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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL
(I1226T +6 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease type III
+1 more
GUncertain significance
AGL
(I705V +4 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IIIa
GUncertain significance
AGL
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IIIa
GPathogenic
AGL
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IIIa
GPathogenic
AGL
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IIIa
GPathogenic
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease IIIa
GUncertain significance
AGL
(R469* +4 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
+2 more
GPathogenic/Likely pathogenic
AGL
(E1056fs +1 more)
Microsatellite
(frameshift variant)
Glycogen storage disease type III
+2 more
GPathogenic
AGL
(Q86* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease IIIa
+2 more
GPathogenic/Likely pathogenic
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease IIIa
+1 more
GPathogenic/Likely pathogenic
AGL
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IIIa
+1 more
GPathogenic/Likely pathogenic
AGL
(W1327* +6 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AGL
(R408* +3 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease IIIa
+2 more
GPathogenic
AGL
(V1306fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
AGL
(G1448R +6 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IIIa
GPathogenic
AGL
Variation
Glycogen storage disease IIIa
GPathogenic
AGL
Single nucleotide variant
(splice donor variant)
Glycogen storage disease type III
GPathogenic/Likely pathogenic
AGL
Single nucleotide variant
(intron variant)
Glycogen storage disease type III
+2 more
GPathogenic/Likely pathogenic
AGL
(S1470fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
AGL
(Y1510* +1 more)
Duplication
(nonsense +1 more)
Glycogen storage disease type III
+2 more
GPathogenic/Likely pathogenic
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