ClinVar Miner

Variants studied for Coffin-Siris syndrome

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
322 261 905 129 195 21 1737

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCA4 15 34 508 82 104 4 700
ARID1B 193 92 105 22 39 11 439
ARID1A 32 31 69 7 42 3 178
SOX11 19 44 54 3 0 0 111
SMARCC2 11 17 36 0 1 1 63
BICRA 12 8 26 0 0 0 46
SMARCB1 6 13 22 1 0 1 37
SOX4 9 6 16 0 0 0 30
DPF2 6 6 10 1 0 0 23
SMARCE1 3 1 17 0 0 0 21
SMARCD1 6 0 6 2 1 0 15
ARID1A, LOC129929837 5 0 6 1 2 0 14
ARID1B, LOC115308161 0 1 7 3 2 0 12
ARID1A, LOC126805670 1 0 4 1 1 0 7
ARID1B, LOC129997525 0 1 3 2 1 0 7
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 0 0 0 2
BICRA, EHD2 0 2 0 0 0 0 2
KDM8 0 0 2 0 0 0 2
LOC130007872, SMARCD1 0 0 2 0 0 0 2
LOC130063547, SMARCA4 0 0 0 2 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
AKAP12, ARID1B, ARMT1, CCDC170, CLDN20, CNKSR3, ESR1, FBXO5, GTF2H5, IPCEF1, LINC02840, LOC102723831, LOC105378066, LOC105378068, LOC105378073, 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
AP2S1, ARHGAP35, BBC3, BICRA, C5AR1, C5AR2, CALM3, CCDC9, DACT3, DHX34, FKRP, GNG8, INAFM1, KPTN, MEIS3, NAPA, NPAS1, PPP5D1, PRKD2, PTGIR, SAE1, SLC1A5, SLC8A2, STRN4, TMEM160, ZC3H4, ZNF541 0 1 0 0 0 0 1
ARID1B, LOC115308161, LOC129997522 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
ARID2 0 0 1 0 0 0 1
ARSL 0 1 0 0 0 0 1
BICRA, LOC121627883 0 1 0 0 0 0 1
DERL3, LOC111721701, MMP11, SLC2A11, SMARCB1 0 0 1 0 0 0 1
HR 0 0 0 0 1 0 1
LOC129995966, SOX4 0 0 1 0 0 0 1
LOC130008058, SMARCC2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 34 8 471 75 169 0 757
Fulgent Genetics, Fulgent Genetics 5 1 120 32 0 0 158
Baylor Genetics 58 31 57 0 0 0 144
Revvity Omics, Revvity 8 7 101 1 0 0 117
Illumina Laboratory Services, Illumina 7 2 21 6 74 0 110
OMIM 63 0 0 0 0 0 63
New York Genome Center 3 2 58 0 0 0 63
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 29 6 15 3 0 0 53
3billion, Medical Genetics 17 23 3 1 0 0 44
SIB Swiss Institute of Bioinformatics 4 27 6 0 0 0 37
Institute of Human Genetics, University of Leipzig Medical Center 6 11 15 2 0 0 34
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 9 2 1 1 0 19
Mendelics 11 3 2 1 1 0 18
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 12 1 0 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 0 3 12 0 0 0 15
Daryl Scott Lab, Baylor College of Medicine 5 3 6 0 0 0 14
MGZ Medical Genetics Center 1 5 7 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 8 1 0 0 13
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 10 3 0 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 0 9 4 0 0 0 13
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 9 3 0 0 0 0 12
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 3 7 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 3 0 0 0 0 11
Institute of Human Genetics, University of Goettingen 2 2 5 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 1 1 0 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 2 4 0 0 0 9
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 6 2 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 3 1 5 0 0 0 9
Laboratory of Medical Genetics, University of Torino 1 8 0 0 0 0 9
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 6 2 0 0 0 0 8
Centogene AG - the Rare Disease Company 1 4 2 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 3 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 4 1 0 0 0 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 4 1 1 1 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 3 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 4 0 0 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 3 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 2 2 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
Institute of Human Genetics, Cologne University 3 2 0 0 0 0 5
Duke University Health System Sequencing Clinic, Duke University Health System 4 1 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 2 0 0 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 2 0 3 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 3 0 0 0 5
MVZ Medizinische Genetik Mainz 0 1 4 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 2 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 4
Undiagnosed Diseases Network, NIH 1 3 0 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 2 0 0 4
Pediatric Genetics Clinic, Sheba Medical Center 3 1 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 0 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 1 0 0 0 3
Molecular Genetics Lab, CHRU Brest 2 1 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 1 1 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 0 0 0 2
Eurofins-Biomnis 2 0 0 0 0 0 2
Laboratory Division, Turku University Hospital 1 1 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Bicknell laboratory, University of Otago 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
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 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
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
North East Yorkshire Genomic Laboratory Hub 0 1 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, 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
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 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
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Shanghai WeHealth Biomedical Technology Company 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Neurogenetics and Molecular Medicine Laboratory, Institut De Recerca Sant Joan De Déu 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
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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