ClinVar Miner

Variants studied for BAFopathy

Included ClinVar conditions (39):
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
423 327 994 366 300 25 2310

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCA4 13 34 493 82 104 4 684
ARID1B 179 80 98 20 39 11 408
ACTB 36 41 83 218 29 2 391
SMARCA2 33 24 85 24 73 2 232
ARID1A 29 25 59 7 42 3 160
ARID2 33 19 29 2 3 1 84
SOX11 18 41 19 0 0 0 68
BCL11A 23 12 23 0 1 0 58
SMARCC2 9 15 30 0 1 1 54
BCL11B 21 10 6 1 0 0 37
SMARCB1 6 13 16 0 0 1 30
SMARCE1 3 1 9 0 0 0 13
ACTL6B 5 6 4 0 1 0 12
ARID1A, LOC129929837 4 0 5 1 2 0 12
ARID1B, LOC115308161 0 1 5 3 2 0 10
ARID2, LOC130007728 3 1 2 1 0 0 7
ARID1A, LOC126805670 1 0 3 1 1 0 6
ARID1B, LOC129997525 0 1 3 2 0 0 6
ARID1B, LOC115308161, LOC129997523 0 1 2 0 1 0 4
SMARCC1 0 0 4 0 0 0 4
ACTL6A 0 0 3 0 0 0 3
ARID1B, LOC115308161, LOC129997524 0 0 2 1 0 0 3
ARID1B, LOC115308161, LOC129997525 0 0 2 0 0 0 2
KDM8 0 0 2 0 0 0 2
LOC130063547, SMARCA4 0 0 0 2 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
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
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, LINC00938, LOC130007727, LOC130007728 1 0 0 0 0 0 1
ARID2, SCAF11 1 0 0 0 0 0 1
CDKL5, RS1 0 1 0 0 0 0 1
CIC, PAFAH1B3 0 0 1 0 0 0 1
DERL3, LOC111721701, MMP11, SLC2A11, SMARCB1 0 0 1 0 0 0 1
DPF2 1 0 0 0 0 0 1
HR 0 0 0 0 1 0 1
LOC130001461, SMARCA2 0 0 1 0 0 0 1
LOC130008058, SMARCC2 0 0 1 0 0 0 1
PBRM1 0 0 1 0 0 0 1
SOX4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 135
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 34 8 471 75 199 0 787
Invitae 5 9 64 210 25 0 313
Illumina Laboratory Services, Illumina 7 3 67 20 140 0 237
Baylor Genetics 76 49 83 0 0 0 204
Revvity Omics, Revvity 8 7 109 1 0 0 125
Fulgent Genetics, Fulgent Genetics 4 2 43 61 5 0 115
OMIM 84 0 0 0 0 0 84
New York Genome Center 2 3 54 0 0 0 59
3billion 21 32 5 0 0 0 58
Institute of Human Genetics, University of Leipzig Medical Center 11 18 19 4 1 0 53
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 25 6 18 1 0 0 50
SIB Swiss Institute of Bioinformatics 4 30 7 0 0 0 41
Genetic Services Laboratory, University of Chicago 23 12 0 0 0 0 35
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 18 9 0 0 0 0 27
Mendelics 13 4 4 2 3 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 1 16 1 1 0 26
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 10 16 0 0 0 0 26
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 11 3 1 1 0 22
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 9 4 2 0 0 0 15
MGZ Medical Genetics Center 1 7 6 0 0 0 14
Department of Genetics, Robert DEBRE University Hospital 14 0 0 0 0 0 14
Institute of Human Genetics, University of Goettingen 3 3 6 0 0 0 12
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 10 2 0 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 5 7 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 3 0 0 0 0 11
Centogene AG - the Rare Disease Company 1 6 4 0 0 0 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 7 0 0 0 0 11
Laboratory of Medical Genetics, University of Torino 2 8 1 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 6 1 0 0 11
Daryl Scott Lab, Baylor College of Medicine 3 4 3 0 0 0 10
Genetics Department, University Hospital of Angers 10 0 0 0 0 0 10
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 6 3 0 0 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 4 3 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 4 1 4 0 0 0 9
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 5 2 0 0 0 9
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 2 5 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 6 0 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 3 0 0 0 0 8
GenomeConnect - Brain Gene Registry 0 0 0 0 0 8 8
Institute of Human Genetics, Cologne University 3 4 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 3 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 4 0 0 0 6
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 3 1 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 2 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 3 0 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 2 0 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 1 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 1 4 0 0 0 0 5
Duke University Health System Sequencing Clinic, Duke University Health System 4 1 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 1 0 0 0 0 5
Clinical Genomics Program, Stanford Medicine 3 0 2 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 3 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Pediatric Genetics Clinic, Sheba Medical Center 3 2 0 0 0 0 5
Suma Genomics 1 3 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 2 0 0 0 0 4
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 1 0 0 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 4 0 0 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 3 1 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 1 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 0 4 0 0 0 4
Laboratory of Molecular Genetics, CHU RENNES 0 3 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 2 0 0 0 3
Undiagnosed Diseases Network, NIH 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 1 0 0 3
Molecular Genetics Lab, CHRU Brest 2 1 0 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 2 0 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
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 2 0 2
Eurofins-Biomnis 2 0 0 0 0 0 2
Laboratory Division, Turku University Hospital 1 1 0 0 0 0 2
Laboratory of genome editing, Research Centre for Medical Genetics 0 2 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 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
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 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
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 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
Department of Laboratory Medicine, 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Houlden Lab, UCL Institute of Neurology 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
2nd Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens 1 0 0 0 0 0 1
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Shanghai WeHealth Biomedical Technology Company 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Pediatric Neurology, The Children’s Hospital, Zhejiang University School of Medicine 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Child and Adolescent Psychiatry Residency Program, Foundation for Education and Research in Health Sciences 1 0 0 0 0 0 1
Jpch, Dept Of Neurology, Jiangxi Provincial Children’s Hospital 1 0 0 0 0 0 1

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