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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAGEL2
(Q666fs)
Duplication
(frameshift variant)
Schaaf-Yang syndrome
+5 more
GPathogenic
SNORD116-1, SNRPN
+22 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic