ClinVar Miner

Variants studied for congenital generalized lipodystrophy

Included ClinVar conditions (10):
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
60 12 173 55 37 34 345

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGPAT2 23 6 68 19 14 16 132
BSCL2, HNRNPUL2-BSCL2 23 5 56 17 8 15 112
CAVIN1 9 1 44 14 13 0 81
CAV1 4 0 4 5 2 0 15
PCYT1A 0 0 0 0 0 2 2
BSCL2 1 0 0 0 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 1 0 0 0 1
LOC126806932, PCYT1A 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 113 35 31 0 180
Fulgent Genetics, Fulgent Genetics 6 2 51 23 1 0 83
OMIM 37 0 0 0 0 3 40
GeneReviews 1 0 0 0 0 31 32
Revvity Omics, Revvity Omics 1 0 10 0 0 0 11
New York Genome Center 0 0 11 0 0 0 11
Mendelics 8 1 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
Laboratory of Metabolic Disorders, Peking University First Hospital 5 1 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 1 0 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 3 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 2
3billion 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Department of Gastroenterology, HwaMei Hospital, University of Chinese Academy of Sciences 1 0 0 0 0 0 1
Sarem Hospital Central Laboratory, Iran University of Medical Science (IUMS) 0 1 0 0 0 0 1

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