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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
HHATL, ZKSCAN7
+29 more
Copy number loss
See cases
GPathogenic
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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