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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMBS
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
DPAGT1, HMBS
(I393V)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+5 more
GBenign