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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
AK1, ASB6
+264 more
Copy number loss
See cases
GPathogenic
ASB6, BBLN
+239 more
Copy number gain
See cases
GPathogenic
GOLGA2
(E584del +11 more)
Microsatellite
(inframe_deletion)
not provided
GBenign
GOLGA2
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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