ClinVar Miner

Variants studied for Coffin-Siris syndrome

Included ClinVar conditions (11):
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
86 27 62 52 19 1 245

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCA4 7 6 43 44 16 0 116
ARID1B 52 12 3 0 0 0 66
SMARCB1 3 3 13 6 3 0 27
ARID1A 12 3 1 2 0 1 19
DPF2 5 0 0 0 0 0 5
SOX11 3 2 0 0 0 0 5
SMARCE1 2 1 1 0 0 0 4
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 0 0 0 1
ARID1B, TMEM242, ZDHHC14 1 0 0 0 0 0 1
SMARCA2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 30 50 19 0 99
OMIM 36 0 0 0 0 0 36
Fulgent Genetics 2 0 25 0 0 0 27
Genetic Services Laboratory, University of Chicago 19 7 0 0 0 0 26
Baylor Miraca Genetics Laboratories, 17 1 3 0 0 0 21
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 2 0 0 0 0 7
HudsonAlpha Institute for Biotechnology 6 0 0 0 0 0 6
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 4 0 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 4 0 0 0 0 0 4
Institute of Human Genetics,Cologne University 2 1 0 0 0 0 3
Undiagnosed Diseases Network,NIH 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Laboratory of Molecular Genetics,CHU RENNES 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 2 0 0 0 0 2
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 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
Rady Children's Institute for Genomic Medicine,Rady Children's Hospital San Diego 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 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

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