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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PGK1
(L154P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PGK1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PGK1
(T369P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PGK1
(G372S)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
+1 more
GConflicting classifications of pathogenicity
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