FLNA Chromosome X

Filamin A
695 variants 695 Health Risk

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What This Gene Does
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Filamin family
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000196924
Associated Conditions (77)
Melnick-Needles syndrome
Oto-palato-digital syndrome
type II
Heterotopia
periventricular
X-linked dominant
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
Thoracic aortic aneurysm or dissection
FLNA-related disorder
Cardiac valvular dysplasia
X-linked
Neurodevelopmental delay
type I
History of neurodevelopmental disorder
9 conditions
+57 more conditions
Key Variants
RS1004772663
Conflicting classifications of pathogenicity
Melnick-Needles syndrome, Oto-palato-digital syndrome, type II
Health Risk
RS10458342
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Heterotopia, periventricular
Health Risk
RS1057518479
Conflicting classifications of pathogenicity
Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
Health Risk
RS1057520770
Conflicting classifications of pathogenicity
Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
Health Risk
RS1057524317
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057524434
Conflicting classifications of pathogenicity
Frontometaphyseal dysplasia, Heterotopia, periventricular
Health Risk
RS1057524473
Conflicting classifications of pathogenicity
Melnick-Needles syndrome, Frontometaphyseal dysplasia, Heterotopia
Health Risk
RS1064796297
Conflicting classifications of pathogenicity
Thoracic aortic aneurysm or dissection, Thoracic aortic aneurysm or dissection
Health Risk
RS1085307783
Conflicting classifications of pathogenicity
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
Health Risk
RS111516546
Conflicting classifications of pathogenicity
Heterotopia, periventricular, X-linked dominant
Health Risk
RS1131691935
Conflicting classifications of pathogenicity
Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
Health Risk
RS1172505050
Conflicting classifications of pathogenicity
Heterotopia, periventricular, X-linked dominant
Health Risk
All Variants (695)
RSID Category Clinical Significance Conditions
RS200116438 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS200130356 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS200200745 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS200278701 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS200363918 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS200524526 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS200615848 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 2, Heterotopia
RS200626788 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Oto-palato-digital syndrome, type II
RS200632859 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS200660642 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Melnick-Needles syndrome, Heterotopia
RS200673062 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS200832880 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS200836471 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS200857989 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS200956777 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS201073998 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
RS201153928 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS201396725 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS201523624 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS201681328 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia, periventricular
RS201762017 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia, periventricular
RS201886752 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS202029322 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Heterotopia, periventricular
RS202152952 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia, periventricular
RS202181557 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS2067677205 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS2067683151 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS2067687057 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS2067691272 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS2067710654 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS2067745159 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS2067761169 Health Risk Conflicting classifications of pathogenicity FLNA-related disorder, Familial thoracic aortic aneurysm and aortic dissection, FLNA-related disorder
RS2148102297 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS2148107375 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2148111675 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS2148113975 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS2148119483 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS2522721656 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia, Heterotopia
RS2522771333 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS267606815 Health Risk Conflicting classifications of pathogenicity Cardiac valvular dysplasia, X-linked, Cardiac valvular dysplasia
RS367655833 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS367674709 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS367948333 Health Risk Conflicting classifications of pathogenicity FG syndrome 2, Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia
RS368038166 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS368187218 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS368441729 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS368536975 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS369179210 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS369583365 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS369668866 Health Risk Conflicting classifications of pathogenicity FG syndrome 2, Oto-palato-digital syndrome, type II
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