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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAFAH1B1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAFAH1B1
(V221M)
Single nucleotide variant
(missense variant)
Lissencephaly due to LIS1 mutation
+1 more
GConflicting classifications of pathogenicity
PAFAH1B1
(H381R)
Single nucleotide variant
(missense variant)
Lissencephaly due to LIS1 mutation
GLikely pathogenic
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