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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060786, LOC130060787
+633 more
Copy number gain
See cases
GPathogenic
EZH1
(L726F +3 more)
Single nucleotide variant
(missense variant)
EZH1-neurodevelopmental syndrome
+1 more
GUncertain significance
EZH1
(C414Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EZH1
(N334D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EZH1
(I286V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EZH1
(R260Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EZH1
(G239S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EZH1
(M213T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EZH1
(T53N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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