U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNE
(N452fs)
Duplication
(frameshift variant)
Congenital myasthenic syndrome 4A
+3 more
GPathogenic
C17orf107, CHRNE
+1 more
Deletion
(splice acceptor variant)
Congenital myasthenic syndrome 4B
+4 more
GPathogenic
C17orf107, CHRNE
(E44fs)
Duplication
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+6 more
GPathogenic
C17orf107, CHRNE
+2 more
Indel
(genic upstream transcript variant)
Congenital myasthenic syndrome
GPathogenic
Format
Sort by
Choose Destination