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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAFAH1B1
(K54fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PAFAH1B1
(R89*)
Single nucleotide variant
(nonsense)
Lissencephaly due to LIS1 mutation
+1 more
GPathogenic
PAFAH1B1
Single nucleotide variant
(splice acceptor variant)
Lissencephaly due to LIS1 mutation
GLikely pathogenic
PAFAH1B1
Single nucleotide variant
(splice donor variant)
Lissencephaly due to LIS1 mutation
GPathogenic
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