ClinVar Miner

Variants studied for Ehlers-Danlos syndrome

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
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Gene type:
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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
1361 715 6546 6818 1578 124 15999

Gene and significance breakdown #

Total genes and gene combinations: 78
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL12A1 53 28 1236 1186 131 17 2599
COL3A1 525 254 881 759 89 14 2341
COL5A1 155 64 618 962 409 20 2007
ADAMTS2 57 47 531 950 104 7 1578
COL1A2 245 127 549 517 85 8 1465
COL5A2 26 28 567 712 163 10 1348
PLOD1 61 36 352 486 32 3 925
COL5A1, LOC101448202 46 17 174 255 141 5 565
ZNF469 8 18 343 117 118 6 509
TNXB 14 16 168 41 61 8 292
COL1A1 30 12 121 49 78 7 272
B4GALT7 9 2 130 123 14 3 266
B3GALT6 14 5 141 103 8 0 265
SLC39A13 2 0 100 155 14 1 265
DSE 2 0 124 101 14 0 236
FKBP14 11 6 81 64 10 3 166
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 9 7 49 16 3 6 86
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 10 3 0 0 29
ATP7A 0 0 11 11 4 0 26
AEBP1 9 3 6 0 5 0 22
C1S 3 3 13 3 0 0 20
TGFBR1 0 1 11 1 6 0 19
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
COL12A1, LOC129996730 1 1 3 2 0 0 7
COL3A1, MIR3606 2 0 1 4 0 0 7
LOC112577486, PLOD1 0 0 2 3 3 1 7
FBN2, LOC126807501 0 0 2 2 2 0 6
COL3A1, COL5A2 3 1 1 0 0 0 4
FLNA, LOC107988032 0 0 3 0 1 0 4
LOC130059719, ZNF469 1 0 2 0 1 0 4
LOC130059718, ZNF469 0 0 2 0 1 0 3
ADAMTS2, GRM6, ZNF354C, ZNF879 0 0 2 0 0 0 2
CASD1, COL1A2, SGCE 1 0 1 0 0 0 2
COL3A1, COL5A2, SLC40A1, WDR75 2 0 0 0 0 0 2
ABCD1 1 0 0 0 0 0 1
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, 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, SPATA31J1, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, 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
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
ATM 0 1 0 0 0 0 1
B3GALT6, SDF4, TNFRSF4 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
CLCN6, KIAA2013, MFN2, MTHFR, NPPA, NPPB, PLOD1 0 0 1 0 0 0 1
COL12A1, COX7A2, FILIP1, IMPG1, MYO6, SENP6, TMEM30A 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
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
DCLRE1C 0 1 0 0 0 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: 142
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 772 417 4596 6149 970 0 12903
Illumina Laboratory Services, Illumina 1 1 701 344 404 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 164 0 0 0 0 0 164
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 2 3 89 19 2 0 115
Baylor Genetics 13 14 78 0 0 0 104
Revvity Omics, Revvity 3 8 58 0 0 0 69
GenomeConnect, ClinGen 0 0 0 0 0 61 61
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 36 0 0 0 0 55
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 7 30 4 0 0 54
MGZ Medical Genetics Center 1 8 39 1 0 0 49
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 48 48
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 5 28 2 0 0 37
Mendelics 8 7 3 3 13 0 34
Juno Genomics, Hangzhou Juno Genomics, Inc 16 13 4 0 0 0 33
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
Institute of Human Genetics, University of Leipzig Medical Center 2 8 15 0 0 0 25
Neuberg Centre For Genomic Medicine, NCGM 1 4 19 0 0 0 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 18 1 0 0 0 22
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 4 11 1 0 0 22
Myriad Genetics, Inc. 1 21 0 0 0 0 22
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 3 10 0 0 0 14
GeneReviews 1 0 0 0 0 12 13
New York Genome Center 0 1 12 0 0 0 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 6 6 0 0 0 13
Molecular Genetics, Royal Melbourne Hospital 1 0 8 1 2 0 12
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 9 0 0 0 10
3billion 6 1 2 1 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 7 0 0 0 9
MVZ Medizinische Genetik Mainz 1 2 6 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
Institute of Human Genetics, Cologne University 0 2 5 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 2 0 0 0 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 4 1 2 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 2 0 0 0 0 6
Institute of Human Genetics, University of Goettingen 1 1 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
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 3 0 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
Solve-RD Consortium 0 5 0 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
Institute of Immunology and Genetics Kaiserslautern 1 0 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 2 1 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 1 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 2 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 1 1 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
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
Department of Genetics, Suzhou Beikang Medical Laboratory 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
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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 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
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Research Centre for Medical Genetics, Federal State Budgetary Scientific Institution 1 0 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 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
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 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
Department Of Medical Genetics, University Of British Columbia 0 0 1 0 0 0 1

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