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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
(R157G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+5 more
GUncertain significance
FLNC
(I817T)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+5 more
GConflicting classifications of pathogenicity
FLNC
(G1019C)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GConflicting classifications of pathogenicity
FLNC
(R1313Q)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+6 more
GConflicting classifications of pathogenicity
FLNC
(K1518R)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+7 more
GConflicting classifications of pathogenicity
FLNC
(P1739L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC
(E1741K)
Single nucleotide variant
(missense variant +1 more)
Distal myopathy with posterior leg and anterior hand involvement
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(R2410H +1 more)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+5 more
GConflicting classifications of pathogenicity
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