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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAFAH1B1
Single nucleotide variant
(intron variant)
Lissencephaly due to LIS1 mutation
GUncertain significance
PAFAH1B1
(S121N)
Single nucleotide variant
(missense variant)
Lissencephaly due to LIS1 mutation
GUncertain significance
PAFAH1B1
(E235fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
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