| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | DGUOK, LOC129934096 (M18V) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | DGUOK, LOC129934096 (E44K) | Single nucleotide variant (missense variant +2 more) | not provided | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene