| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | |
| | | Single nucleotide variant (missense variant) | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene