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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL
Deletion
(nonsense +1 more)
Glycogen storage disease type III
GPathogenic/Likely pathogenic
AGL
(R494H +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
AGL
(R1131* +6 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
GLikely pathogenic
AGL
(R1487* +6 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
+1 more
GPathogenic/Likely pathogenic
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