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Links from MedGen

Items: 1 to 100 of 712

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Deletion
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(L334fs)
Indel
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(S366F)
Single nucleotide variant
(missense variant)
ALG6-congenital disorder of glycosylation 1C
GUncertain significance
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(V239fs)
Deletion
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(L148fs)
Duplication
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Deletion
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(W4*)
Single nucleotide variant
(nonsense)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(K410fs)
Deletion
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(V358fs)
Deletion
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Deletion
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Duplication
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(S322A)
Single nucleotide variant
(missense variant)
ALG6-congenital disorder of glycosylation 1C
GUncertain significance
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Deletion
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(G269*)
Duplication
(nonsense)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Microsatellite
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(splice acceptor variant)
ALG6-congenital disorder of glycosylation 1C
GLikely pathogenic
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(Y166*)
Single nucleotide variant
(nonsense)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Deletion
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GBenign
ALG6
(W94*)
Single nucleotide variant
(nonsense)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Deletion
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(I118fs)
Deletion
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(T76fs)
Duplication
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(R437fs)
Deletion
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(splice donor variant)
ALG6-congenital disorder of glycosylation 1C
GLikely pathogenic
ALG6
(W246*)
Single nucleotide variant
(nonsense)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
(F325fs)
Deletion
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
ALG6
(F49fs)
Deletion
(frameshift variant)
ALG6-congenital disorder of glycosylation 1C
GPathogenic
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