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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG8, LOC130059304
(P581T +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
+2 more
GBenign/Likely benign
COG8
(P530L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
COG8
(E296K)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
+1 more
GUncertain significance
COG8
(A2V)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
+1 more
GUncertain significance
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