ClinVar Miner

Variants studied for familial partial lipodystrophy

Included ClinVar conditions (17):
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
47 33 148 32 29 3 281

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LMNA 19 12 117 24 13 3 183
PPARG 12 10 9 4 9 0 40
PLIN1 4 2 4 0 4 0 14
LMNA, LOC126805877 1 0 7 2 1 0 11
LIPE, LOC101930071 3 2 4 0 0 0 8
LOC114803475, PPARG 2 4 1 1 0 0 8
LMNA, LOC129931597 0 1 3 1 1 0 6
PLAAT3 3 0 0 0 0 0 3
CIDEC 1 0 0 0 1 0 2
LIPE 0 1 2 0 0 0 2
ADRA2A 1 0 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 0 1
LOC125146351, PLIN1 0 0 1 0 0 0 1
LOC130057886, PLIN1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 5 3 90 21 3 0 122
Illumina Laboratory Services, Illumina 0 1 36 11 22 0 70
OMIM 30 0 0 0 0 0 30
Genetic Services Laboratory, University of Chicago 9 8 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 3 7 4 0 0 0 14
New York Genome Center 1 0 8 0 0 0 9
Baylor Genetics 0 2 4 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 2 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 2 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 1 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Centro De Biociências, Universidade Federal do Rio Grande do Norte 2 0 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1

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