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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGRN, LOC126805576
(G76S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GLikely pathogenic
AGRN, LOC126805576
(N105I)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
Gnot provided