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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA, LOC107988032
(V2621fs +1 more)
Duplication
(frameshift variant)
Heterotopia, periventricular, X-linked dominant
GPathogenic
FLNA
(E981*)
Single nucleotide variant
(nonsense)
Heterotopia, periventricular, X-linked dominant
GPathogenic