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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG7
(V762M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
COG7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COG7
Single nucleotide variant
(synonymous variant)
COG7-related condition
+2 more
GBenign
COG7
(M690V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
COG7
(T605M)
Single nucleotide variant
(missense variant)
COG7-related condition
+2 more
GBenign
COG7
(T463M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG7
(I284F)
Single nucleotide variant
(missense variant)
COG7-related condition
+2 more
GConflicting classifications of pathogenicity
COG7
(A194V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG7
(L108fs)
Duplication
(frameshift variant)
COG7 congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
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