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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERMARD
Single nucleotide variant
(splice donor variant)
Periventricular nodular heterotopia 6
GUncertain significance
AFDN, C6orf120
+13 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf120
+26 more
Copy number loss
not provided
GPathogenic
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