| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Microsatellite (inframe_deletion) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Indel (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Phosphoglycerate kinase electrophoretic variant PGK II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
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