ClinVar Miner

Variants in gene FLNA

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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
128 59 630 560 191 4 1351

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 26 6 248 220 121 0 621
not provided 41 16 200 122 57 0 417
not specified 1 0 43 233 78 0 317
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 13 4 130 18 2 0 167
Cardiovascular phenotype 1 1 33 69 37 0 141
History of neurodevelopmental disorder 0 0 25 56 27 0 108
Periventricular nodular heterotopia 1 30 21 11 1 2 2 65
none provided 0 0 5 17 26 0 48
Connective tissue disease 0 0 2 38 0 0 40
Cardiac valvular dysplasia, X-linked 8 5 9 0 0 0 21
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; 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; Frontometaphyseal dysplasia 1 0 0 13 0 0 0 13
FG syndrome 2 1 1 6 2 0 0 10
Melnick-Needles syndrome 3 0 4 1 0 0 8
Intellectual disability 0 0 4 2 0 0 6
Oto-palato-digital syndrome, type I 4 0 1 1 0 0 6
Inborn genetic diseases 1 0 4 0 0 0 5
Oto-palato-digital syndrome, type II 4 1 0 0 0 0 5
FLNA related disorders 0 0 4 0 0 0 4
Frontometaphyseal dysplasia 1 2 0 2 0 0 0 4
Prune belly syndrome 0 2 1 0 0 0 3
FLNA related lung disease 1 1 0 0 0 0 2
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 2 0 0 0 0 0 2
Otopalatodigital spectrum disorder 2 0 0 0 0 0 2
Terminal osseous dysplasia 1 0 1 0 0 0 2
Abnormal bleeding; Thrombocytopenia 0 0 0 1 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; Periventricular nodular heterotopia 1; 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
Colitis; Inflammation of the large intestine; Hematochezia; Thrombocytopenia 0 0 1 0 0 0 1
Congenital short bowel syndrome, X-linked 1 0 0 0 0 0 1
Dilatation; Arterial thrombosis; Arterial tortuosity 0 1 0 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 0 0 0 0 1 1
FLNA-related otopalatodigital spectrum disorders 0 0 1 0 0 0 1
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME 1 0 0 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 1
Heterotopia, periventricular, with frontometaphyseal dysplasia 1 0 0 0 0 0 1
Hydronephrosis; Myopia (disease); Abnormality of the dentition; Microcephaly; Intellectual disability, severe; Ventricular septal defect 0 0 1 0 0 0 1
Macrothrombocytopenia 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
Periventricular nodular heterotopia 0 1 0 0 0 0 1
Periventricular nodular heterotopia 1; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 1 0 0 0 0 0 1
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II 0 0 1 0 0 0 1
Scoliosis 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1
Short stature; Conductive hearing impairment; Cleft palate 1 0 0 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 10 376 294 144 0 864
GeneDx 17 13 89 206 82 0 407
Ambry Genetics 2 1 61 104 40 0 206
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 19 0 77 14 32 0 142
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 17 35 41 0 94
Genetic Services Laboratory, University of Chicago 0 0 35 36 14 0 85
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
OMIM 36 0 0 0 0 0 36
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 26 5 0 0 34
Athena Diagnostics Inc 1 1 6 4 17 0 29
Baylor Genetics 3 1 8 0 0 0 12
PreventionGenetics, PreventionGenetics 0 0 0 3 9 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 8 2 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 5 0 0 0 11
Fulgent Genetics,Fulgent Genetics 0 0 8 0 0 0 8
Blueprint Genetics 0 1 7 0 0 0 8
GeneReviews 7 0 0 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 1 0 0 5
Clinical Genetics Group,University of Otago 5 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 1 2 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 2 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 2 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 0 3 0 0 0 3
Linda Baker Laboratory, UT Southwestern Medical Center 0 2 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 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
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 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
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
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
CHLA 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 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
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1

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