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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
AAK1, ACTR2
+216 more
Copy number loss
See cases
GLikely pathogenic
ETAA1, HCNR606
+40 more
Copy number gain
See cases
GUncertain significance
ETAA1, HHC2:066644
+11 more
Copy number loss
See cases
GUncertain significance
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