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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
AAAS, AMHR2
+74 more
Copy number loss
See cases
GPathogenic
AAAS, AMHR2
+114 more
Copy number loss
See cases
GPathogenic
PMEL, PPP1R1A
+219 more
Copy number gain
See cases
GPathogenic
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