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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
(A103D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 5
+3 more
GUncertain significance
FLNC
(P442R)
Single nucleotide variant
(missense variant)
Muscle weakness
GUncertain significance
FLNC
(P836fs)
Duplication
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
FLNC
Indel
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
FLNC
(C1103fs)
Deletion
(frameshift variant)
Dilated Cardiomyopathy, Dominant
+3 more
GPathogenic
FLNC
(K1398E)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
FLNC
(S1449P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
GUncertain significance
FLNC
(D1568fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
GPathogenic
FLNC
(I1621F)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
GLikely pathogenic
FLNC, FLNC-AS1
(G2011R +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(Q2110H +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
GUncertain significance
FLNC, FLNC-AS1
(A2427V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
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