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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNHG14, UBE3A
Deletion
(inframe_deletion +1 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(G176V +5 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
UBE3A, SNHG14
(G170fs +5 more)
Deletion
(frameshift variant +1 more)
Angelman syndrome
GLikely pathogenic
SNHG14, UBE3A
(R482* +3 more)
Single nucleotide variant
(nonsense +2 more)
Angelman syndrome
+1 more
GPathogenic
SNHG14, UBE3A
(W9*)
Single nucleotide variant
(nonsense +2 more)
Angelman syndrome
GLikely benign
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