ClinVar Miner

Variants studied for autoinflammatory syndrome with skin involvement

Included ClinVar conditions (34):
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 association risk factor not provided total
151 31 1854 676 466 8 1 366 3194

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
NLRP12 10 2 304 92 72 0 0 1 441
NOD2 15 1 245 106 88 3 1 80 440
LPIN2 15 5 262 78 49 0 0 8 379
PLCG2 3 0 220 102 53 0 0 0 375
NLRP3 17 6 152 71 57 0 0 98 349
PSTPIP1 6 0 132 58 59 0 0 3 229
MVK 30 9 94 35 13 0 0 90 227
TNFRSF1A 17 6 101 34 14 0 0 85 213
NLRC4 2 0 137 44 16 0 0 0 198
STING1 4 0 70 20 10 0 0 0 104
IL1RN 5 1 63 18 19 0 0 0 101
PSMB8 7 1 67 13 12 0 0 0 96
MMAB, MVK 0 0 1 2 4 0 0 1 8
PSMB4 4 0 1 0 0 0 0 0 5
ADA2 4 0 0 0 0 0 0 0 4
IL18R1 0 0 0 0 0 3 0 0 3
MEFV 3 0 0 0 0 0 0 0 3
POMP 3 0 0 0 0 0 0 0 3
SCNN1A, TNFRSF1A 0 0 0 3 0 0 0 0 3
MLKL 0 0 0 0 0 2 0 0 2
NLRP3, OR2B11 0 0 2 0 0 0 0 0 2
PSMA3 2 0 0 0 0 0 0 0 2
PSMG2 2 0 0 0 0 0 0 0 2
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH 0 0 1 0 0 0 0 0 1
MYADM, NLRP12, PRKCG 0 0 1 0 0 0 0 0 1
NFKBIA 0 0 1 0 0 0 0 0 1
PSMB10 1 0 0 0 0 0 0 0 1
PSMB9 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 64 23 1443 542 238 3 1 0 2314
Illumina Clinical Services Laboratory,Illumina 3 0 384 112 293 0 0 0 792
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 364 364
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 36 46 50 0 0 0 134
OMIM 80 0 1 0 0 0 0 0 81
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 29 0 0 0 0 0 30
Baylor Genetics 3 0 15 0 0 0 0 0 18
Department of Immunology,Hospital Universitario Virgen del Rocio 17 0 0 0 0 0 0 0 17
Mendelics 1 1 4 1 5 0 0 0 12
Fulgent Genetics,Fulgent Genetics 3 0 6 1 0 0 0 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 3 4 0 0 0 8
GeneReviews 4 0 0 0 2 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 3 2 0 0 0 6
Undiagnosed Diseases Network,NIH 1 0 3 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 0 0 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 1 0 0 0 0 0 3
Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute,The First Affiliated Hospital of Chongqing Medical University 0 0 0 0 0 3 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 1 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 0 0 2
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 1 0 0 0 0 0 2
Geng Laboratory,The Second Hospital Affiliated to Xi’an Jiaotong University 0 0 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 2
Vinuesa Lab,Australian National University 0 0 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Experimental and Health Sciences Department,Universitat Pompeu Fabra 0 0 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 0 0 1

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