Variants studied for familial partial lipodystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
52	44	207	33	29	3	351

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	24	21	161	25	13	3	238
PPARG	12	10	11	4	9	0	42
PLIN1	4	2	9	0	4	0	19
LMNA, LOC126805877	1	1	9	2	1	0	13
LMNA, LOC129931597	0	1	7	1	1	0	10
LIPE, LOC101930071	3	2	5	0	0	0	8
LOC114803475, PPARG	2	4	1	1	0	0	8
CIDEC	1	0	1	0	1	0	3
PLAAT3	3	0	0	0	0	0	3
LIPE	0	1	2	0	0	0	2
LOC125146351, PLIN1	0	1	1	0	0	0	2
ADRA2A	1	0	0	0	0	0	1
BSCL2, HNRNPUL2-BSCL2	0	1	0	0	0	0	1
LOC130057886, PLIN1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 40

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	11	12	140	22	3	0	188
Illumina Laboratory Services, Illumina	0	1	35	11	22	0	69
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	8	3	0	0	0	14
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	9	0	0	0	11
New York Genome Center	1	0	8	0	0	0	9
Baylor Genetics	0	2	4	0	0	0	6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	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
3billion	0	1	3	0	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	0	0	3
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	3	0	0	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	1	0	0	1	0	3
Molecular Genetics, Royal Melbourne Hospital	0	1	2	0	0	0	3
Revvity Omics, Revvity	0	0	2	0	0	0	2
Mendelics	2	0	0	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
Clinical Genomics Laboratory, Stanford Medicine	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	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
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	1	0	0	0	1
Genetics Department, Polish Mother's Memorial Hospital Research Institute	0	1	0	0	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	1	0	0	0	0	1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital	0	1	0	0	0	0	1
Suma Genomics	0	1	0	0	0	0	1

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