| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant +1 more) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Deletion (frameshift variant) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Single nucleotide variant (missense variant) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Single nucleotide variant (nonsense) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Single nucleotide variant (nonsense) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Duplication (frameshift variant) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| | | Single nucleotide variant (missense variant) | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency +1 more | GPathogenic/Likely pathogenic |
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