Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853312
rs137853312
FLNA
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.810 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221

2016
dbSNP: rs137853312
rs137853312
FLNA
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.810 GeneticVariation UNIPROT In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son. 16596676

2006
dbSNP: rs137853312
rs137853312
FLNA
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.810 GeneticVariation BEFREE In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son. 16596676

2006
dbSNP: rs137853312
rs137853312
FLNA
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.810 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003
dbSNP: rs137853312
rs137853312
FLNA
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		A 0.810 CausalMutation CLINVAR

dbSNP: rs137853314
rs137853314
FLNA
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.810 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221

2016
dbSNP: rs137853314
rs137853314
FLNA
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.810 GeneticVariation UNIPROT We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. 15940695

2005
dbSNP: rs137853314
rs137853314
FLNA
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.810 GeneticVariation BEFREE We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. 15940695

2005
dbSNP: rs137853314
rs137853314
FLNA
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.810 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003
dbSNP: rs137853314
rs137853314
FLNA
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		A 0.810 CausalMutation CLINVAR

dbSNP: rs28935470
rs28935470
FLNA
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.810 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221

2016
dbSNP: rs28935470
rs28935470
FLNA
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.810 GeneticVariation BEFREE Ex vivo characterization of E254K OPD patient fibroblasts revealed they have similar motility and adhesion as control cells, implying that many core functions mediated by FLNA are unaffected, consistent with OPD only affecting specific tissues despite FLNA being widely expressed. 19773341

2009
dbSNP: rs28935470
rs28935470
FLNA
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.810 GeneticVariation UNIPROT Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 17431908

2007
dbSNP: rs28935470
rs28935470
FLNA
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.810 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003
dbSNP: rs28935470
rs28935470
FLNA
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		T 0.810 CausalMutation CLINVAR

dbSNP: rs137853311
rs137853311
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		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: rs137853311
rs137853311
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 GeneticVariation UNIPROT Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 15994863

2006
dbSNP: rs137853311
rs137853311
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 GeneticVariation UNIPROT Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 15668422

2005
dbSNP: rs137853311
rs137853311
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 GeneticVariation UNIPROT Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 15249610

2004
dbSNP: rs137853311
rs137853311
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 GeneticVariation UNIPROT Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 11914408

2002
dbSNP: rs137853311
rs137853311
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		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: rs137853311
rs137853311
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		A 0.800 CausalMutation CLINVAR

dbSNP: rs137853313
rs137853313
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		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: rs137853313
rs137853313
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 GeneticVariation UNIPROT Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 15994863

2006
dbSNP: rs137853313
rs137853313
FLNA
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 GeneticVariation UNIPROT Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 15668422

2005