U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 135

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(P65T)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(D45H)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(G539V)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(E466fs)
Deletion
(frameshift variant)
not provided
+1 more
GLikely pathogenic
COG8
(L327R)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(R256W)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(G539E)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059306
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(S169R)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(E200Q)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(G55A)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(intron variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8, LOC130059304
(R613Q +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(I158M)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059306
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(E64D)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
+1 more
GUncertain significance
COG8
(I548T +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(E296del)
Deletion
(inframe_deletion)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(G340S)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(intron variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(N447S)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(R233Q)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(D333N)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
+1 more
GUncertain significance
COG8
(H307Y)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(C225G)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(I376M)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(R234C)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(N127S)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(N147S)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
(P572H +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(R139H)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(G305D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COG8
(Q221H)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(R256G)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(L517V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COG8
(R233W)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
(G598E +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8, LOC130059304
Single nucleotide variant
(intron variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(L517fs)
Deletion
(frameshift variant +1 more)
COG8-congenital disorder of glycosylation
GPathogenic
COG8
(I7V)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
COG8
(R450C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COG8
(F247L)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(G490W)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
COG8, LOC130059304
(E632D +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
(T603A +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
PDF, COG8
(Q101*)
Single nucleotide variant
(nonsense +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(P403Q)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(G305C)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(P420S)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(R140Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG8, LOC130059304
(E607fs +2 more)
Microsatellite
(frameshift variant +1 more)
COG8-congenital disorder of glycosylation
+2 more
GPathogenic/Likely pathogenic
COG8
(G541S)
Single nucleotide variant
(missense variant +2 more)
COG8-congenital disorder of glycosylation
GPathogenic
COG8
Single nucleotide variant
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(A5V)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
+1 more
GUncertain significance
COG8, LOC130059305
(L103Q)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, PDF
(W207*)
Single nucleotide variant
(nonsense +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, PDF
Single nucleotide variant
(3 prime UTR variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(R244K)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
+1 more
GUncertain significance
COG8, PDF
Single nucleotide variant
(3 prime UTR variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(E296K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG8
(P301S)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(G365R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG8
Single nucleotide variant
(intron variant)
COG8-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8, LOC130059305
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8, LOC130059305
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(V193A)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GBenign/Likely benign
COG8
(M235T)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GBenign/Likely benign
COG8
(V129A)
Single nucleotide variant
(missense variant)
COG8-related disorder
+2 more
GConflicting classifications of pathogenicity
COG8, LOC130059304
(T575I)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GBenign/Likely benign
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
COG8
Single nucleotide variant
(splice donor variant)
COG8-congenital disorder of glycosylation
GLikely pathogenic
LOC130059304, COG8
(P612fs)
Duplication
(frameshift variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(R51W)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(P420L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination