Variants studied for autoimmune disorder of musculoskeletal system

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	affects	association	risk factor	total
5	1	27	0	1	1	10	6	51

Gene and significance breakdown #

Total genes and gene combinations: 14

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	affects	association	risk factor	total
CIITA	0	1	25	1	0	0	1	28
PADI4	0	0	0	0	0	6	0	6
PADI2	0	0	0	0	0	4	0	4
AP4B1, PTPN22	0	0	1	0	0	0	1	2
TLR1	2	0	0	0	0	0	0	2
CD244	0	0	0	0	0	0	1	1
CHRNG	1	0	0	0	0	0	0	1
IL10, IL19	1	0	0	0	0	0	0	1
IL10, IL19, LOC128462409	0	0	1	0	0	0	0	1
IRF5	1	0	0	0	0	0	0	1
NFKBIL1	0	0	0	0	0	0	1	1
SLC22A4	0	0	0	0	0	0	1	1
SOCS1	0	0	0	0	1	0	0	1
SUPT20H	0	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 11

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	benign	affects	association	risk factor	total
Fulgent Genetics, Fulgent Genetics	0	0	17	1	0	0	0	18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	10	0	0	0	0	10
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas	0	0	0	0	0	8	0	8
OMIM	2	0	0	0	0	0	5	7
Institute of Biochemistry and Biotechnology, Faculty of Life Sciences, University of the Punjab	3	0	0	0	0	0	0	3
Department of Zoology, University of the Punjab, Lahore	0	0	0	0	0	2	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	0	1
Mendelics	0	1	0	0	0	0	0	1
GenHotel - European Research Laboratory for Rheumatoid Arthritis, University of Paris Saclay	0	0	0	0	0	0	1	1
Centro Nacional de Biotecnologia, Consejo Superior de Investigaciones Cientificas	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.