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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG5
(V733M +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
COG5
(M460V +5 more)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
+1 more
GUncertain significance
COG5
(L407F +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
COG5
(Y447C +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COG5
(M366V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COG5
(P377L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COG5
(F330L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
COG5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COG5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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