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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
(G15V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
FLNC
Duplication
(inframe_insertion)
not provided
+4 more
GUncertain significance
FLNC
(S65G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FLNC
(D150G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FLNC
(R183C)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLNC
(I279L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLNC
(A305V)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+5 more
GUncertain significance
FLNC
(E365G)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+5 more
GConflicting classifications of pathogenicity
FLNC
(V368M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC
(G389D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+7 more
GConflicting classifications of pathogenicity
FLNC
(S506N)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC
(G507R)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
FLNC
(K514R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(F690L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLNC
(N721K)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC
(R766Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+5 more
GConflicting classifications of pathogenicity
FLNC
(R879C)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+6 more
GConflicting classifications of pathogenicity
FLNC
(G948R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FLNC
(V1198L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC
(G1232fs)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic
FLNC
(G1285S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(H1287fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
FLNC
(R1354G)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
FLNC
(K1394E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FLNC
(A1475V)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(K1518R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLNC
(L1573fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
FLNC
(V1643fs)
Insertion
(frameshift variant)
Myofibrillar myopathy 5
+5 more
GPathogenic/Likely pathogenic
FLNC
(V1641I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC
(T1664M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+6 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(A1889T +1 more)
Inversion
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(R2190C +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+4 more
GUncertain significance
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
FLNC, FLNC-AS1
(V2264L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLNC, FLNC-AS1
(R2364C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(G2370S +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(R2495H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(V2496A +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC, FLNC-AS1
(V2581M +1 more)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+5 more
GUncertain significance
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