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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COLQ
(R410W +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
+2 more
GPathogenic
COLQ
(L27fs +1 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GPathogenic