| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more | |
Click to view in NCBI Gene