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Links from MedGen

Items: 1 to 100 of 738

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG5
(D180fs +2 more)
Deletion
(frameshift variant)
COG5-congenital disorder of glycosylation
GPathogenic
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5, LOC129389837
Deletion
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(D197V)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Duplication
(intron variant)
COG5-congenital disorder of glycosylation
GBenign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Deletion
(intron variant)
COG5-congenital disorder of glycosylation
GBenign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(Q233*)
Single nucleotide variant
(nonsense +1 more)
COG5-congenital disorder of glycosylation
GPathogenic
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Deletion
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(I186V)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Deletion
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(R16*)
Single nucleotide variant
(nonsense)
COG5-congenital disorder of glycosylation
GPathogenic
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(S284C)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant +1 more)
COG5-congenital disorder of glycosylation
GLikely pathogenic
COG5, LOC129389837
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(Q160* +2 more)
Single nucleotide variant
(nonsense)
COG5-congenital disorder of glycosylation
GPathogenic
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Deletion
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(L582V +3 more)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(splice donor variant +1 more)
COG5-congenital disorder of glycosylation
GLikely pathogenic
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant +1 more)
COG5-congenital disorder of glycosylation
GLikely pathogenic
COG5
Single nucleotide variant
(3 prime UTR variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(3 prime UTR variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5, LOC129389837
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(splice acceptor variant +1 more)
COG5-congenital disorder of glycosylation
GLikely pathogenic
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Duplication
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Deletion
COG5-congenital disorder of glycosylation
GPathogenic
COG5, GPR22
Deletion
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Deletion
COG5-congenital disorder of glycosylation
GPathogenic
COG5, DUS4L
Deletion
COG5-congenital disorder of glycosylation
GPathogenic
COG5
Deletion
COG5-congenital disorder of glycosylation
GPathogenic
COG5
(E530D +6 more)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(Y161C +2 more)
Single nucleotide variant
(missense variant)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
(I107T)
Single nucleotide variant
(missense variant +1 more)
COG5-congenital disorder of glycosylation
+1 more
GUncertain significance
COG5, LOC129389837
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(synonymous variant +1 more)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
(T226A)
Single nucleotide variant
(intron variant +1 more)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Single nucleotide variant
(synonymous variant)
COG5-congenital disorder of glycosylation
GLikely benign
COG5
Single nucleotide variant
(5 prime UTR variant)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GUncertain significance
COG5
Deletion
(splice donor variant)
COG5-congenital disorder of glycosylation
GLikely pathogenic
COG5
Single nucleotide variant
(intron variant)
COG5-congenital disorder of glycosylation
GLikely benign
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