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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COLQ
(G406A +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(G188fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Single nucleotide variant
(intron variant +1 more)
Congenital myasthenic syndrome 5
GPathogenic/Likely pathogenic
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