ClinVar Miner

Variants studied for bone inflammation disease

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 affects association risk factor not provided total
67 30 745 417 198 1 14 11 17 1438

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
LPIN2 23 15 379 310 57 0 0 0 11 746
COL1A1 14 9 132 26 16 0 0 0 5 198
IL1RN 9 1 87 65 24 0 0 0 0 179
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
COL1A1, LOC126862586 2 1 1 2 1 0 0 0 0 7
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
FRZB 0 0 1 0 0 0 0 2 0 3
AP4B1, PTPN22 0 0 1 0 0 0 0 1 0 2
CUL9 0 0 2 0 0 0 0 0 0 2
LOC130062090, LOC130062091, LOC130062092, LPIN2 1 0 1 0 0 0 0 0 0 2
MLKL 0 0 0 0 0 0 2 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
A4GALT 1 0 0 0 0 0 0 0 0 1
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
EMILIN2, LPIN2, SMCHD1 1 0 0 0 0 0 0 0 0 1
GDF5, LOC109461476 0 0 0 0 0 0 0 1 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
IL1F10, IL1RN, IL36RN 1 0 0 0 0 0 0 0 0 1
IL1R1 1 0 0 0 0 0 0 0 0 1
IL6, LOC126859963 0 0 0 0 0 0 0 1 0 1
IRF5 1 0 0 0 0 0 0 0 0 1
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1 0 0 1 0 0 0 0 0 0 1
MIF 0 0 0 0 0 0 0 1 0 1
NFKBIA 0 0 1 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: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 28 13 296 339 41 0 0 0 0 717
Illumina Laboratory Services, Illumina 0 0 399 59 165 0 0 0 0 622
Fulgent Genetics, Fulgent Genetics 14 3 33 12 6 0 0 0 0 68
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 18 30 10 0 0 0 0 58
Revvity Omics, Revvity 0 0 27 0 0 0 0 0 0 27
OMIM 16 0 0 0 0 0 0 10 0 26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 20 0 1 0 0 0 0 21
Mendelics 3 5 0 0 0 0 0 0 0 8
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 0 8 0 0 8
GeneReviews 0 0 0 0 0 0 0 0 7 7
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 0 7 7
Baylor Genetics 0 1 4 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 5 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 0 0 0 0 0 4
Department of Zoology, University of the Punjab, Lahore 0 0 0 0 0 0 4 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 1 0 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 0 0 0 2
Vinuesa Lab, Australian National University 0 0 0 0 0 0 2 0 0 2
Genome-Nilou Lab 0 0 1 0 1 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 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 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 0 0 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
Centro Nacional de Biotecnologia, Consejo Superior de Investigaciones Cientificas 0 0 0 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 1
Experimental and Health Sciences Department, Universitat Pompeu Fabra 0 0 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 0 1

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