ClinVar Miner

Variants studied for Ehlers-Danlos syndrome

Included ClinVar conditions (45):
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
851 270 3011 1287 625 36 5798

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 464 114 300 154 68 8 1030
COL12A1 22 7 649 198 53 1 927
COL5A1 84 19 394 217 79 7 761
ADAMTS2 16 10 304 230 73 0 573
COL5A2 12 11 275 126 87 4 495
COL1A2 93 54 196 91 66 2 483
PLOD1 25 4 231 69 25 0 333
ZNF469 6 3 199 55 28 2 291
COL5A1, LOC101448202 22 11 120 53 38 2 240
COL1A1 15 2 58 15 66 2 156
SLC39A13 2 0 36 27 5 0 70
CHST14 13 2 38 11 3 3 66
FKBP14 9 3 39 8 8 0 66
PRDM5 7 3 35 5 4 0 54
B3GALT6 10 1 29 8 5 0 53
FLNA 8 5 24 0 0 1 37
B4GALT7 8 0 13 12 5 3 36
DSE 2 0 18 6 7 0 32
TNXB 1 1 24 0 1 1 27
C1R 15 15 4 0 0 0 20
AEBP1 8 1 1 0 0 0 9
LOC106780803, TNXB 0 0 7 1 1 0 8
C1S 2 2 4 0 0 0 6
COL3A1, MIR3606 2 0 0 1 0 0 3
LOC112577486, PLOD1 0 0 1 0 1 0 2
MFN2, PLOD1 0 0 0 0 2 0 2
ABO, ADAMTS13, ADAMTSL2, AK8, BARHL1, BRD3, C9orf116, 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, 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, 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, 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
B3GALT6, SDF4, TNFRSF4 0 0 1 0 0 0 1
CASD1, COL1A2, SGCE 0 0 1 0 0 0 1
COL3A1, COL5A2 1 1 0 0 0 0 1
COL3A1, COL5A2, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
COL3A1, COL5A2, SLC40A1, WDR75 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 1
FLNA, LOC107988032 0 0 1 0 0 0 1
MED12 0 0 1 0 0 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
TGFBR1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 299 186 2255 1082 288 0 4109
Illumina Clinical Services Laboratory,Illumina 1 0 556 212 388 0 1157
Collagen Diagnostic Laboratory,University of Washington 411 0 0 0 0 0 411
OMIM 153 0 0 0 0 0 153
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 20 24 86 0 131
Natera, Inc. 1 0 57 36 26 0 120
Baylor Genetics 9 8 64 0 0 0 81
Fulgent Genetics,Fulgent Genetics 12 1 61 0 0 0 74
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 55 2 0 0 58
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 5 28 2 0 0 37
GenomeConnect, ClinGen 0 0 0 0 0 34 34
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 3 30 0 33
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 30 0 30
Mendelics 5 5 3 3 13 0 29
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 3 12 8 0 0 25
Division 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
Institute of Human Genetics, University of Leipzig Medical Center 2 2 10 0 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 10 0 0 0 12
Center for Medical Genetics Ghent,University of Ghent 4 6 0 0 0 0 10
Integrated Genetics/Laboratory Corporation of America 3 6 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 7 0 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 8 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 6 1 0 0 0 7
GeneReviews 7 0 0 0 0 0 7
Counsyl 0 4 2 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 3 3 0 0 6
Division of Biology and Genetics,University of Brescia 6 0 0 0 0 0 6
Blueprint Genetics 0 2 3 0 0 0 5
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 3 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 1 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Institute of Human Genetics,Cologne University 0 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 3
Nilou-Genome Lab 0 0 0 0 3 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 1 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 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
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Department of Periodontology,Nanjing Stomatological Hospital, Medical School of Nanjing University 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Institute of Human Genetics,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
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 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 for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 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
Myriad Women's Health, Inc. 1 0 0 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
New York Genome Center 0 0 1 0 0 0 1

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