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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
(G722S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
FLNC
(G1546S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic/Likely pathogenic
FLNC
(R1762C)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(Y2650* +1 more)
Single nucleotide variant
(nonsense)
Distal myopathy with posterior leg and anterior hand involvement
GUncertain significance
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