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Items: 1 to 100 of 530

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
MROH8, RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
(R530W +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
(V56M)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(T73I)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(G62S)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(Y559H +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(D247G +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
MROH8, RPN2
(R48G)
Single nucleotide variant
(missense variant +2 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Deletion
(intron variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(G62A)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(R234L +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(D85G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RPN2
(E150D +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(V9I)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
(E193K +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
MROH8, RPN2
Insertion
(frameshift variant +2 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(I17M)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
MROH8, RPN2
(G36fs)
Insertion
(frameshift variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(I421M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(R76T)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(R504S +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(N386S +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
+1 more
GUncertain significance
RPN2
(A239T +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(L29F)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(V130I +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(S480L +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(N137S +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
MROH8, RPN2
(L38fs)
Insertion
(frameshift variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
(T117fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(T149I +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
MROH8, RPN2
(A33fs)
Insertion
(frameshift variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
(R280Q +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(A526T +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(A101V +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(K183R +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
MROH8, RPN2
(Q44K)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
(V508M +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(V65L)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
SLC35A2
(E103V +4 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GLikely pathogenic
ALG1
(S71F +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAN2B2
(S147del)
Deletion
(inframe_deletion)
Congenital disorder of glycosylation
GUncertain significance
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GBenign
RPN2
(E375K +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
(V226M +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
ALG1
(M271I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RPN2
(S312C +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(V305L +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(E369K +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(R635W +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(A22T)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(H282R +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
RPN2
(Q409R +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
SLC37A4
(R350* +2 more)
Single nucleotide variant
(nonsense)
Congenital disorder of glycosylation, type IIw
+2 more
GPathogenic/Likely pathogenic
ALG13
(E69del)
Microsatellite
(5 prime UTR variant +3 more)
Congenital disorder of glycosylation
GLikely pathogenic
ALG13
(G894V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
+1 more
GBenign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GBenign
RPN2
(D124N +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
+1 more
GBenign
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GBenign
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GBenign
RPN2
(V301L +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GBenign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation
GLikely benign
MROH8, RPN2
(I40fs)
Insertion
(frameshift variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely benign
RPN2
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
GLikely benign
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