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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GFPT1
(R111H)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 12
GPathogenic/Likely pathogenic
GFPT1
(G45D)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 12
GUncertain significance