ClinVar Miner

Variants studied for Ehlers-Danlos syndrome

Included ClinVar conditions (38):
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
727 172 1545 305 191 28 2868

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 452 56 169 65 19 6 733
COL5A1 48 12 233 36 30 4 354
FLNA 48 27 200 27 15 3 315
ZNF469 4 0 187 53 27 2 272
COL1A2 49 34 95 32 13 1 220
ADAMTS2 4 4 165 26 26 0 217
COL5A2 9 6 155 20 20 3 207
PLOD1 20 4 146 26 18 0 203
COL5A1, LOC101448202 12 5 64 13 7 1 102
PRDM5 6 0 32 3 3 0 44
CHST14 11 2 10 1 0 3 25
FKBP14 8 1 11 0 1 0 21
SLC39A13 2 0 13 1 3 0 19
B4GALT7 7 0 5 1 3 3 18
COL1A1 11 2 4 0 0 1 18
FLNA, LOC107988032 2 0 14 0 1 0 17
C1R 14 14 1 0 0 0 15
TNXB 0 1 12 0 1 1 14
B3GALT6 6 0 6 0 0 0 12
LOC106780803, TNXB 0 0 6 1 1 0 7
DSE 2 0 4 0 0 0 6
AEBP1 5 1 0 0 0 0 5
C1S 2 2 2 0 0 0 4
COL3A1, MIR3606 2 0 0 0 0 0 2
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 2 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 2
ABO, ADAMTS13, ADAMTSL2, AK8, BARHL1, BRD3, C9orf116, C9orf62, CACFD1, CEL, CFAP77, COL5A1, DBH, DDX31, FAM163B, FCN1, FCN2, GBGT1, GFI1B, GLT6D1, GTF3C4, GTF3C5, KCNT1, LCN1, LCN9, 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
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
COL3A1, COL5A2, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 1
LOC112577486, PLOD1 0 0 0 0 1 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: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 161 92 1049 132 50 0 1484
Illumina Clinical Services Laboratory,Illumina 1 0 395 145 74 0 615
Collagen Diagnostic Laboratory,University of Washington 411 0 0 0 0 0 411
OMIM 154 0 0 0 0 0 154
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 9 13 66 0 89
Fulgent Genetics,Fulgent Genetics 12 1 51 0 0 0 64
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 34 0 0 0 34
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 3 30 0 33
Mendelics 5 5 3 3 14 0 30
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 30 0 30
Claritas Genomics 8 15 6 0 0 0 29
GenomeConnect, ClinGen 0 0 0 0 0 26 26
Center for Human Genetics, Inc 2 3 12 8 0 0 25
Division 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
Baylor Genetics 5 4 3 0 0 0 12
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 8 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 5 0 0 0 8
Counsyl 1 4 2 0 0 0 7
GeneReviews 7 0 0 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 5 1 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 2 4 0 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 3 3 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
Clinical Genetics Group,University of Otago 4 0 0 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 1 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 0 2 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 2 0 0 0 3
Institute of Human Genetics,Cologne University 0 0 2 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 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
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Molecular Genetics Center,Sichuan Provincial People's Hospital 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 1

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