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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
ACD, AGRP
+217 more
Copy number loss
See cases
GPathogenic
ACD, AGRP
+155 more
Copy number loss
See cases
GPathogenic
E2F4, ELMO3
(K13Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
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