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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG11, LOC130009841
(M1V)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GLikely pathogenic
ALG11
(R136C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALG11, UTP14C
(V331F)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
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