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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA, LOC107988032
(V2616M +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GUncertain significance
FLNA
(R2280H +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+11 more
GConflicting classifications of pathogenicity
FLNA
(G1213S)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(H56R)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+3 more
GUncertain significance
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