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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDE1
(R37*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NDE1
(S291F)
Single nucleotide variant
(missense variant)
Lissencephaly 4
+2 more
GConflicting classifications of pathogenicity
NDE1
Copy number loss
Lissencephaly 4
GPathogenic
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