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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
COG5
(L320P +1 more)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
(L131F +1 more)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
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