| | | Single nucleotide variant (nonsense) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (splice acceptor variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (nonsense) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Deletion (inframe_deletion) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (nonsense) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (intron variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (nonsense) | Pyruvate kinase deficiency of red cells +1 more | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (nonsense) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Deletion (frameshift variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Pyruvate kinase deficiency of red cells +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | PKLR-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | PKLR-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | PKLR-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +2 more | |
| | | Single nucleotide variant (intron variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (intron variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (synonymous variant) | PKLR-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (5 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Pyruvate kinase deficiency of red cells | |
| | | Deletion (inframe_deletion) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Pyruvate kinase deficiency of red cells +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (synonymous variant) | PKLR-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate kinase deficiency of red cells +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Deletion (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pyruvate kinase deficiency of red cells | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pyruvate kinase deficiency of red cells | |