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
STXBP1
(R464fs +3 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic
STXBP1
(S476* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic