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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYT2
Deletion
(inframe_deletion)
Muscle weakness
+1 more
GLikely pathogenic
SYT2
(A120T)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 7
+1 more
GUncertain significance