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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA, LOC107988032
(R2520H +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+5 more
GConflicting classifications of pathogenicity
FLNA
(S1199L)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+3 more
GPathogenic/Likely pathogenic
FLNA
(Y373*)
Single nucleotide variant
(nonsense)
Heterotopia, periventricular, X-linked dominant
GLikely pathogenic
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