| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ANK1, LOC126860368 (Q1489* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hereditary spherocytosis type 1 | |
| | | Deletion (frameshift variant) | Hereditary spherocytosis type 1 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spherocytosis type 1 | |
| | | Deletion (frameshift variant) | Hereditary spherocytosis type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary spherocytosis type 1 | |
| | | Deletion (frameshift variant) | Hereditary spherocytosis type 1 | |
| | | Deletion (frameshift variant) | Hereditary spherocytosis type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Hereditary spherocytosis type 1 | |
| | | Deletion (frameshift variant) | Hereditary spherocytosis type 1 | |
| | | Deletion (frameshift variant) | Hereditary spherocytosis type 1 | |
Click to view in NCBI Gene