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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG7
Single nucleotide variant
(splice acceptor variant)
COG7 congenital disorder of glycosylation
GPathogenic
COG7, LOC130058658
(M1T)
Single nucleotide variant
(missense variant +1 more)
COG7 congenital disorder of glycosylation
GLikely pathogenic