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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEDD4L
(N205S +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(G306R +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+2 more
GConflicting classifications of pathogenicity
NEDD4L
(P324S +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
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