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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP85L
(I712T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 10
GUncertain significance
CEP85L
(D624fs +1 more)
Deletion
(frameshift variant)
Lissencephaly 10
GUncertain significance
CEP85L
Single nucleotide variant
(intron variant)
Lissencephaly 10
GUncertain significance
CEP85L
(E368G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 10
GUncertain significance
CEP85L
(R151fs +1 more)
Deletion
(frameshift variant)
Lissencephaly 10
GUncertain significance
CEP85L, LOC129997071
(G12R)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly 10
GUncertain significance
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