ClinVar Miner

Variants studied for arthropathy

Included ClinVar conditions (13):
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 affects association risk factor total
13 3 118 12 99 1 12 9 267

Gene and significance breakdown #

Total genes and gene combinations: 22
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor total
ANKH, OTULIN 0 0 95 8 68 0 0 0 171
ANKH 4 1 17 3 22 0 0 0 47
ANKH, LOC100130744, OTULIN 1 0 0 1 9 0 0 0 11
PADI4 0 0 0 0 0 0 6 0 6
CIITA 0 0 4 0 0 0 0 1 5
PADI2 0 0 0 0 0 0 4 0 4
SYK 1 2 1 0 0 0 0 0 4
FRZB 0 0 1 0 0 0 0 2 3
TLR1 2 0 0 0 0 0 0 0 2
TLR8 0 0 0 0 0 0 2 0 2
AP4B1, PTPN22 0 0 0 0 0 0 0 1 1
CD244 0 0 0 0 0 0 0 1 1
CHRNG 1 0 0 0 0 0 0 0 1
CPT2 1 0 0 0 0 0 0 0 1
HLA-B 0 0 0 0 0 0 0 1 1
IRF5 1 0 0 0 0 0 0 0 1
NFKBIL1 0 0 0 0 0 0 0 1 1
RELN 1 0 0 0 0 0 0 0 1
SH3PXD2B 1 0 0 0 0 0 0 0 1
SLC22A4 0 0 0 0 0 0 0 1 1
SOCS1 0 0 0 0 0 1 0 0 1
SUPT20H 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 111 12 99 0 0 0 222
OMIM 6 0 0 0 0 0 0 8 14
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 0 8 0 8
Department of Zoology,University of the Punjab, Lahore 0 0 0 0 0 0 4 0 4
Aleixo Muise Laboratory, The Hospital for Sick Children 1 2 1 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 0 3
Institute of Biochemistry and Biotechnology,Faculty of Life Sciences, University of the Punjab 3 0 0 0 0 0 0 0 3
Baylor Genetics 0 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 0 1
GenHotel - European Research Laboratory for Rheumatoid Arthritis,University of Paris Saclay 0 0 0 0 0 0 0 1 1
Human Genetics Department,Tarbiat Modares University 1 0 0 0 0 0 0 0 1
Centro Nacional de Biotecnologia,Consejo Superior de Investigaciones Cientificas 0 0 0 0 0 1 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.