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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNB1, LOC130060147
Deletion
(inframe_deletion)
Congenital myasthenic syndrome 2A
+1 more
GUncertain significance
CHRNB1, LOC130060147
(A15V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance