Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045044
rs797045044
FLNA
T 0.700 CausalMutation CLINVAR A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. 26804200

2016
dbSNP: rs797045044
rs797045044
FLNA
T 0.700 CausalMutation CLINVAR Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 26686323

2016
dbSNP: rs1557176315
rs1557176315
FLNA
G 0.700 GeneticVariation CLINVAR 47 patients with FLNA associated periventricular nodular heterotopia. 26471271

2015
dbSNP: rs1557177485
rs1557177485
FLNA
A 0.700 GeneticVariation CLINVAR 47 patients with FLNA associated periventricular nodular heterotopia. 26471271

2015
dbSNP: rs786205186
rs786205186
FLNA
T 0.700 CausalMutation CLINVAR 47 patients with FLNA associated periventricular nodular heterotopia. 26471271

2015
dbSNP: rs1557176315
rs1557176315
FLNA
G 0.700 GeneticVariation CLINVAR Combined cardiological and neurological abnormalities due to filamin A gene mutation. 20730588

2011
dbSNP: rs1557177485
rs1557177485
FLNA
A 0.700 GeneticVariation CLINVAR Combined cardiological and neurological abnormalities due to filamin A gene mutation. 20730588

2011
dbSNP: rs786205186
rs786205186
FLNA
T 0.700 CausalMutation CLINVAR Combined cardiological and neurological abnormalities due to filamin A gene mutation. 20730588

2011
dbSNP: rs137853317
rs137853317
FLNA
A 0.700 GeneticVariation CLINVAR A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 17264970

2007
dbSNP: rs137853312
rs137853312
FLNA
A 0.700 CausalMutation CLINVAR Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 16596676

2006
dbSNP: rs137853312
rs137853312
FLNA
A 0.700 CausalMutation CLINVAR Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 16835913

2006
dbSNP: rs1557176315
rs1557176315
FLNA
G 0.700 GeneticVariation CLINVAR Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 16684786

2006
dbSNP: rs1557177485
rs1557177485
FLNA
A 0.700 GeneticVariation CLINVAR Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 16684786

2006
dbSNP: rs786205186
rs786205186
FLNA
T 0.700 CausalMutation CLINVAR Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 16684786

2006
dbSNP: rs137853312
rs137853312
FLNA
A 0.700 CausalMutation CLINVAR A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 15523633

2005
dbSNP: rs137853317
rs137853317
FLNA
A 0.700 GeneticVariation CLINVAR Molecular pathology of filamin A: diverse phenotypes, many functions. 15194946

2004
dbSNP: rs137853317
rs137853317
FLNA
A 0.700 GeneticVariation CLINVAR Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003
dbSNP: rs1060500716
rs1060500716
FLNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500718
rs1060500718
FLNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1557177086
rs1557177086
FLNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557177279
rs1557177279
FLNA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557177623
rs1557177623
FLNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557177636
rs1557177636
FLNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1557177738
rs1557177738
FLNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557179357
rs1557179357
FLNA
CGTTATTGGCG 0.700 CausalMutation CLINVAR