 4
Dyskeratosis congenita, autosomal recessive, 4 4 0 0 0 0 0 0 0 4
Hepatocellular carcinoma 2 0 2 0 0 0 0 0 4
Idiopathic fibrosing alveolitis, chronic form; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 0 0 4 0 0 0 0 0 4
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 0 0 2 0 0 0 0 0 2
Chronic osteomyelitis 0 0 0 0 0 2 0 0 2
Dyskeratosis congenita autosomal recessive 1 2 0 0 0 0 0 0 0 2
Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0 1 1 0 0 0 0 0 2
Hereditary Cancer Syndrome 0 0 2 0 0 0 0 0 2
Acute myeloid leukemia 0 1 0 0 0 0 0 0 1
Coronary artery disease, susceptibility to 0 0 1 0 0 0 0 0 1
Cutaneous malignant melanoma 9 0 0 0 0 0 0 1 0 1
Dyskeratosis congenita; Diffuse interstitial pulmonary fibrosis 0 1 0 0 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 0 0 1
Inherited Immunodeficiency Diseases 1 0 0 0 0 0 0 0 1
Leukemia, acute myeloid, susceptibility to 0 0 0 0 0 0 1 0 1
TERT-Related Disorders 0 0 1 0 0 0 0 0 1
TERT-associated disorder 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 17 1 392 304 30 0 0 0 744
Illumina Clinical Services Laboratory,Illumina 0 0 43 19 34 0 0 0 70
Genetic Services Laboratory, University of Chicago 2 7 17 14 0 0 0 0 40
GeneReviews 29 0 0 0 5 0 0 0 34
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 7 7 11 0 0 1 27
OMIM 18 0 1 0 0 0 2 0 21
PreventionGenetics,PreventionGenetics 0 0 0 13 8 0 0 0 21
GeneDx 4 2 6 1 1 0 0 0 14
Mendelics 0 0 4 2 2 0 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 4 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 4 0 0 0 7
Johns Hopkins Genomics,Johns Hopkins University 0 2 1 3 0 0 0 0 6
Degerman lab,Umeå University 2 2 1 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 0 0 4
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 2 0 2 0 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 1 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 0 3
Stem Cell Engineering Center,Hunan Guangxiu Hospital 3 0 0 0 0 0 0 0 3
Blueprint Genetics 0 0 2 0 0 0 0 0 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 0 2 2
Department of Orthopeadics and Traumatology,Nanfang Hospital 0 0 0 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 2 0 0 0 0 0 0 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 0 1

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