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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBA1A
(E411G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(G321D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(V9A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
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