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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
FPGS, LOC130002663
(I22V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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