ClinVar Miner

Variants studied for arthropathy

Included ClinVar conditions (18):
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 not provided total
14 6 144 14 100 1 12 6 1 296

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 affects association risk factor not provided total
ANKH, OTULIN 0 0 95 8 68 0 0 0 0 171
ANKH 5 1 13 3 21 0 0 0 0 43
CIITA 0 1 25 0 1 0 0 1 0 28
ANKH, LOC100130744, OTULIN 1 0 0 3 9 0 0 0 0 11
PADI4 0 0 0 0 0 0 6 0 0 6
ANKH, LOC129993725 0 0 4 0 1 0 0 0 0 5
PADI2 0 0 0 0 0 0 4 0 0 4
SYK 1 2 1 0 0 0 0 0 0 4
AP4B1, PTPN22 0 0 1 0 0 0 0 1 0 2
CUL9 0 0 2 0 0 0 0 0 0 2
TLR1 2 0 0 0 0 0 0 0 0 2
TLR8 0 0 0 0 0 0 2 0 0 2
CD244 0 0 0 0 0 0 0 1 0 1
CHRNG 1 0 0 0 0 0 0 0 0 1
COL2A1 0 0 0 0 0 0 0 0 1 1
CPT2, LOC129930561 1 0 0 0 0 0 0 0 0 1
CR1 0 0 1 0 0 0 0 0 0 1
DOCK1 0 1 0 0 0 0 0 0 0 1
FRZB 0 0 1 0 0 0 0 0 0 1
HGSNAT 0 1 0 0 0 0 0 0 0 1
IL10, IL19 1 0 0 0 0 0 0 0 0 1
IL10, IL19, LOC128462409 0 0 1 0 0 0 0 0 0 1
IRF5 1 0 0 0 0 0 0 0 0 1
NFKBIL1 0 0 0 0 0 0 0 1 0 1
RELN 1 0 0 0 0 0 0 0 0 1
SLC22A4 0 0 0 0 0 0 0 1 0 1
SOCS1 0 0 0 0 0 1 0 0 0 1
SUPT20H 0 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 111 12 99 0 0 0 0 222
Fulgent Genetics, Fulgent Genetics 0 0 17 2 2 0 0 0 0 21
OMIM 7 0 0 0 0 0 0 5 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 0 0 0 10
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 0 8 0 0 8
Department of Zoology, University of the Punjab, Lahore 0 0 0 0 0 0 4 0 0 4
Aleixo Muise Laboratory, Hospital For Sick Children 1 2 1 0 0 0 0 0 0 4
Institute of Biochemistry and Biotechnology, Faculty of Life Sciences, University of the Punjab 3 0 0 0 0 0 0 0 0 3
Mendelics 1 1 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 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 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 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 0 1
Human Genetics Department, Tarbiat Modares University 1 0 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 0 0 1
Centro Nacional de Biotecnologia, Consejo Superior de Investigaciones Cientificas 0 0 0 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 0 0 0 0 1

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