ClinVar Miner

Variants studied for autoinflammatory syndrome with skin involvement

Included ClinVar conditions (30):
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 risk factor not provided total
119 12 765 279 213 4 285 1503

Gene and significance breakdown #

Total genes and gene combinations: 19
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NLRP3 11 1 65 44 26 0 98 207
NLRP12 14 1 121 52 33 0 0 204
NOD2 13 0 109 65 25 4 0 194
LPIN2 7 2 141 33 19 0 8 191
MVK 16 4 40 14 6 0 90 143
PLCG2 3 0 85 12 35 0 0 134
TNFRSF1A 17 4 26 3 4 0 85 118
PSTPIP1 6 0 46 34 26 0 3 94
NLRC4 1 0 48 6 9 0 0 63
IL1RN 4 0 32 6 15 0 0 53
PSMB8 6 0 28 5 8 0 0 44
STING1 4 0 24 2 5 0 0 35
MMAB, MVK 0 0 0 3 2 0 1 6
ADA2 4 0 0 0 0 0 0 4
PSMB4 4 0 0 0 0 0 0 4
MEFV 3 0 0 0 0 0 0 3
POMP 3 0 0 0 0 0 0 3
PSMA3 2 0 0 0 0 0 0 2
PSMB9 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 34 9 518 77 159 4 0 801
Illumina Clinical Services Laboratory,Illumina 2 0 238 208 55 0 0 503
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 284 284
OMIM 77 0 1 0 0 0 0 78
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 18 0 0 0 0 18
Department of Immunology,Hospital Universitario Virgen del Rocio 17 0 0 0 0 0 0 17
Fulgent Genetics,Fulgent Genetics 3 0 6 1 0 0 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 3 4 0 0 8
GeneReviews 4 0 0 0 2 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 3 2 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 0 3
Undiagnosed Diseases Network,NIH 1 0 2 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 1 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 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.