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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDE1
(R72C)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
(E1899D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
MYH11, NDE1
(K1683fs +1 more)
Deletion
(frameshift variant +1 more)
Aortic aneurysm, familial thoracic 4
GPathogenic
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