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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC, FLNC-AS1
(Q1802* +1 more)
Single nucleotide variant
(nonsense)
Primary familial dilated cardiomyopathy
+1 more
GPathogenic/Likely pathogenic
FLNC, FLNC-AS1
(Q2215* +1 more)
Single nucleotide variant
(nonsense)
Primary familial dilated cardiomyopathy
GLikely pathogenic
FLNC-AS1, FLNC
(Q2270* +1 more)
Single nucleotide variant
(nonsense)
Primary familial dilated cardiomyopathy
+4 more
GPathogenic
FLNC, FLNC-AS1
(K2316R +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
FLNC-AS1, FLNC
(V2406fs +1 more)
Deletion
(frameshift variant)
Primary familial dilated cardiomyopathy
GPathogenic
FLNC, FLNC-AS1
(H2476R +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+4 more
GUncertain significance
FLNC, FLNC-AS1
(I2494fs +1 more)
Deletion
(frameshift variant)
Primary familial dilated cardiomyopathy
+3 more
GLikely pathogenic
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