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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNB1
Insertion
(inframe_insertion)
Congenital myasthenic syndrome 2A
GUncertain significance
CHRNB1
(G230fs)
Insertion
(frameshift variant)
Congenital myasthenic syndrome 2A
GLikely pathogenic