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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPAGT1, LOC126861360
(A39E)
Indel
(missense variant)
Congenital disorder of glycosylation
GLikely pathogenic
DPAGT1, LOC126861360
(M9fs)
Duplication
(frameshift variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GPathogenic
DPAGT1, LOC126861360
(M1T)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation
GLikely pathogenic
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