ClinVar Miner

Variants studied for bone remodeling disease

Included ClinVar conditions (71):
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
718 159 1835 471 575 3 5 3655

Gene and significance breakdown #

Total genes and gene combinations: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
EXT1 218 11 92 25 21 0 0 360
EXT2 95 2 94 48 40 0 1 257
TCIRG1 18 40 182 16 15 0 1 256
LRP4 3 1 149 71 26 0 0 248
SQSTM1 13 1 127 68 24 0 0 214
ENPP1 6 1 96 18 59 0 2 179
CLCN7 14 4 111 10 36 0 0 173
FERMT3 11 1 86 62 17 0 0 173
ANKH, OTULIN 0 0 95 8 68 0 0 171
COL1A1 7 3 126 20 15 0 1 171
VDR 17 0 112 11 16 0 0 156
PHEX 101 17 17 5 10 0 0 146
TNFRSF11A 8 0 70 22 14 0 0 110
OSTM1 5 0 62 9 29 0 0 105
LEMD3 8 1 49 12 23 0 0 93
PHEX, PTCHD1 58 18 8 3 7 0 0 93
CTSK 14 36 31 5 2 0 0 80
DMP1 4 1 44 3 16 0 0 67
TNFRSF11B 7 0 38 3 15 0 0 63
TNFSF11 3 0 41 5 14 0 0 63
CYP27B1 23 3 32 3 1 0 0 60
FGF23 3 1 27 6 22 0 0 59
SLC34A1 3 0 21 9 21 0 0 54
ANKH 4 1 16 2 24 0 0 46
SOST 6 0 25 5 7 0 0 43
SLC34A3 16 5 10 1 3 0 0 34
CA2 5 4 18 2 4 0 0 31
AMER1 14 2 6 3 0 0 0 25
MRNIP, SQSTM1 0 0 14 3 2 0 0 19
F12, SLC34A1 0 0 0 11 9 0 0 14
ANKH, LOC100130744, OTULIN 3 0 0 0 10 0 0 13
COL1A2 4 0 7 0 0 0 0 11
LRP5 4 1 3 1 0 0 0 9
CA2, CA3 1 0 6 0 1 0 0 8
LOC112997583, SQSTM1 0 0 7 0 1 0 0 8
CLCN5 2 1 2 0 0 0 0 5
CYP2R1 4 1 1 0 0 0 0 5
SLC9A3R1 3 0 3 0 1 0 0 4
ZNF687 2 0 2 0 0 0 0 4
PLEKHM1 3 0 0 0 0 0 0 3
SNX10 2 1 0 0 0 0 0 3
WNT1 0 0 0 0 0 3 0 3
CBLL2, PHEX, PTCHD1 2 0 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 0 1 1 0 0 2
POLR3GL 0 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
A4GALT 1 0 0 0 0 0 0 1
ADAMTS2, C5orf60, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1 0 0 1 0 0 0 0 1
CA1 0 0 1 0 0 0 0 1
COLEC10, TNFRSF11B 1 0 0 0 0 0 0 1
CYP3A4 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
HADHB 0 0 1 0 0 0 0 1
LRRK1 1 0 0 0 0 0 0 1
MAP2K1 1 0 0 0 0 0 0 1
PHYH 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 3 3 1213 226 484 0 0 1918
Invitae 304 10 446 226 91 0 0 1077
OMIM 194 0 0 0 0 3 0 197
Institute of Human Genetics, Klinikum rechts der Isar 128 3 1 0 0 0 0 132
Natera, Inc. 4 0 90 12 12 0 0 118
Counsyl 8 62 33 1 0 0 0 104
Mendelics 39 22 8 3 6 0 0 78
Fulgent Genetics,Fulgent Genetics 17 3 19 0 0 0 0 39
Baylor Genetics 11 4 21 0 0 0 0 36
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 6 5 9 0 0 0 0 20
Integrated Genetics/Laboratory Corporation of America 3 11 1 1 0 0 0 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 4 5 0 2 0 0 15
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 2 3 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 2 2 2 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 4 0 0 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 4 0 0 9
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 6 1 0 0 0 0 9
GeneReviews 6 0 0 0 1 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 5 0 2 0 0 0 0 7
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 7 0 0 0 0 0 0 7
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 2 0 0 6
Women's and Children's Health,University of Otago 6 0 0 0 0 0 0 6
Hereditary Research Laboratory, Bethlehem University 4 0 1 0 0 0 0 5
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 2 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 2 2 0 0 0 0 0 4
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 2 0 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 0 0 0 0 0 0 4
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 2 0 0 0 0 4
Undiagnosed Diseases Network,NIH 2 0 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 1 0 0 0 0 0 3
Breda Genetics srl 2 1 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 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, FRIGE's 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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 0 0 2
MNM Diagnostics 2 0 0 0 0 0 0 2
Department of Cell Biology,School of Life Sciences, Central South University 2 0 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
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 0 1
Center for Molecular Medicine,Karolinska Institute 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 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
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 0 1
Bioinformatics Research Center, Pavlov First St. Petersburg State Medical University 0 1 0 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 0 1
NYU Undiagnosed Diseases Program,NYU School of Medicine 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1 0 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 1
NIDO Danmark,Gødstrup Hospital 0 1 0 0 0 0 0 1
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 0 1

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