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Links from MedGen

Items: 1 to 100 of 426

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG7
Deletion
COG7 congenital disorder of glycosylation
GPathogenic
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7, LOC130058658
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7, LOC130058658
(A37V)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(F436C)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(R508W)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7, LOC130058658
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(K205T)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(G301S)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(L282P)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(A763S)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Deletion
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7-related disorder
+1 more
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Deletion
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(L283R)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(W603*)
Single nucleotide variant
(nonsense)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7, LOC130058658
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(Y500fs)
Duplication
(frameshift variant)
COG7 congenital disorder of glycosylation
GPathogenic
COG7
(L595*)
Single nucleotide variant
(nonsense)
COG7 congenital disorder of glycosylation
GPathogenic
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Duplication
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7, LOC130058658
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7, LOC130058658
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7, LOC130058658
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(I549V)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(R444*)
Single nucleotide variant
(nonsense)
COG7 congenital disorder of glycosylation
Gnot provided
COG7
(E486K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG7, LOC130058658
(V13L)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7, EARS2
+6 more
Deletion
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(G483E)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7, LOC130058658
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(V737M)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(A570V)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(R313K)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(D202G)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(R748K)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(Y355F)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(K521N)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
+2 more
GUncertain significance
COG7
(M765V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COG7
(H337Y)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(I265M)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(G420A)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(D146E)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(A222T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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