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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG8, PDF
(Q101*)
Single nucleotide variant
(nonsense +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
(T603A +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(P403Q)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
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