| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | DTYMK, LOC129936029 (H35Y) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | D-2-hydroxyglutaric aciduria 1 | |
| | | Duplication | D-2-hydroxyglutaric aciduria 1 +3 more | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
Click to view in NCBI Gene