U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STXBP1
(K296fs +3 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(R551C +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
STXBP1
(R551S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic/Likely pathogenic
Format
Sort by
Choose Destination