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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG8
(T504R)
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic