ClinVar Miner

Variants in gene APOL1

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 drug response established risk allele likely risk allele risk factor total
3 2 74 56 50 1 1 2 7 168

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele likely risk allele risk factor total
not provided 0 0 45 40 50 0 0 0 1 128
not specified 0 0 27 8 15 0 0 1 0 51
Focal segmental glomerulosclerosis 4, susceptibility to 0 2 10 11 0 0 0 1 4 27
APOL1-related disorder 0 0 1 9 8 0 0 0 0 18
Hyalinosis, Segmental Glomerular 0 0 0 0 0 0 0 0 5 5
Focal segmental glomerulosclerosis 3 0 0 0 0 0 0 0 0 3
Nephrotic range proteinuria 3 0 0 0 0 0 0 0 0 3
APOL1-associated kidney disease 0 0 2 0 0 0 0 0 0 2
Focal segmental glomerulosclerosis; Sickled erythrocytes 2 0 0 0 0 0 0 0 0 2
Focal segmental glomerulosclerosis; Steroid-resistant nephrotic syndrome 2 0 0 0 0 0 0 0 0 2
Glomerulonephritis 2 0 0 0 0 0 0 0 0 2
Proteinuria 2 0 0 0 0 0 0 0 0 2
Corticosteroids response 0 0 0 0 0 1 0 0 0 1
Focal segmental glomerulosclerosis, susceptibility to 0 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele likely risk allele risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 44 29 22 0 0 0 0 95
GeneDx 0 0 0 8 37 0 0 0 1 46
Breakthrough Genomics, Breakthrough Genomics 0 0 2 6 29 0 0 0 0 37
Ambry Genetics 0 0 27 7 0 0 0 0 0 34
PreventionGenetics, part of Exact Sciences 0 0 1 9 8 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 0 7 11 0 0 0 0 0 18
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 11 0 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 2 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 3 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 0 0 5 6
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 3 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 2 0 0 0 1 0 0 5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 0 0 0 0 0 3 3
Mendelics 0 0 0 0 1 0 0 2 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 3 0 0 0 0 0 0 0 0 3
OMIM 0 0 0 0 0 0 0 0 2 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 0 0 0 1
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 0 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.