Gene: FLNC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1382734231
rs1382734231
FLNC ; FLNC-AS1
T 0.700 CausalMutation CLINVAR Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. 30260051

2018
dbSNP: rs1563005534
rs1563005534
FLNC ; FLNC-AS1
G 0.700 CausalMutation CLINVAR Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. 30260051

2018
dbSNP: rs1554401403
rs1554401403
FLNC ; FLNC-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167361
rs1114167361
FLNC
0.010 GeneticVariation BEFREE Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three probands and c.[3547G>C; 3548C>T], p.A1183L, rs1131692185 in one proband). 29858533

2018
dbSNP: rs1131692185
rs1131692185
FLNC
0.010 GeneticVariation BEFREE Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three probands and c.[3547G>C; 3548C>T], p.A1183L, rs1131692185 in one proband). 29858533

2018