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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYFIP2
(M438R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
GUncertain significance
CYFIP2
(R514* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 65
GUncertain significance
CYFIP2
(Q612K +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
GUncertain significance
CYFIP2
(N696D +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
GUncertain significance
CYFIP2
(I819T +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
+1 more
GUncertain significance
CYFIP2
(N853S +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
GUncertain significance
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