ClinVar Miner

Variants in gene FLNA

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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
100 49 445 467 191 4 1058

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 37 15 197 199 155 0 555
not specified 1 0 43 234 77 0 317
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 15 5 184 26 13 0 243
Cardiovascular phenotype 1 1 33 69 37 0 141
History of neurodevelopmental disorder 0 0 26 55 27 0 108
Periventricular nodular heterotopia 1 26 20 8 1 2 2 57
Connective tissue disorder 0 0 2 38 0 0 40
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
Cardiac valvular dysplasia, X-linked 7 2 1 0 0 0 9
FG syndrome 2 1 0 3 0 0 0 4
FLNA related disorders 0 0 4 0 0 0 4
Frontometaphyseal dysplasia 1 2 0 2 0 0 0 4
Melnick-Needles syndrome 3 0 1 0 0 0 4
Oto-palato-digital syndrome, type I 3 0 0 1 0 0 4
Oto-palato-digital syndrome, type II 4 0 0 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
Inborn genetic diseases 0 1 1 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
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
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME 1 0 0 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
Macrothrombocytopenia 0 0 1 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 1
Migraine with aura 1 0 0 0 0 0 1
Periventricular nodular heterotopia 1; Intestinal pseudoobstruction neuronal chronic idiopathic X-linked 1 0 0 0 0 0 1
Scoliosis 0 0 1 0 0 0 1
Seizures; Intellectual disability; Subependymal nodules 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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 6 184 197 144 0 549
GeneDx 17 13 89 206 82 0 407
Ambry Genetics 1 2 59 103 40 0 203
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 0 77 14 32 0 142
Genetic Services Laboratory, University of Chicago 0 0 35 37 13 0 85
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 12 21 35 0 69
Claritas Genomics 10 15 6 5 7 0 43
Center for Human Genetics, Inc 0 0 2 38 0 0 40
OMIM 36 0 0 0 0 0 36
Athena Diagnostics Inc 1 1 7 4 13 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 21 4 0 0 25
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
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Linda Baker Laboratory, UT Southwestern Medical Center 0 2 1 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Division of Genomic Diagnostics,The 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: University of Minnesota 1 1 0 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 Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 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

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