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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNE, LOC130060040
Microsatellite
(intron variant)
not specified
+2 more
GBenign
CHRNE, LOC130060040
(F395V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHRNE, LOC130060040
(R390W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRNE, LOC130060040
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4A
+1 more
GConflicting classifications of pathogenicity
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