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Links from MedGen

Items: 1 to 100 of 2400

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
(L147fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
(Q327* +3 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
(P543H +4 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease type III
GUncertain significance
AGL
(P1116T +6 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease type III
GUncertain significance
AGL
(N69fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
(M1064fs +1 more)
Indel
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Deletion
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
(Q707P +4 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease type III
GUncertain significance
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Deletion
(intron variant)
Glycogen storage disease type III
GBenign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
(F455fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
(D707fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
(C482G +4 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease type III
GUncertain significance
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
(T420fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
(E353fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
(T112fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Duplication
(intron variant)
Glycogen storage disease type III
GBenign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Deletion
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Deletion
(splice donor variant)
Glycogen storage disease type III
GLikely pathogenic
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
(Q1334* +6 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
GPathogenic
AGL
Deletion
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Deletion
(splice donor variant)
Glycogen storage disease type III
GLikely pathogenic
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
(Q615* +4 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Deletion
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
(E818fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease type III
GPathogenic
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
(W1031* +6 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
GPathogenic
AGL
Duplication
(intron variant)
Glycogen storage disease type III
GBenign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
GLikely benign
AGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease type III
GLikely benign
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