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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EZH2
(S615F +4 more)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
EZH2
(V604M +4 more)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
EZH2
(A487T +3 more)
Single nucleotide variant
(missense variant)
Weaver syndrome
GBenign
EZH2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EZH2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
EZH2
(G394A +3 more)
Single nucleotide variant
(missense variant)
Weaver syndrome
GUncertain significance
EZH2
(N322S +3 more)
Single nucleotide variant
(missense variant)
Weaver syndrome
GConflicting classifications of pathogenicity
EZH2
(T283M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EZH2
(D189del +2 more)
Microsatellite
(inframe_deletion)
Weaver syndrome
GUncertain significance
EZH2
(D185H +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
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