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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAFAH1B1
(V111fs)
Duplication
(frameshift variant)
Lissencephaly due to LIS1 mutation
Gnot provided
PAFAH1B1
(H337fs)
Deletion
(frameshift variant)
not provided
GPathogenic