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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBA1A
(M278V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(R214H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+3 more
GPathogenic/Likely pathogenic