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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MACF1
(P2472A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
LOC114803468, MACF1
(Q2841H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GUncertain significance
MACF1
(I1970V +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(E2941K +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
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