| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
Click to view in NCBI Gene