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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYFIP2
(T3M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYFIP2
(A472V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
GUncertain significance
CYFIP2
(E663K +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
GUncertain significance
CYFIP2
(R759H +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
GUncertain significance
CYFIP2
(D795N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CYFIP2
(I899V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 65
GUncertain significance
CYFIP2, NIPAL4-DT
(R1019W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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