Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice acceptor variant) | Hereditary spherocytosis | |
| | | Microsatellite (frameshift variant) | Hereditary spherocytosis | |
| | | Single nucleotide variant (nonsense) | Hereditary spherocytosis | |
| | | Single nucleotide variant (missense variant) | Spherocytosis +2 more | |
| | | Single nucleotide variant (intron variant) | Elliptocytosis 2 +5 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spherocytosis type 3 +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary spherocytosis | |
| | | Duplication (frameshift variant) | Hereditary spherocytosis | |
| | | Single nucleotide variant (missense variant) | Hereditary spherocytosis | |
Click to view in NCBI Gene