FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935470
rs28935470
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1844696
Disease:
OTOPALATODIGITAL SYNDROME, TYPE II 		T 0.810 CausalMutation CLINVAR
dbSNP: rs28935472
rs28935472
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1557175424
rs1557175424
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1837249
Disease:
Malformations of Cortical Development, Group II 		T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs1557175424
rs1557175424
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1848213
Disease:
Periventricular Heterotopia, X-Linked 		T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs1557177279
rs1557177279
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557177279
rs1557177279
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1844696
Disease:
OTOPALATODIGITAL SYNDROME, TYPE II 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557177279
rs1557177279
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0265293
Disease:
Frontometaphyseal dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557177279
rs1557177279
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1848213
Disease:
Periventricular Heterotopia, X-Linked 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557178535
rs1557178535
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1868720
Disease:
Periventricular Nodular Heterotopia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557178535
rs1557178535
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0238062
Disease:
Chronic intestinal pseudo-obstruction 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557178535
rs1557178535
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C2746068
Disease:
Congenital idiopathic intestinal pseudoobstruction 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557178535
rs1557178535
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1848213
Disease:
Periventricular Heterotopia, X-Linked 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557179325
rs1557179325
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1836646
Disease:
Dermal translucency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557179325
rs1557179325
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1848213
Disease:
Periventricular Heterotopia, X-Linked 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557179325
rs1557179325
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C1868720
Disease:
Periventricular Nodular Heterotopia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557179325
rs1557179325
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0086437
Disease:
Joint laxity 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 11532987 2001
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 16926860 2007
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 16835913 2006
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. 27739212 2017
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Filamin A: phenotypic diversity. 15917206 2005
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations. 28411558 2017
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. 23037936 2013
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. 28106320 2017
dbSNP: rs1557179659
rs1557179659
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 11914408 2002