ClinVar Miner

Variants studied for generalized lipodystrophy

Included ClinVar conditions (11):
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 likely risk allele uncertain risk allele not provided total
64 17 176 55 37 1 7 31 356

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 likely risk allele uncertain risk allele not provided total
AGPAT2 24 8 69 19 14 1 2 16 136
BSCL2, HNRNPUL2-BSCL2 22 7 58 17 8 0 5 15 117
CAVIN1 10 2 44 14 13 0 0 0 83
CAV1 4 0 4 5 2 0 0 0 15
PCYT1A 2 0 0 0 0 0 0 0 2
BSCL2 1 0 0 0 0 0 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 1 0 0 0 0 0 1
LOC126806932, PCYT1A 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Illumina Laboratory Services, Illumina 1 0 113 35 31 0 0 0 180
Fulgent Genetics, Fulgent Genetics 6 2 51 23 1 0 0 0 83
OMIM 40 0 0 0 0 0 0 0 40
GeneReviews 1 0 0 0 0 0 0 31 32
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 4 0 0 1 7 0 12
Revvity Omics, Revvity 1 0 10 0 0 0 0 0 11
New York Genome Center 0 0 11 0 0 0 0 0 11
Mendelics 8 1 0 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 6 0 0 0 0 0 0 7
Laboratory of Metabolic Disorders, Peking University First Hospital 5 1 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 1 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 2
3billion 1 0 1 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
Department of Gastroenterology, HwaMei Hospital, University of Chinese Academy of Sciences 1 0 0 0 0 0 0 0 1
Sarem Hospital Central Laboratory, Iran University of Medical Science (IUMS) 0 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 0 1

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