| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | SPTA1-related disorder +1 more | |
| | HBB, LOC106099062 +1 more (E27K) | Single nucleotide variant (missense variant) | Malaria, susceptibility to +16 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene