ClinVar Miner

Variants in gene TERT

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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 association risk factor not provided total
69 21 705 425 53 2 2 4 1189

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 23 3 634 363 29 0 0 0 1052
not provided 5 4 13 72 1 0 0 1 95
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 15 3 26 9 36 0 0 0 87
Dyskeratosis congenita, autosomal dominant, 2 6 2 53 13 13 0 0 0 86
Aplastic anemia 11 0 43 13 13 0 0 2 77
not specified 0 1 27 26 16 0 0 0 64
Idiopathic Pulmonary Fibrosis 8 0 3 3 2 0 0 0 15
Dyskeratosis congenita, autosomal dominant 1 8 0 0 0 5 0 0 0 13
Dyskeratosis congenita 3 3 0 1 0 0 0 0 7
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 Pulmonary Fibrosis; 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 1 1 1 0 0 0 0 0 3
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-predisposing syndrome 0 0 2 0 0 0 0 0 2
Breast carcinoma 0 0 0 1 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, Recessive 0 0 0 1 0 0 0 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
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 0 0 1
Inherited Immunodeficiency Diseases 1 0 0 0 0 0 0 0 1
Interstitial pulmonary abnormality; Short telomere length 0 1 0 0 0 0 0 0 1
Leukemia, acute myeloid, susceptibility to 0 0 0 0 0 0 1 0 1
Macrocytic anemia; Premature graying of hair; Interstitial pulmonary abnormality; Short telomere length 0 1 0 0 0 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 0 1
Myelodysplasia 0 1 0 0 0 0 0 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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 23 3 634 407 30 0 0 0 1097
Illumina Clinical Services Laboratory,Illumina 0 0 44 17 36 0 0 0 70
Genetic Services Laboratory, University of Chicago 2 6 17 12 3 0 0 0 40
GeneReviews 29 0 0 0 5 0 0 0 34
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 9 7 11 0 0 0 28
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
Johns Hopkins Genomics, Johns Hopkins University 1 3 2 3 0 0 0 0 9
Baylor Genetics 0 0 8 0 0 0 0 0 8
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
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 1 2 0 0 0 0 5
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
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 3 0 0 0 0 0 4
Godley laboratory, The University of Chicago 1 3 0 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 1 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 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
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 0 0 1

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