ClinVar Miner

Variants studied for bone remodeling disease

Included ClinVar conditions (63):
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
440 104 754 260 120 3 3 1646

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
TCIRG1 15 33 84 5 2 0 1 133
ANKH, OTULIN 0 0 42 54 16 0 0 112
LRP4 3 0 71 18 19 0 0 110
VDR 17 0 70 11 3 0 0 101
CLCN7 10 2 59 21 9 0 0 99
COL1A1 7 1 72 20 0 0 0 99
PHEX 74 5 10 8 1 0 0 97
EXT1 75 8 6 0 2 0 0 90
SQSTM1 4 1 56 22 16 0 0 87
OSTM1 4 0 41 17 9 0 0 71
PHEX, PTCHD1 46 7 6 4 2 0 0 64
LEMD3 7 1 32 20 1 0 0 61
CTSK 8 32 19 0 0 0 0 56
EXT2 37 1 8 2 7 0 0 54
TNFRSF11A 8 0 31 15 0 0 0 54
FERMT3 11 0 28 7 9 0 0 53
CYP27B1 20 2 20 0 0 0 0 40
TNFSF11 3 0 23 8 5 0 0 39
TNFRSF11B 6 0 18 6 6 0 0 36
ANKH 5 0 14 8 7 0 0 34
SLC34A3 16 3 2 0 1 0 0 22
CA2 6 1 10 2 1 0 0 20
MRNIP, SQSTM1 0 0 9 3 0 0 0 12
AMER1 9 1 0 0 0 0 0 10
COL1A2 4 0 5 0 0 0 0 9
LRP5 4 1 3 1 0 0 0 9
ANKH, LOC100130744, OTULIN 2 0 0 5 1 0 0 8
CA2, CA3 1 0 5 0 1 0 0 7
ENPP1 6 1 0 0 0 0 2 7
DMP1 4 1 1 0 0 0 0 6
LOC112997583, SQSTM1 0 0 4 2 0 0 0 6
SOST 6 0 0 0 0 0 0 6
FGF23 3 1 0 0 0 0 0 4
SLC9A3R1 3 0 2 0 1 0 0 4
CLCN5 2 0 1 0 0 0 0 3
PLEKHM1 3 0 0 0 0 0 0 3
SLC34A1 3 0 0 0 0 0 0 3
WNT1 0 0 0 0 0 3 0 3
NDUFS8, TCIRG1 0 0 0 1 1 0 0 2
POLR3GL 0 2 0 0 0 0 0 2
SNX10 2 0 0 0 0 0 0 2
ZNF687 2 0 0 0 0 0 0 2
A4GALT 1 0 0 0 0 0 0 1
CBLL2, PHEX, PTCHD1 1 0 0 0 0 0 0 1
COLEC10, TNFRSF11B 1 0 0 0 0 0 0 1
CYP2R1 1 0 0 0 0 0 0 1
G6PD, IKBKG 0 0 1 0 0 0 0 1
GJA1 1 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 1
IKBKG 1 0 0 0 0 0 0 1
LRRK1 1 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 risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 2 3 538 219 64 0 0 825
Invitae 102 7 147 36 51 0 0 343
OMIM 188 0 0 0 0 3 0 191
Institute of Human Genetics,Klinikum rechts der Isar 128 2 1 0 0 0 0 131
Counsyl 8 62 33 1 0 0 0 104
Fulgent Genetics,Fulgent Genetics 17 3 19 0 0 0 0 39
Integrated Genetics/Laboratory Corporation of America 1 9 1 1 0 0 0 12
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 4 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 4 1 3 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 1 2 0 0 0 0 8
GeneReviews 6 0 0 0 1 0 0 7
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 2 0 0 6
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 4 0 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 4 0 0 5
Baylor Miraca Genetics Laboratories, 2 0 2 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 2 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 2 0 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 2 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 0 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 2 0 0 0 0 2
American University of Beirut,Same Uiversity Hospital 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Guangxi Key laboratory of Metabolic Diseases Research; Guilin 181st Hospital 0 1 0 0 0 0 0 1
Center for Molecular Medicine,Karolinska Institute 0 1 0 0 0 0 0 1
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1

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