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
91 41 376 354 125 3 840

Condition and significance breakdown #

Total conditions: 39
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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 10 5 131 75 92 0 313
not specified 0 0 40 229 75 0 308
not provided 24 12 177 14 27 0 245
Cardiovascular phenotype 1 1 36 68 35 0 141
History of neurodevelopmental disorder 0 0 27 56 25 0 108
Periventricular nodular heterotopia 1 36 18 8 1 1 1 64
Connective tissue disorder 0 0 2 38 0 0 40
Oto-palato-digital syndrome, type I 14 0 0 1 0 0 15
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 0 0 13 0 0 0 13
Cardiac valvular dysplasia, X-linked 5 1 1 0 0 0 7
FG syndrome 2 2 0 2 0 0 0 4
Frontometaphyseal dysplasia 2 0 2 0 0 0 4
Melnick-Needles syndrome 3 0 1 0 0 0 4
Oto-palato-digital syndrome, type II 4 0 0 0 0 0 4
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked 3 0 0 0 0 0 3
FLNA related disorders 0 0 2 0 0 0 2
FLNA related lung disease 1 1 0 0 0 0 2
Inborn genetic diseases 0 1 1 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 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
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 16 11 89 187 62 0 365
Invitae 13 6 131 75 92 0 317
Ambry Genetics 1 2 62 102 36 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 0 0 9 10 27 0 46
Claritas Genomics 10 15 6 5 7 0 43
Center for Human Genetics, Inc 0 0 2 38 0 0 40
OMIM 34 0 0 0 0 0 34
Athena Diagnostics Inc 1 1 4 4 10 0 20
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 4 0 0 11
Fulgent Genetics 0 0 8 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
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Baylor Miraca Genetics Laboratories, 0 1 1 0 0 0 2
Division of Genomic Diagnostics,The 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
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
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
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
Clinical Genetics,Amsterdam Medical Centre 0 0 1 0 0 0 1

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