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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PREPL
(W541* +3 more)
Single nucleotide variant
(nonsense)
Myasthenic syndrome, congenital, 22
GLikely pathogenic
PREPL
(E47del +1 more)
Microsatellite
(inframe_deletion)
Myasthenic syndrome, congenital, 22
GUncertain significance