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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC, LOC129999273
(D708E)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC, LOC129999273
(D710N)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+7 more
GConflicting classifications of pathogenicity
FLNC, LOC129999273
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GLikely benign
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