U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTNAP2
(A4fs)
Duplication
(frameshift variant +1 more)
Cortical dysplasia-focal epilepsy syndrome
GLikely pathogenic
CNTNAP2
(W166*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic