ClinVar Miner

Variants studied for Coffin-Siris syndrome 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
234 141 180 39 119 16 696

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARID1B 222 121 127 24 39 12 513
SMARCA4 1 1 2 2 74 2 82
ARID1B, LOC115308161 0 2 11 3 2 0 17
ARID1A 4 1 8 2 0 1 16
SMARCB1 1 7 0 1 2 0 11
ARID1B, LOC129997525 0 1 3 3 1 0 8
​intergenic 0 2 4 0 0 0 6
ARID2 0 0 4 1 0 0 5
ARID1B, LOC115308161, LOC129997523 0 1 2 0 1 0 4
ARID1B, LOC115308161, LOC129997524 0 0 2 1 0 0 3
ARID1B, LOC115308161, LOC129997525 0 0 2 1 0 0 3
SOX11 1 1 1 0 0 0 3
ARID1B, LOC115308161, LOC129997522 0 0 2 0 0 0 2
DPF2 1 0 1 0 0 0 2
INTS1 0 0 2 0 0 0 2
KDM8 0 0 2 0 0 0 2
SMARCA2 0 0 1 0 0 1 2
SMARCC2 0 1 1 0 0 0 2
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, C6orf118, C6orf120, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DCPH1, 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
AKAP12, ARID1B, CCDC170, CLDN20, CNKSR3, DCPH1, ESR1, FBXO5, GTF2H5, IPCEF1, LINC02840, LOC101928868, LOC102723831, LOC105378066, LOC105378068, LOC105378073, LOC107986528, LOC111828526, LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC129389688, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129997467, LOC129997468, LOC129997469, LOC129997470, LOC129997471, LOC129997472, LOC129997473, LOC129997474, LOC129997475, LOC129997476, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC132089374, LOC132089375, LOC132090771, MIR1202, MIR12131, MIR1273C, MIR3692, MIR4466, MTHFD1L, MTRF1L, MYCT1, NOX3, OPRM1, RGS17, RMND1, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SYNE1, SYNJ2, SYNJ2-IT1, TFB1M, TIAM2, TMEM242, TMEM242-DT, TULP4, VIP, ZBTB2, ZDHHC14 1 0 0 0 0 0 1
ARID1A, LOC126805670 0 0 1 0 0 0 1
ARID1A, LOC129929837 0 0 1 0 0 0 1
ARID1B, LOC123881345 0 1 0 0 0 0 1
ARID1B, LOC129389697, LOC129389698, LOC129997538, LOC129997539, LOC129997540 1 0 0 0 0 0 1
ARID1B, TMEM242, ZDHHC14 1 0 0 0 0 0 1
ARSL 0 1 0 0 0 0 1
BICRA 0 0 1 0 0 0 1
BICRA, EHD2 0 1 0 0 0 0 1
LOC130063547, SMARCA4 0 0 0 1 0 0 1
PLIN4 0 0 1 0 0 0 1
SOX4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 34 4 13 14 41 0 106
Illumina Laboratory Services, Illumina 6 0 0 3 74 0 83
Baylor Genetics 46 6 15 0 0 0 67
Revvity Omics, Revvity 5 5 53 0 0 0 63
3billion 24 24 3 1 0 0 52
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 23 7 4 0 38
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 26 2 3 0 0 0 31
Institute of Human Genetics, University of Leipzig Medical Center 5 8 7 0 0 0 20
Fulgent Genetics, Fulgent Genetics 3 0 8 8 0 0 19
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 14 5 0 0 0 19
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 9 2 0 0 0 17
Genetic Services Laboratory, University of Chicago 15 2 0 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 9 1 0 0 15
New York Genome Center 1 1 12 0 0 0 14
OMIM 12 0 0 0 0 0 12
Mendelics 8 0 2 0 1 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 3 1 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 1 0 0 0 0 9
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 7 1 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 3 5 0 0 0 8
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 7 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 2 2 3 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 4 0 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 4 1 0 1 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 6
MVZ Martinsried, Medicover Genetics 4 1 1 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 5 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Institute of Human Genetics Munich, TUM University Hospital 5 0 0 0 0 0 5
Institute of Human Genetics, Cologne University 3 2 0 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 2 1 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 1 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 4 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 1 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 2 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 0 0 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 4 0 0 0 0 0 4
Laboratory of Medical Genetics, University of Torino 1 3 0 0 0 0 4
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Pediatric Genetics Clinic, Sheba Medical Center 3 1 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 2 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 0 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Center of Human Genetics, Hôpital Erasme 2 0 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Laboratory of Molecular Genetics, CHU Rennes 0 2 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 2 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Applied Translational Genetics Group, University of Auckland 1 0 0 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
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 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
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Plataforma de Genómica Funcional - SJD, Institut De Recerca Sant Joan De Déu 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
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Shanghai WeHealth Biomedical Technology Company 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Yan Lab, Department of Urology, Pediatric Urolith Center, National Clinical Research Center for Child Health, The Children’s Hospital of Zhejiang University School of Medicine 1 0 0 0 0 0 1

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