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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUS1
(L4fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
NUS1
(V8A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUS1
(T23I)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
(W25C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NUS1
(I36M)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
(G74R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUS1
(G74E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NUS1
(S113N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUS1
(M149V)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
(Q157L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUS1
(L210S)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
(D222E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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