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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL
(Q6fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
+1 more
GConflicting classifications of pathogenicity
AGL
(Q651fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease IIIb
GPathogenic
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
+2 more
GPathogenic/Likely pathogenic
AGL
(W680* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
AGL
(Q6*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
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