ClinVar Miner

Variants in gene TMEM127

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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 risk factor not provided total
30 30 286 111 36 4 1 457

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary Paraganglioma-Pheochromocytoma Syndromes 24 8 198 68 7 0 0 305
Pheochromocytoma 4 20 74 13 28 0 0 133
Hereditary cancer-predisposing syndrome 7 4 72 45 2 0 0 130
not provided 3 2 3 18 4 0 1 31
not specified 0 0 0 6 2 0 0 7
Pheochromocytoma, susceptibility to 0 0 1 0 0 4 0 5
Acute myeloid leukemia 0 0 1 0 0 0 0 1
Acute promyelocytic leukemia 0 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1
Uveal melanoma 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 24 7 198 78 7 0 0 314
Ambry Genetics 7 4 72 45 2 0 0 130
Illumina Clinical Services Laboratory,Illumina 0 0 69 10 28 0 0 107
Familial Cancer Clinic,Veneto Institute of Oncology 0 19 0 0 0 0 0 19
GeneDx 3 1 1 8 3 0 0 16
OMIM 0 0 0 0 0 4 0 4
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 2 0 0 2
Mendelics 1 0 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 1 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 1
New York Genome Center 0 1 1 0 0 0 0 1

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