ClinVar Miner

Variants in gene TMEM127

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 risk factor not provided total
16 24 143 74 14 4 1 250

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary Paraganglioma-Pheochromocytoma Syndromes 11 2 99 23 7 0 0 142
Pheochromocytoma 1 19 41 36 3 0 0 97
Hereditary cancer-predisposing syndrome 5 1 27 20 2 0 0 55
not provided 3 2 2 2 4 0 1 14
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
Uveal melanoma 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 11 1 99 23 7 0 0 141
Illumina Clinical Services Laboratory,Illumina 0 0 40 34 3 0 0 77
Ambry Genetics 5 1 27 20 2 0 0 55
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
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1 0 0 2
PreventionGenetics 0 0 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.