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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNHG14, UBE3A
(M317L +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
SNHG14, UBE3A
(N252S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GBenign
SNHG14, UBE3A
(T103A +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
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