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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PC1
(R83C)
Single nucleotide variant
(missense variant)
not specified
+5 more
GPathogenic
G6PC1
(G184V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
(G270V)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
+1 more
GPathogenic/Likely pathogenic
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