ClinVar Miner

Variants studied for Coffin-Siris syndrome

Included ClinVar conditions (15):
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
145 68 148 12 76 3 445

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARID1B 84 32 32 1 0 1 147
SMARCA4 9 9 48 6 74 0 144
ARID1A 20 10 31 4 0 1 66
SMARCC2 6 3 11 0 0 0 20
SMARCB1 3 6 7 0 0 0 15
SOX11 4 6 5 0 0 0 14
SOX4 4 0 4 0 0 0 8
DPF2 5 0 2 0 0 0 7
SMARCE1 3 1 3 0 0 0 7
SMARCD1 5 0 0 0 0 0 5
ARID1B, LOC115308161 0 1 2 0 1 0 4
KDM8 0 0 2 0 0 0 2
SMARCA2 0 0 1 0 0 1 2
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, C6orf120, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DLL1, DYNLT1, DYNLT2, ERMARD, ESR1, EZR, FAM120B, FBXO5, FNDC1, FRMD1, GPR31, GTF2H5, IGF2R, IPCEF1, KIF25, LINC02487, LINC02901, LOC729681, LPA, MAP3K4, MAS1, MPC1, MRPL18, MTRF1L, MYCT1, NOX3, OPRM1, PACRG, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RGS17, RMND1, RNASET2, RPS6KA2, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNX9, SOD2, SYNE1, SYNJ2, SYTL3, TAGAP, TBP, TBXT, TCP1, TFB1M, THBS2, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZBTB2, ZDHHC14 1 0 0 0 0 0 1
ACTN4 0 0 0 1 0 0 1
ARID1B, TMEM242, ZDHHC14 1 0 0 0 0 0 1
HR 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 18 6 74 0 100
Baylor Genetics 24 11 52 0 0 0 87
OMIM 50 0 0 0 0 0 50
Fulgent Genetics,Fulgent Genetics 2 0 25 0 0 0 27
Genetic Services Laboratory, University of Chicago 19 7 0 0 0 0 26
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 1 14 1 0 0 22
Institute of Human Genetics, University of Leipzig Medical Center 1 7 13 1 0 0 22
Institute of Human Genetics, Klinikum rechts der Isar 9 2 0 0 0 0 11
New York Genome Center 0 1 10 0 0 0 11
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 9 1 0 0 0 0 10
Mendelics 4 1 2 1 1 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 7 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 0 1 0 0 0 8
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 2 0 0 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 4 1 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 4 0 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 0 2 2 1 1 0 6
Institute of Human Genetics,Cologne University 2 2 0 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 2 0 0 0 3
Undiagnosed Diseases Network,NIH 1 2 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Clinical Genomics Program, Stanford Medicine 1 0 2 0 0 0 3
Clinical Genetics laboratory, University of Goettingen 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Laboratory of Molecular Genetics,CHU RENNES 0 2 0 0 0 0 2
Daryl Scott Lab,Baylor College of Medicine 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Autoinflammatory diseases unit,CHU de Montpellier 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Children's Hospital of Wisconsin Genetics Clinic,Medical College of Wisconsin 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1

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