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Links from MedGen

Items: 1 to 100 of 339

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG1, VCF1
Single nucleotide variant
(3 prime UTR variant +1 more)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC126862634
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1-related condition
+1 more
GLikely benign
COG1, VCF1
Single nucleotide variant
(3 prime UTR variant +1 more)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC126862634
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC130061576
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, VCF1
Single nucleotide variant
(3 prime UTR variant +1 more)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC126862634
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
(C200S)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC126862634
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, VCF1
(S942F)
Single nucleotide variant
(3 prime UTR variant +1 more)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1, LOC126862634
(N364fs)
Deletion
(frameshift variant)
COG1 congenital disorder of glycosylation
GPathogenic
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC126862634
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC130061577
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC125316790
(S742Y)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC130061576
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
(A73D)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(R571W)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(R187W)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(R187Q)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(S605G)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(T430A)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC130061577
(A103V)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(H609P)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
+1 more
GUncertain significance
COG1
(N894S)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1, LOC126862634
(R336*)
Single nucleotide variant
(nonsense)
COG1 congenital disorder of glycosylation
GPathogenic
COG1
(A887T)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1, LOC130061576
(R55W)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(G305R)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(R172W)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
+1 more
GUncertain significance
COG1, LOC126862634
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
(V670I)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(R805G)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
+1 more
GUncertain significance
COG1
(E278del)
Deletion
(inframe_deletion)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
(A209V)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
+1 more
GUncertain significance
COG1
(D486N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COG1
(D530E)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(C150S)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC130061576
(I60M)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(A798T)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
(R831Q)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(S873F)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1, LOC130061577
(R91L)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
(L217V)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(P284S)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(L916P)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(splice acceptor variant)
COG1 congenital disorder of glycosylation
GLikely pathogenic
COG1
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(S829N)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(A739V)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
COG1, LOC126862634
(A380V)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
+1 more
GUncertain significance
COG1
Microsatellite
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
+1 more
GLikely benign
COG1
(R805Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COG1
(M135L)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1, LOC126862634
(T395P)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(D482E)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(E210K)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(K506E)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
(R234K)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(S171P)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
(T842I)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
Single nucleotide variant
(synonymous variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1
(Y86fs)
Duplication
(frameshift variant)
COG1 congenital disorder of glycosylation
GPathogenic
COG1
(Q896*)
Single nucleotide variant
(nonsense)
COG1 congenital disorder of glycosylation
GPathogenic
COG1, LOC130061577
Single nucleotide variant
(intron variant)
COG1 congenital disorder of glycosylation
GLikely benign
COG1, LOC126862634
(C403R)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
+1 more
GUncertain significance
COG1
(E839Q)
Single nucleotide variant
(missense variant)
COG1 congenital disorder of glycosylation
GUncertain significance
COG1, LOC130061576
(Q50*)
Single nucleotide variant
(nonsense)
COG1 congenital disorder of glycosylation
GPathogenic
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