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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COLQ
(C371fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely pathogenic