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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGRN
(A1667T +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GLikely pathogenic
AGRN
(V1921del +2 more)
Indel
(inframe_deletion)
Congenital myasthenic syndrome 8
GLikely pathogenic