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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAFAH1B1
(G162S)
Single nucleotide variant
(missense variant)
Lissencephaly due to LIS1 mutation
+1 more
GPathogenic/Likely pathogenic
PAFAH1B1
(K175*)
Single nucleotide variant
(nonsense)
Lissencephaly due to LIS1 mutation
GPathogenic
PAFAH1B1
(W284*)
Single nucleotide variant
(nonsense)
Lissencephaly due to LIS1 mutation
+1 more
GPathogenic
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