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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAN2C1
(R278Q)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation 2
GUncertain significance
CSPG4, IMP3
+6 more
Copy number loss
not provided
GPathogenic