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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNHG14, UBE3A
(Y308fs +6 more)
Duplication
(frameshift variant +2 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign