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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
(Q159fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
FLNC
(G503D)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
FLNC
(D723E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLNC
(P1155L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+5 more
GConflicting classifications of pathogenicity
FLNC
(R1159Q)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(R1267W)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
FLNC
(R1341*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic
FLNC
(R1370Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC
(R1543W)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+5 more
GUncertain significance
FLNC
(P1711L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FLNC, FLNC-AS1
(V1896M +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(P1920L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLNC, FLNC-AS1
(I1937N +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+4 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(P2378L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLNC, FLNC-AS1
(A2427V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
FLNC-AS1, FLNC
(Y2563H +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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