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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA, LOC107988032
(V2616M +1 more)
Single nucleotide variant
(missense variant)
Frontometaphyseal dysplasia
+6 more
GUncertain significance
FLNA
(R2280H +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+11 more
GConflicting classifications of pathogenicity