ClinVar Miner

Variants studied for Congenital generalized lipodystrophy type 2

Coded as:
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 uncertain risk allele not provided total
23 7 32 7 8 5 15 83

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
BSCL2, HNRNPUL2-BSCL2 22 6 32 7 8 5 15 81
ACTL6B 0 1 0 0 0 0 0 1
BSCL2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
Illumina Laboratory Services, Illumina 0 0 23 7 6 0 0 36
GeneReviews 0 0 0 0 0 0 15 15
OMIM 14 0 0 0 0 0 0 14
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 2 0 0 5 0 7
Mendelics 5 1 0 0 0 0 0 6
Laboratory of Metabolic Disorders, Peking University First Hospital 3 1 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 1 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
Sarem Hospital Central Laboratory, Iran University of Medical Science (IUMS) 0 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.