ClinVar Miner

Variants in gene LIPA

See also:
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 not provided total
70 93 228 284 48 2 630

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wolman disease 59 27 126 256 16 0 469
Lysosomal acid lipase deficiency 18 74 75 17 17 2 185
not provided 15 4 47 13 30 0 104
Cardiovascular phenotype 1 0 40 57 4 0 102
not specified 0 0 3 6 10 0 16
Inborn genetic diseases 0 0 14 0 0 0 14
Cholesteryl ester storage disease 4 0 0 0 0 0 4
LIPA-related condition 1 0 2 0 0 0 3
LIPA-Related Disorders 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 19 90 252 16 0 436
Ambry Genetics 1 0 54 57 4 0 116
Illumina Laboratory Services, Illumina 1 0 57 8 8 0 67
Eurofins Ntd Llc (ga) 7 0 45 3 4 0 59
Natera, Inc. 11 1 22 12 7 0 53
GeneDx 4 0 2 10 30 0 46
Alexion Pharmaceuticals, Inc 0 39 0 0 0 0 39
Counsyl 4 14 10 1 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 3 3 0 0 16
Myriad Genetics, Inc. 2 14 0 0 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 1 1 3 2 3 0 10
OMIM 8 0 0 0 0 0 8
Revvity Omics, Revvity Omics 7 1 0 0 0 0 8
Preventiongenetics, part of Exact Sciences 1 0 2 0 5 0 8
Fulgent Genetics, Fulgent Genetics 4 0 4 0 0 0 8
Genome-Nilou Lab 0 0 1 0 7 0 8
Clinical Genetics, Academic Medical Center 1 1 0 1 2 0 5
New York Genome Center 0 0 4 0 0 0 4
Suma Genomics 1 2 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 1 0 0 2 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 2 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 2 0 0 0 3
Mendelics 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Medical Molecular Genetics Department, National Research Center 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 1 0 2
Baylor Genetics 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 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.