| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PMM2-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |