ClinVar Miner

Variants studied for Coffin-Siris syndrome 1

Coded as:
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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
160 81 112 26 42 10 414

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARID1B 153 77 95 20 39 10 378
ARID1B, LOC115308161 0 1 5 3 2 0 10
ARID1B, LOC129997525 0 0 3 2 0 0 5
ARID1B, LOC115308161, LOC129997523 0 1 2 0 1 0 4
ARID1A 2 1 0 0 0 0 3
ARID1B, LOC115308161, LOC129997524 0 0 2 1 0 0 3
ARID1B, LOC115308161, LOC129997525 0 0 2 0 0 0 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
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
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
DPF2 1 0 0 0 0 0 1
SMARCA4 0 0 1 0 0 0 1
SOX4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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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
Revvity Omics, Revvity 5 3 49 0 0 0 57
Baylor Genetics 20 5 15 0 0 0 40
3billion 15 16 0 0 0 0 31
Genetic Services Laboratory, University of Chicago 15 2 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 2 3 0 0 0 16
Fulgent Genetics, Fulgent Genetics 3 0 5 8 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 9 1 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 4 7 3 0 0 0 14
OMIM 12 0 0 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 7 0 0 0 0 12
New York Genome Center 1 1 9 0 0 0 11
Mendelics 8 0 0 0 1 0 9
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 2 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 5 1 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 4 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 5
Institute of Human Genetics, Cologne University 3 2 0 0 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 0 0 0 0 0 5
Illumina Laboratory Services, Illumina 5 0 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Laboratory of Medical Genetics, University of Torino 1 3 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
Pediatric Genetics Clinic, Sheba Medical Center 3 1 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 2 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 2 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 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 for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 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
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Shanghai WeHealth Biomedical Technology Company 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

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