ClinVar Miner

Variants studied for hyperostosis

Included ClinVar conditions (37):
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 not provided total
688 136 2276 1401 237 18 4631

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRP4 12 15 587 507 50 0 1147
EXT1 411 40 298 212 31 0 968
EXT2 171 27 324 221 55 1 758
SQSTM1 33 6 353 250 34 0 653
LRP5 6 20 349 94 4 1 473
COL1A1 25 15 137 26 16 5 220
TNFRSF11A 0 0 67 19 10 0 96
TNFRSF11B 6 1 40 3 15 0 65
EXT2, LOC126861201 3 2 33 24 1 0 61
SOST 7 1 26 5 7 11 54
LOC129995449, SQSTM1 0 2 16 28 1 0 46
MRNIP, SQSTM1 0 0 14 3 2 0 19
LOC130062628, TNFRSF11A 3 0 5 2 1 0 11
EXT2, LOC130005598 0 0 3 0 6 0 9
LOC112997583, SQSTM1 0 1 7 0 1 0 9
COL1A1, LOC126862586 2 2 1 2 1 0 8
EXT1, LOC130001002 0 0 4 1 2 0 7
ZNF687 2 1 5 0 0 0 6
LOC130005663, LRP4 0 0 1 4 0 0 5
A4GALT 1 0 0 0 0 0 1
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, LINC00536, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, TRPS1, UTP23 0 0 1 0 0 0 1
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, UTP23 0 0 1 0 0 0 1
ADAMTS2, CANX, CBY3, GRM6, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1, ZNF354C, ZNF879 0 0 1 0 0 0 1
ADAMTS2, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1 0 0 1 0 0 0 1
ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, MAL2, MED30, MRPL13, MTBP, MTSS1, NDUFB9, NSMCE2, NTAQ1, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 0 1
CCN3, COL14A1, COLEC10, DEPTOR, DSCC1, ENPP2, EXT1, MAL2, MRPL13, MTBP, SAMD12, SNTB1, TAF2, TNFRSF11B 1 0 0 0 0 0 1
COLEC10, TNFRSF11B 1 0 0 0 0 0 1
DOCK6 0 1 0 0 0 0 1
EXT1, LOC124188206 1 0 0 0 0 0 1
EXT2, LOC130005600, LOC130005601 1 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 1
LOC129931343, POLR3GL 0 1 0 0 0 0 1
LTC4S, MGAT4B, SQSTM1 0 0 1 0 0 0 1
POLR3GL 0 1 0 0 0 0 1
SAMD12, TNFRSF11B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 585 41 1287 1195 147 0 3255
Fulgent Genetics, Fulgent Genetics 31 37 721 144 10 0 943
Illumina Laboratory Services, Illumina 1 1 377 98 105 0 581
Baylor Genetics 3 7 98 0 0 0 108
OMIM 48 0 0 0 0 0 48
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 2 34 0 0 0 37
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 2 0 9 16 0 27
Juno Genomics, Hangzhou Juno Genomics, Inc 17 6 1 0 0 0 24
Genome-Nilou Lab 0 0 0 0 16 0 16
Mendelics 4 4 3 3 1 0 15
GeneReviews 0 0 0 0 0 12 12
Institute of Human Genetics, University of Leipzig Medical Center 6 4 1 0 0 0 11
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 9 2 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 1 1 0 0 8
3billion, Medical Genetics 3 2 0 2 0 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 2 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 2 1 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 3 1 1 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 2 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Research Laboratory Environment, Inflammation, Signaling and Pathologies, Faculty of Medicine, University of Monastir 3 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 1 0 2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 0 2 0 0 0 0 2
Department of Cell Biology, School of Life Sciences, Central South University 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 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 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Endocrinology, CHU de Quebec-Université Laval 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Neurogenetics, Research Centre for Medical Genetics 0 0 0 1 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 1

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