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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MACF1
Single nucleotide variant
(intron variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(P4298L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(M4351T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(N4925K +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(E5143Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
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