Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935169
rs28935169
FLNA
0.800 GeneticVariation UNIPROT A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 16299064

2006
dbSNP: rs28935169
rs28935169
FLNA
0.800 GeneticVariation UNIPROT Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 15994863

2006
dbSNP: rs28935169
rs28935169
FLNA
0.800 GeneticVariation UNIPROT Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 15668422

2005
dbSNP: rs28935169
rs28935169
FLNA
0.800 GeneticVariation UNIPROT Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 15249610

2004
dbSNP: rs28935169
rs28935169
FLNA
0.800 GeneticVariation UNIPROT Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 11914408

2002
dbSNP: rs28935169
rs28935169
FLNA
0.800 GeneticVariation UNIPROT Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 11532987

2001
dbSNP: rs28935169
rs28935169
FLNA
A 0.800 CausalMutation CLINVAR