| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (intron variant) | Elliptocytosis 2 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Elliptocytosis 2 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | Elliptocytosis 2 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene