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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35A2
(Y267C +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely pathogenic
AMER1, AMMECR1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic