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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPN2
(P66S)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
+1 more
GUncertain significance
RPN2
(Y89H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
RPN2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RPN2
(V341A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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