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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNHG14, UBE3A
(M316T +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Microsatellite
(nonsense +2 more)
not provided
+1 more
GPathogenic