ClinVar Miner

Variants in gene TERT

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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 association risk factor not provided total
47 12 246 190 36 2 2 5 492

Condition and significance breakdown #

Total conditions: 25
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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 4 0 206 166 30 0 0 0 406
not specified 0 0 26 26 13 0 0 1 60
Aplastic anemia 11 0 9 20 7 0 0 2 45
Idiopathic fibrosing alveolitis, chronic form 8 0 8 20 8 0 0 0 44
Dyskeratosis Congenita, Recessive 0 0 8 20 7 0 0 0 35
not provided 4 2 12 1 0 0 0 1 20
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 15 2 1 0 0 0 0 0 17
Dyskeratosis congenita autosomal dominant 8 0 0 0 5 0 0 0 13
Dyskeratosis congenita, autosomal dominant, 2 4 1 1 2 0 0 0 0 8
Dyskeratosis congenita 3 4 0 0 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 fibrosing alveolitis, chronic form; Aplastic anemia; Dyskeratosis congenita autosomal dominant; 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
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, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0 1 0 0 0 0 0 0 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita autosomal dominant; Dyskeratosis congenita, autosomal dominant, 2 0 1 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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 5 0 206 166 30 0 0 0 407
Genetic Services Laboratory, University of Chicago 2 7 17 14 0 0 0 0 40
Illumina Clinical Services Laboratory,Illumina 0 0 10 20 8 0 0 0 37
GeneReviews 29 0 0 0 5 0 0 0 34
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 6 6 10 0 0 1 24
OMIM 18 0 1 0 0 0 2 0 21
PreventionGenetics 0 0 0 13 8 0 0 0 21
GeneDx 4 2 6 1 1 0 0 0 14
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
Degerman lab,Umeå University 2 2 1 0 0 0 0 0 5
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
Stem Cell Engineering Center,Hunan Guangxiu Hospital 3 0 0 0 0 0 0 0 3
Mendelics 0 0 2 0 0 0 0 0 2
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 0 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
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 2 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 0 1

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