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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC100996842, MPDU1
(C22W)
Single nucleotide variant
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(I205V)
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance