| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Galactosemia +2 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene