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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA, LOC107988032
(C2535Y +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+12 more
GConflicting classifications of pathogenicity
FLNA
Deletion
(nonsense)
Heterotopia, periventricular, X-linked dominant
GPathogenic