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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
FLNC-AS1, FLNC
(A1792T +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GLikely benign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GLikely benign
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+4 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(R1860C +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign
FLNC, FLNC-AS1
(I1882V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(G1865fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Cardiomyopathy
GLikely pathogenic
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GLikely benign
FLNC, FLNC-AS1
(A1889T +1 more)
Inversion
(missense variant)
Myofibrillar myopathy 5
+6 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(A1922T +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GBenign
FLNC, FLNC-AS1
(A1922V +1 more)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
FLNC-AS1, FLNC
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 5
+7 more
GBenign/Likely benign
FLNC, FLNC-AS1
(T1943I +1 more)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+6 more
GUncertain significance
FLNC, FLNC-AS1
(S1985L +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+8 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Dominant
+5 more
GBenign
FLNC-AS1, FLNC
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(R1985C +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(K2010N +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
FLNC, FLNC-AS1
(V2059M +1 more)
Single nucleotide variant
(missense variant)
FLNC-related disorder
+7 more
GBenign/Likely benign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+6 more
GLikely benign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+7 more
GBenign/Likely benign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GLikely benign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Distal myopathy with posterior leg and anterior hand involvement
+7 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(S2225L +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GLikely benign
FLNC, FLNC-AS1
(R2326* +1 more)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+6 more
GPathogenic
FLNC, FLNC-AS1
(E2358K +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(R2364H +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+8 more
GBenign/Likely benign
FLNC, FLNC-AS1
(V2371I +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(T2386M +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(V2463fs +1 more)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
FLNC-AS1, FLNC
Single nucleotide variant
(synonymous variant)
Distal myopathy with posterior leg and anterior hand involvement
+6 more
GBenign
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign/Likely benign
FLNC-AS1, FLNC
(R2621Q +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+6 more
GConflicting classifications of pathogenicity
FLNC-AS1, FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+9 more
GBenign/Likely benign
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
FLNC-AS1, FLNC
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 5
+4 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(M2668T +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+6 more
GLikely benign
FLNC, FLNC-AS1
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
+1 more
GBenign
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