ClinVar Miner

Variants in gene FLNB

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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
93 83 1452 1289 270 113 2887

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 71 39 1105 1230 257 1 2528
Inborn genetic diseases 1 0 291 58 1 0 351
FLNB-Related Spectrum Disorders 1 0 158 54 34 0 247
not specified 0 2 48 64 52 0 156
FLNB-related disorder 1 6 35 65 3 3 113
Connective tissue disorder 0 2 27 15 15 0 59
Larsen syndrome 9 13 20 2 0 12 49
Spondylocarpotarsal synostosis syndrome 15 17 7 2 0 5 41
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2 0 25 10 0 0 37
Atelosteogenesis type I 4 1 9 0 0 6 20
Atelosteogenesis type III 2 2 6 0 0 4 14
Cervical cancer 0 0 0 0 0 13 13
Ovarian serous cystadenocarcinoma 0 0 0 0 0 12 12
Hepatocellular carcinoma 0 0 0 0 0 11 11
Malignant tumor of esophagus 0 0 0 0 0 8 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 7 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 6 6
Sarcoma 0 0 0 0 0 6 6
Thymoma 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Boomerang dysplasia 2 0 1 1 0 0 4
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
See cases 1 1 1 0 0 0 3
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome; FLNB-Related Spectrum Disorders 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Abnormality of the skeletal system 0 1 0 0 0 0 1
Arthrogryposis 0 1 0 0 0 0 1
Arthrogryposis syndrome 0 0 1 0 0 0 1
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Larsen syndrome 0 0 1 0 0 0 1
Atelosteogenesis type III; Atelosteogenesis type I; Larsen syndrome 0 0 1 0 0 0 1
Atelosteogenesis type III; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Patellar hypoplasia; Knee dislocation; Limited knee flexion/extension 0 1 0 0 0 0 1
Severe postnatal growth retardation; Synostosis involving bones of the lower limbs 0 0 1 0 0 0 1
Short stature 0 1 0 0 0 0 1
Short stature; Abnormality of the vertebral column 0 0 1 0 0 0 1
Skeletal dysplasia 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 62 29 897 1099 134 0 2221
GeneDx 6 8 172 135 160 0 481
Ambry Genetics 1 0 291 58 1 0 351
Illumina Laboratory Services, Illumina 0 0 158 54 34 0 246
Breakthrough Genomics, Breakthrough Genomics 0 0 5 54 81 0 140
PreventionGenetics, part of Exact Sciences 1 5 35 68 24 0 133
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 33 39 39 0 113
CeGaT Center for Human Genetics Tuebingen 2 0 25 67 2 0 96
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 80 80
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 27 15 15 0 59
Eurofins Ntd Llc (ga) 1 0 34 11 11 0 57
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 30 16 0 0 47
Revvity Omics, Revvity 1 3 27 0 0 0 31
GeneReviews 0 0 0 0 0 29 29
Fulgent Genetics, Fulgent Genetics 0 0 14 7 0 0 21
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 9 2 0 16
OMIM 16 0 0 0 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 12 3 0 0 15
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 7 0 13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 5 1 0 0 0 12
Blueprint Genetics 1 2 8 0 0 0 11
3billion 1 2 5 2 0 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 4 1 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 6 2 0 8
Baylor Genetics 0 0 6 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 5 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 4 1 0 0 6
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 2 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 3 1 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 3 1 0 0 0 4
Mendelics 1 1 1 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 1 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 1 0 0 0 3
Dasa 3 0 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 1 1 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 1 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Women's and Children's Health, University of Otago 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1

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