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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068841, LOC130068842
+45 more
Copy number gain
Syndromic X-linked intellectual disability Lubs type
GPathogenic
FLNA, LOC107988032
(W2632* +1 more)
Single nucleotide variant
(nonsense)
Heterotopia, periventricular, X-linked dominant
GPathogenic