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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
AAAS, AMHR2
+114 more
Copy number loss
See cases
GPathogenic
PMEL, PPP1R1A
+219 more
Copy number gain
See cases
GPathogenic
FAM242C, FLJ12825
+40 more
Copy number gain
See cases
GLikely benign
AMHR2, ATF7
+26 more
Deletion
Neurodevelopmental disorder
GPathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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