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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
Single nucleotide variant
(intron variant)
Distal myopathy with posterior leg and anterior hand involvement
+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)
Myofibrillar myopathy 5
+3 more
GPathogenic
FLNC
(K1398E)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
GUncertain significance
FLNC
(D1568fs)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
FLNC
(I1621F)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
GLikely pathogenic
FLNC, FLNC-AS1
(G2011R +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+4 more
GPathogenic/Likely pathogenic
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)
Hypertrophic cardiomyopathy 26
+5 more
GConflicting classifications of pathogenicity
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