ClinVar Miner

Variants in gene FLNA

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Minimum submission review status: Collection method:
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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
181 109 1351 1533 500 17 3060

Condition and significance breakdown #

Total conditions: 67
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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 78 23 694 1166 446 0 2407
not provided 55 28 527 324 89 0 943
Familial thoracic aortic aneurysm and aortic dissection 4 3 175 394 26 0 602
not specified 1 0 73 194 90 0 318
FLNA-related condition 0 8 49 121 10 0 188
Heterotopia, periventricular, X-linked dominant 35 26 25 1 2 2 88
History of neurodevelopmental disorder 0 0 2 23 24 0 49
Cardiovascular phenotype 0 0 1 21 26 0 48
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 0 0 28 16 3 0 47
Connective tissue disorder 0 0 2 38 0 0 40
Inborn genetic diseases 2 0 27 2 0 0 31
Cardiac valvular dysplasia, X-linked 7 6 16 0 0 4 29
FG syndrome 2 1 1 10 2 0 0 14
FLNA related disorders 1 2 5 0 0 2 10
Oto-palato-digital syndrome, type I 4 0 5 1 0 0 10
Melnick-Needles syndrome 2 2 4 1 0 3 9
Oto-palato-digital syndrome, type II 5 2 1 0 0 0 8
Intellectual disability 0 0 4 2 0 0 6
Frontometaphyseal dysplasia 1 2 0 3 0 0 0 5
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 0 0 5 0 0 0 5
Macrothrombocytopenia 0 1 2 0 0 1 4
See cases 0 1 3 0 0 0 4
Thrombocytopenia 0 0 3 1 0 0 4
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 2 0 0 1 0 1 3
Prune belly syndrome 0 2 1 0 0 0 3
Stroke disorder 0 0 3 0 0 0 3
Attenuated frontometaphyseal dysplasia 0 2 0 0 0 0 2
FLNA related lung disease 1 1 0 0 0 0 2
Neurodevelopmental delay 0 2 0 0 0 0 2
Otopalatodigital syndrome spectrum disorder 2 0 0 0 0 0 2
Terminal osseous dysplasia-pigmentary defects syndrome 1 0 1 0 0 1 2
Abnormal bleeding; Thrombocytopenia 0 0 0 1 0 0 1
Abnormal cerebral morphology 1 0 0 0 0 0 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Aortic dilatation 0 0 1 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; Otopalatodigital Spectrum Disorders 0 0 0 0 0 1 1
Chronic lung disease 0 0 1 0 0 0 1
Colitis; Inflammation of the large intestine; Hematochezia; Thrombocytopenia 0 0 1 0 0 0 1
Congenital omphalocele; Orofacial cleft; Ambiguous genitalia; Hypotonia 0 0 1 0 0 0 1
Congenital short bowel syndrome, X-linked 1 0 0 0 0 0 1
Disorder of sexual differentiation 0 0 1 0 0 0 1
Ehlers-Danlos syndrome 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 1
FLNA - related disorder 0 1 0 0 0 0 1
FLNA-related disorder 0 0 0 0 0 1 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
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
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
Heterotopia, periventricular, with frontometaphyseal dysplasia 1 0 0 0 0 0 1
Hydronephrosis; Myopia; Abnormality of the dentition; Microcephaly; Intellectual disability, severe; Ventricular septal defect 0 0 1 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Migraine with aura 1 0 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Periventricular nodular heterotopia 0 1 0 0 0 0 1
Scoliosis 0 0 1 0 0 0 1
Short stature; Conductive hearing impairment; Cleft palate 1 0 0 0 0 0 1
Sudden unexplained death in childhood 0 0 1 0 0 0 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

Submitter and significance breakdown #

Total submitters: 108
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 79 23 699 1172 446 0 2419
GeneDx 24 18 341 329 108 0 820
Ambry Genetics 6 3 204 419 52 0 682
PreventionGenetics, part of Exact Sciences 0 8 48 123 19 0 198
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 36 61 44 0 142
Eurofins Ntd Llc (ga) 19 0 77 14 32 0 142
CeGaT Center for Human Genetics Tuebingen 8 0 42 69 1 0 120
Genetic Services Laboratory, University of Chicago 1 1 45 46 16 0 109
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 25 25 48 0 98
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 35 20 0 58
Claritas Genomics 10 15 6 5 7 0 43
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 2 38 0 0 40
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 33 6 0 39
Fulgent Genetics, Fulgent Genetics 0 0 21 14 3 0 38
OMIM 36 0 0 0 0 0 36
Mayo Clinic Laboratories, Mayo Clinic 1 0 34 0 0 0 35
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 5 13 16 0 35
Revvity Omics, Revvity 1 4 27 0 0 0 32
Athena Diagnostics Inc 2 1 6 4 17 0 30
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 13 2 0 15
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
GeneReviews 1 0 0 0 0 10 11
Blueprint Genetics 0 1 10 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 5 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 3 0 0 10
New York Genome Center 0 0 9 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 1 0 0 7
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 7
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 6 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 2 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Clinical Genetics Group, University of Otago 5 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 3 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 1 2 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 3 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 0 0 4 0 0 0 4
3billion 1 1 2 0 0 0 4
Mendelics 0 0 2 0 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 2 0 0 0 3
Centre of Medical Genetics, University of Antwerp 0 0 3 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
Linda Baker Laboratory, UT Southwestern Medical Center 0 2 1 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Women's and Children's Health, University of Otago 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 0 0 1 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 1 0 0 0 1
Molecular Genetics Center, Sichuan Provincial People's Hospital 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 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
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1

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