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
GABRB3
(L175V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 43
GLikely pathogenic
GABRB3
(R26* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic