| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Transketolase deficiency | |
| | LOC126806684, TKT (E522K +1 more) | Single nucleotide variant (missense variant +1 more) | Transketolase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Transketolase deficiency | |
| | | Single nucleotide variant (missense variant) | Transketolase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene