ClinVar Miner

Variants in gene FLNA

See also:
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
228 144 1795 1899 537 435 4212

Condition and significance breakdown #

Total conditions: 92
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 113 29 924 1441 476 0 2983
not provided 59 37 754 407 94 0 1235
Familial thoracic aortic aneurysm and aortic dissection 12 3 324 639 58 0 1036
not specified 1 0 119 257 116 0 428
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 329 329
FLNA-related disorder 3 16 76 140 10 3 247
Heterotopia, periventricular, X-linked dominant 42 35 33 1 2 2 112
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 3 1 36 17 3 0 60
Nonpapillary renal cell carcinoma 0 0 0 0 0 60 60
Connective tissue disorder 0 0 2 38 0 0 40
Cardiac valvular dysplasia, X-linked 8 9 19 0 0 4 35
Ovarian serous cystadenocarcinoma 0 0 0 0 0 22 22
FG syndrome 2 2 1 11 3 0 0 17
Melnick-Needles syndrome 2 5 5 1 0 3 12
Oto-palato-digital syndrome, type I 4 0 6 1 0 0 11
Frontometaphyseal dysplasia 1 2 3 6 0 0 0 10
Oto-palato-digital syndrome, type II 5 3 2 0 0 0 10
Intellectual disability 0 0 6 2 0 0 8
See cases 0 1 7 0 0 0 8
Periventricular nodular heterotopia 3 3 0 0 0 0 6
Inborn genetic diseases 1 0 4 0 0 0 5
Cervical cancer 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 4 4
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 0 0 4 0 0 0 4
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 2 0 1 1 0 1 4
Macrothrombocytopenia 0 1 2 0 0 1 4
Thrombocytopenia 0 0 3 1 0 0 4
Cardiovascular phenotype 0 1 2 0 0 0 3
Ehlers-Danlos syndrome 0 0 3 0 0 0 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Prune belly syndrome 0 2 1 0 0 0 3
Terminal osseous dysplasia-pigmentary defects syndrome 1 0 2 0 0 1 3
Attenuated frontometaphyseal dysplasia 0 2 0 0 0 0 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
FLNA related lung disease 1 1 0 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Neurodevelopmental delay 0 2 0 0 0 0 2
Otopalatodigital syndrome spectrum disorder 2 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
X-linked FLNA-related disorders 1 1 0 0 0 0 2
Abnormal bleeding; Thrombocytopenia 0 0 0 1 0 0 1
Abnormal cerebral morphology 1 0 0 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Aortic dilatation 0 0 1 0 0 0 1
CONGENITAL SHORT BOWEL SYNDROME, X-LINKED 1 0 0 0 0 0 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 0 0 0 0 0 1 1
Cardiac valvular dysplasia, X-linked; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Oto-palato-digital syndrome, type I 0 0 0 0 0 1 1
Cardiac valvular dysplasia, X-linked; Heterotopia, periventricular, X-linked dominant; Otopalatodigital Spectrum Disorders 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Congenital heart disease 0 0 1 0 0 0 1
Congenital omphalocele; Orofacial cleft; Ambiguous genitalia; Hypotonia 0 0 1 0 0 0 1
Disorder of sexual differentiation 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 1
FLNA-Related Otopalatodigital Spectrum Disorders 0 0 1 0 0 0 1
FLNA-related periventricular nodular heterotopia 1 0 0 0 0 0 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Global developmental delay; Abnormality of the face; Ventral hernia; Patent ductus arteriosus 0 1 0 0 0 0 1
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME 1 0 0 0 0 0 1
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA 1 0 0 0 0 0 1
Heart, malformation of; Hearing impairment; Flexion contracture; Thrombocytopenia 0 0 1 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 1
Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 1 0 0 0 0 0 1
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II 0 0 1 0 0 0 1
History of neurodevelopmental disorder 0 0 0 1 0 0 1
Hydronephrosis; Myopia; Abnormality of the dentition; Microcephaly; Severe intellectual disability; Ventricular septal defect 0 0 1 0 0 0 1
Incidental Discovery 0 0 1 0 0 0 1
Laterality defects, autosomal dominant 0 0 1 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 1
Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Migraine with aura 1 0 0 0 0 0 1
Myopathy, centronuclear, 2 0 0 1 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II 0 0 1 0 0 0 1
Otopalatodigital syndrome 0 0 1 0 0 0 1
Scoliosis 0 0 1 0 0 0 1
Seizure 0 1 0 0 0 0 1
Short stature; Conductive hearing impairment; Cleft palate 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Sudden unexplained death in childhood 0 0 1 0 0 0 1
Thoracic aortic aneurysm or dissection 0 0 1 0 0 0 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Vascular dilatation; Arterial thrombosis; Arterial tortuosity 0 1 0 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1
X-linked otopalatodigital spectrum disorders 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 138
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 114 29 927 1446 476 0 2992
Ambry Genetics 13 3 324 640 58 0 1038
GeneDx 29 22 523 328 108 0 1010
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 419 419
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 71 93 77 0 244
PreventionGenetics, part of Exact Sciences 1 12 67 142 19 0 241
Mayo Clinic Laboratories, Mayo Clinic 1 2 92 68 42 0 205
CeGaT Center for Human Genetics Tuebingen 8 2 58 128 2 0 198
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 48 83 47 0 179
Eurofins Ntd Llc (ga) 19 0 77 14 32 0 142
Genetic Services Laboratory, University of Chicago 1 1 45 46 16 0 109
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 35 20 0 58
Breakthrough Genomics, Breakthrough Genomics 0 0 1 19 33 0 53
Claritas Genomics 10 15 6 5 7 0 43
Fulgent Genetics, Fulgent Genetics 0 0 25 14 3 0 42
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 2 38 0 0 40
Revvity Omics, Revvity 1 5 34 0 0 0 40
Athena Diagnostics 2 1 7 4 25 0 39
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 33 6 0 39
OMIM 36 0 0 0 0 0 36
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 5 13 16 0 35
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 2 19 10 0 32
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 9 1 0 0 17
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 13 2 0 15
3billion 2 4 8 0 0 0 14
Baylor Genetics 3 1 10 0 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 3 6 2 0 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 8 2 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 6 2 0 12
Blueprint Genetics 0 1 10 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 5 0 0 0 11
GeneReviews 1 0 0 0 0 10 11
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 6 4 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 3 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 3 3 3 1 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 1 0 0 0 9
New York Genome Center 0 0 9 0 0 0 9
Centre of Medical Genetics, University of Antwerp 0 0 7 0 0 0 7
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 6 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 4 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 6 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 4 0 0 0 6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 4 1 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 3 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 2 0 0 5
Clinical Genetics Group, University of Otago 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 3 0 0 0 5
Centre of Medical Genetics, University Hospital Muenster 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 1 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 1 0 3 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 1 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 1 2 0 0 4
Variantyx, Inc. 2 2 0 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 2 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Linda Baker Laboratory, UT Southwestern Medical Center 0 2 1 0 0 0 3
Mendelics 0 0 2 0 1 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
Dasa 1 0 0 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 1 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 1 0 0 0 2
Women's and Children's Health, University of Otago 0 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 1
Molecular Genetics Center, Sichuan Provincial People's Hospital 0 1 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
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 0 0 0 1 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 0 1 0 0 0 0 1
Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Tokyo Saiseikai Central Hospital 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.