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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA, LOC107988032
(V2584G +1 more)
Single nucleotide variant
(missense variant)
Seizure
GUncertain significance
FLNA
(Y1838fs +1 more)
Deletion
(frameshift variant)
Abnormal cerebral morphology
GPathogenic
FLNA
(G1818S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+5 more
GConflicting classifications of pathogenicity
FLNA
(V1692M +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+4 more
GConflicting classifications of pathogenicity
FLNA
(D922H)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+4 more
GUncertain significance
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