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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060041, CHRNE
(R352L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRNE, LOC130060041
Single nucleotide variant
(splice acceptor variant)
Congenital myasthenic syndrome 4A
+1 more
GPathogenic/Likely pathogenic
C17orf107, CHRNE
(P265L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+3 more
GPathogenic/Likely pathogenic
C17orf107, CHRNE
(Q169L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4C
+5 more
GConflicting classifications of pathogenicity
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