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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPN2
(D42G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPN2
(A63V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
RPN2
(C72Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPN2
(D85G)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
+1 more
GUncertain significance
RPN2
(V97I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPN2
(E150D +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
+1 more
GUncertain significance
RPN2
(L173R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(T208I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(Y184H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(I234T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(V112M +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RPN2
(T250S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(Q253L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(A271T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(R159G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(Y326C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(V206I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(R395W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(A400T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(I375F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(A427S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(I313L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(Y495C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(I327V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(I510V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(L515W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(R379K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPN2
(N386S +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
+1 more
GUncertain significance
RPN2
(P552L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPN2
(A526P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPN2
(A526T +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
+1 more
GUncertain significance
RPN2
(I421M +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
+1 more
GUncertain significance
RPN2
(H551Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(I576M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(A584G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPN2
(R462Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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