| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more | |
Click to view in NCBI Gene