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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG11, UTP14C
(L381S)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GPathogenic
ALG11, UTP14C
(E398K)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GPathogenic
ALG11, UTP14C
(M408R)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
ALG11, UTP14C
(Y738*)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
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