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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
(F1083I)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GUncertain significance
FLNC
(T1667M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(I1781V +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC, FLNC-AS1
(E1976fs +1 more)
Duplication
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
FLNC, FLNC-AS1
(G2118S +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
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