| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | PGM1-congenital disorder of glycosylation +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PGM1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PGM1-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | PGM1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PGM1-congenital disorder of glycosylation | |
Click to view in NCBI Gene