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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG1, LOC130061576
(R12W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COG1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COG1
(S134L)
Single nucleotide variant
(missense variant)
COG1-related condition
+3 more
GConflicting classifications of pathogenicity
COG1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COG1
(E210Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG1
(E219Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
COG1
(N243S)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
+1 more
GUncertain significance
COG1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COG1
(Q301H)
Single nucleotide variant
(missense variant)
COG1-related condition
+3 more
GConflicting classifications of pathogenicity
COG1, LOC126862634
(T350M)
Single nucleotide variant
(missense variant)
COG1-related condition
+3 more
GBenign/Likely benign
COG1, LOC126862634
(N392S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
COG1
(E453Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
COG1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COG1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COG1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
COG1
(G653E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COG1
(L675del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+2 more
GUncertain significance
COG1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
COG1, VCF1
(A940fs)
Duplication
(3 prime UTR variant +1 more)
COG1 congenital disorder of glycosylation
+1 more
GUncertain significance
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