ClinVar Miner

Variants studied for Ehlers-Danlos syndrome

Included ClinVar conditions (72):
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
1317 673 6508 6813 1578 124 15887

Gene and significance breakdown #

Total genes and gene combinations: 75
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL12A1 53 25 1230 1186 131 17 2592
COL3A1 523 244 879 759 89 14 2330
COL5A1 146 60 614 961 409 20 1992
ADAMTS2 55 44 533 948 104 7 1574
COL1A2 245 124 547 517 85 8 1462
COL5A2 26 28 563 712 163 10 1343
PLOD1 55 31 350 486 32 3 914
COL5A1, LOC101448202 44 17 173 255 141 5 563
ZNF469 5 16 340 116 118 6 501
TNXB 8 14 166 40 61 8 282
B4GALT7 9 2 130 123 14 3 266
B3GALT6 14 3 141 103 8 0 265
SLC39A13 2 0 99 155 14 1 264
COL1A1 24 8 117 49 78 7 258
DSE 2 0 124 101 14 0 236
FKBP14 11 6 80 64 10 3 165
CHST14 20 2 69 53 5 3 144
FBN2 0 1 35 31 36 0 103
PRDM5 8 9 60 8 10 1 90
FLNA 7 6 46 16 3 6 80
COL12A1, LOC126859712 1 0 35 32 5 0 73
COL3A1, LOC126806446 12 4 21 21 1 0 57
LOC106780803, TNXB 1 2 20 10 6 0 37
CHST14, LOC130056851 4 0 20 13 0 0 36
C1R 14 15 9 3 0 0 28
ATP7A 0 0 11 11 4 0 26
AEBP1 8 2 5 0 5 0 19
TGFBR1 0 1 11 1 6 0 19
C1S 2 3 12 3 0 0 18
SMAD3 1 1 11 3 2 0 18
B4GALT7, LOC129995400 1 1 8 9 0 0 17
TGFBR2 0 1 5 5 6 0 17
TGFB2 1 0 3 8 3 0 15
COL1A1, LOC126862586 1 0 5 0 3 1 10
COL3A1, MIR3606 2 0 1 4 0 0 7
LOC112577486, PLOD1 0 0 2 3 3 1 7
COL12A1, LOC129996730 1 1 2 2 0 0 6
FBN2, LOC126807501 0 0 2 2 2 0 6
LOC130059719, ZNF469 1 0 2 0 1 0 4
COL3A1, COL5A2 2 1 1 0 0 0 3
FLNA, LOC107988032 0 0 2 0 1 0 3
LOC130059718, ZNF469 0 0 2 0 1 0 3
ADAMTS2, GRM6, ZNF354C, ZNF879 0 0 2 0 0 0 2
ABO, ADAMTS13, ADAMTSL2, AK8, BARHL1, BRD3, CACFD1, CEL, CFAP77, COL5A1, DBH, DDX31, FAM163B, FCN1, FCN2, GBGT1, GFI1B, GLT6D1, GTF3C4, GTF3C5, KCNT1, LCN1, LCN9, LINC02907, MED22, MED27, MRPS2, MYMK, NTNG2, OBP2A, OBP2B, OLFM1, PAEP, PIERCE1, POMT1, PPP1R26, RALGDS, RAPGEF1, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SETX, SLC2A6, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, TTF1, UCK1, VAV2, WDR5 0 0 1 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 0 0 1 0 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, CPTP, DVL1, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TAS1R3, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 0 0 1 0 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 0 0 1 0 0 0 1
ADAMTS2, ARL10, B4GALT7, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, COL23A1, CPLX2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, KIAA1191, LMAN2, LTC4S, MAML1, MGAT4B, MXD3, N4BP3, NHP2, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RGS14, RMND5B, RNF44, RUFY1, SIMC1, SLC34A1, SNCB, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 0 0 1 0 0 0 1
ADAMTS2, C5orf60, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1 0 0 1 0 0 0 1
ADAMTS2, LOC112997581 1 0 0 0 0 0 1
ALB 1 0 0 0 0 0 1
AQP1, CRHR2, FKBP14, GARS1, GGCT, GHRHR, INMT, MINDY4, MTURN, NOD1, PLEKHA8, ZNRF2 0 0 1 0 0 0 1
B3GALT6, SDF4, TNFRSF4 0 0 1 0 0 0 1
B4GALT7, CLK4, COL23A1, FAM153A, GRM6, HNRNPAB, N4BP3, NHP2, PHYKPL, PROP1, RMND5B, ZFP2, ZNF354A, ZNF354B, ZNF454 0 0 1 0 0 0 1
B4GALT7, DBN1, DDX41, DOK3, EIF4E1B, F12, FAM153A, FAM193B, FGFR4, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 0 0 1 0 0 0 1
C1R, C1RL 1 1 0 0 0 0 1
C9orf163, CAMSAP1, CARD9, COL5A1, DNLZ, ENTR1, FCN1, FCN2, GLT6D1, GPSM1, INPP5E, KCNT1, LCN1, LCN9, LHX3, LINC02907, MRPS2, NACC2, NOTCH1, OBP2A, OLFM1, PAEP, PIERCE1, PMPCA, PPP1R26, QSOX2, SEC16A, SNAPC4, SOHLH1, TMEM250, UBAC1 0 0 1 0 0 0 1
CASD1, COL1A2, SGCE 0 0 1 0 0 0 1
CLCN6, KIAA2013, MFN2, MTHFR, NPPA, NPPB, PLOD1 0 0 1 0 0 0 1
COL3A1, COL5A2, LOC126806446, LOC129935237, LOC129935238, LOC129935239, LOC129935240, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
COL3A1, COL5A2, SLC40A1, WDR75 1 0 0 0 0 0 1
COL5A1, LOC101448202, LOC130002964 1 0 0 0 0 0 1
COL5A1, LOC130002964 1 0 0 0 0 0 1
CYP21A2, LOC106780803, TNXB 0 0 1 0 0 0 1
CYP21A2, TNXB 0 0 0 0 1 0 1
DSE, LOC129997034, TSPYL1 0 0 0 0 1 0 1
LOC126859908, THBS2 1 0 0 0 0 0 1
LOC129929423, MFN2, PLOD1 0 0 0 0 1 0 1
LOC130002223, TGFBR1 0 0 1 0 0 0 1
LOC130057352, SMAD3 0 0 1 0 0 0 1
MED12 0 0 1 0 0 0 1
MFN2, PLOD1 0 0 0 0 1 0 1
MYH11 0 0 1 0 0 0 1
NOTCH1 0 0 1 0 0 0 1
SLC2A10 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 131
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 756 413 4592 6149 970 0 12879
Illumina Laboratory Services, Illumina 1 1 703 342 404 0 1323
Genome Diagnostics Laboratory, The Hospital for Sick Children 14 32 607 274 257 0 1184
All of Us Research Program, National Institutes of Health 4 8 424 238 12 0 686
Fulgent Genetics, Fulgent Genetics 28 9 265 103 33 0 438
Collagen Diagnostic Laboratory, University of Washington 411 0 0 0 0 0 411
Genome-Nilou Lab 0 0 0 0 380 0 380
Natera, Inc. 1 3 143 63 42 0 252
OMIM 163 0 0 0 0 0 163
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 33 42 69 0 145
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 4 90 19 2 0 115
Baylor Genetics 12 13 75 0 0 0 99
Revvity Omics, Revvity 3 8 58 0 0 0 69
GenomeConnect, ClinGen 0 0 0 0 0 61 61
MGZ Medical Genetics Center 1 8 39 1 0 0 49
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 48 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 34 0 0 0 0 47
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 5 28 2 0 0 37
Mendelics 8 7 3 3 13 0 34
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 30 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 30 0 30
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 24 0 0 0 28
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 3 12 8 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 14 4 0 0 23
Institute of Human Genetics, University of Leipzig Medical Center 2 8 13 0 0 0 23
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 18 1 0 0 0 22
Myriad Genetics, Inc. 1 21 0 0 0 0 22
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 4 11 0 0 0 20
Institute of Human Genetics, Medical University Innsbruck 16 0 0 0 0 0 16
University of Washington Center for Mendelian Genomics, University of Washington 0 16 0 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 0 1 14 0 0 0 15
GeneReviews 1 0 0 0 0 12 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 6 6 0 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 10 0 0 0 12
New York Genome Center 0 1 10 0 0 0 11
Molecular Genetics, Royal Melbourne Hospital 1 0 7 1 2 0 11
Centogene AG - the Rare Disease Company 1 3 6 0 0 0 10
Center for Medical Genetics Ghent, University of Ghent 4 6 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 2 0 8 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 7 0 0 0 9
3billion 6 1 2 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 8 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 1 0 5 2 0 0 8
Division of Biology and Genetics, University of Brescia 7 1 0 0 0 0 8
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 4 1 2 0 7
Institute of Human Genetics, University of Goettingen 1 1 4 0 0 0 6
Institute of Human Genetics, Cologne University 0 2 4 0 0 0 6
Counsyl 0 4 2 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 3 3 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 2 0 0 0 6
Cohesion Phenomics 0 0 0 0 6 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
Blueprint Genetics 0 2 3 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 3 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 3 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 3 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 3 0 0 0 4
Pediatric Services, National Institutes of Health, Clinical Center 0 0 4 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 3 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 2 0 0 0 4
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 3 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 1 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 2 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
DASA 1 2 0 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 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
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 1 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 2
Prenatal Diagnosis Center, Inner Mongolia Medical University 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Research Centre for Medical Genetics, Federal State Budgetary Scientific Institution 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 1
ConGen 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 1 0 0 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 0 0 0 1 0 0 1
Department of Gastroenterological Surgery, Kumamoto University 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.