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
CHRNB1
(Y357*)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 2A
GLikely pathogenic
CHRNB1
(S397G)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 2A
GUncertain significance