ClinVar Miner

Variants studied for Coffin-Siris syndrome 1

Coded as:
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 total
61 13 4 0 0 77

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
ARID1B 58 12 3 72
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, C6orf120, C6orf99, CCDC170, CCR6, CLDN20, CNKSR3, DACT2, DLL1, DYNLT1, ERMARD, ESR1, EZR, FAM120B, FBXO5, FGFR1OP, FNDC1, FRMD1, GPR31, GTF2H5, IGF2R, IPCEF1, KIF25, LINC02487, 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, TCP10L2, TCTE3, TFB1M, THBS2, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZBTB2, ZDHHC14 1 0 0 1
ARID1B, LOC115308161 0 1 0 1
ARID1B, TMEM242, ZDHHC14 1 0 0 1
DPF2 1 0 0 1
SMARCA4 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
Baylor Miraca Genetics Laboratories, 16 1 0 17
Genetic Services Laboratory, University of Chicago 15 2 0 17
OMIM 12 0 0 12
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 1 0 6
Institute of Human Genetics,Cologne University 2 2 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 0 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 1 0 3
GeneReviews 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 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.