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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA
(D2310N +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+5 more
GUncertain significance
FLNA
(Y403*)
Single nucleotide variant
(nonsense)
FLNA related disorders
GLikely pathogenic
FLNA
Single nucleotide variant
(splice donor variant)
FLNA related disorders
+1 more
GLikely pathogenic
FLNA
(E27*)
Single nucleotide variant
(nonsense)
FLNA - related disorder
GLikely pathogenic
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